Prof. Dr. SERDAR CEYLANER

1. From Primary Amenorrhea to the Desert Hedgehog Gene: Novel Homozygous Variant in 46,XY Gonadal Dysgenesis

Deligözoğlu D., CEYLANER S., GÜRBÜZ F.

Journal of Pediatric and Adolescent Gynecology , 2026 (SCI-Expanded, Scopus)

2. Children with Genetically Confirmed Hereditary Spastic Paraplegia: A Single-Center Experience

Besen S., Özkale Y., Özkale M., Bozdoğan S. T., Alkan Ö., CEYLANER S., et al.

Children , cilt.12, sa.10, 2025 (SCI-Expanded, Scopus)

3. Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor

Koç Yekedüz M., YILMAZ R., Abali T., Kibrit S. N., Karacan A. V., Unutmaz E. Y., et al.

Neurological Sciences , cilt.46, sa.9, ss.4361-4373, 2025 (SCI-Expanded, Scopus)

4. Coexistence of a Leaky SCID Phenotype With Hyperphenylalaninemia in an Adult Case

Musabak U., Erdogan T., Akcay M. S., CEYLANER S.

Case Reports in Immunology , cilt.2025, sa.1, 2025 (ESCI, Scopus)

5. A case with a novel GATA1 variant mimicking immune thrombocytopenia attacks

Aktekin E. H., CEYLANER S., Beşen Ş., Erbay A., Yazıcı N.

Platelets , cilt.36, sa.1, 2025 (SCI-Expanded, Scopus)

6. A novel case with CHST14-related musculocontractural Ehlers-Danlos syndrome

Ardicli D., Degerliyurt A., Genc B. F., OFLAZ O., CEYLANER S.

Neurology Asia , cilt.30, sa.3, ss.943-946, 2025 (SCI-Expanded, Scopus)

7. Allojeneik Hematopoetik Kök Hücre Nakli Sonrası Aseptik Nekroz Gelişen Olgularda Vitamin D Reseptör Gen Polimorfizmi

SOYDAN E., ŞAHİN U., CEYLANER S., GÖKMEN A., DOĞAN H., OKCU M. K., et al.

Türkiye'de Lösemi Lenfoma Miyelom Araştırmaları , cilt.7, sa.2, ss.51-56, 2023 (TRDizin)

8. Phenotypic and molecular characterization of five patients with PIK3CA-related overgrowth spectrum (PROS)

Gökpınar İli E., Taşdelen E., Durmaz C. D., ALTINER Ş., TUNCALI T., Martinez-Glez V., et al.

American Journal of Medical Genetics, Part A , cilt.188, sa.6, ss.1792-1800, 2022 (SCI-Expanded, Scopus)

9. A rare cause of hydrops fetalis in two Gaucher disease type 2 patients with a novel mutation

Kilavuz S., Basaranoglu M., Epcacan S., Bako D., Ozer A., Donmez Y. N., et al.

METABOLIC BRAIN DISEASE , cilt.37, sa.4, ss.1283-1287, 2022 (SCI-Expanded, Scopus)

10. Niemann-Pick type C disease with a novel intronic mutation: Three Turkish cases from the same family

Klllç Ylldlrlm G., YARAR C., Şeker Yllmaz B., CEYLANER S.

Journal of Pediatric Endocrinology and Metabolism , cilt.35, ss.535-541, 2022 (SCI-Expanded, Scopus)

11. Successful therapeutic plasma exchange in a case with extremely severe hypertriglyceridemia secondary to diabetic ketoacidosis concomitant with type IX glycogen storage disease

KİŞİOĞLU M., YEŞİLBAŞ O., GÜVEN B., CEYLANER S., KARAGÜZEL G.

Transfusion and Apheresis Science , cilt.61, sa.1, 2022 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

12. First Case of MELAS Syndrome Presenting with Local Brain Edema Requiring Decompressive Craniectomy

YEŞİLBAŞ O., Sengenc E., Olbak M. E., Bako D., Nizam O. G., SEYİTHANOĞLU M. H., et al.

Turkish Neurosurgery , cilt.32, sa.1, ss.155-159, 2022 (SCI-Expanded, Scopus, TRDizin)

13. Glucose-6-phosphate dehydrogenase gene Ala365Thr mutation in an Iraqi family with confusing clinical differences

Akisin Y. A., Arslan Z., CEYLANER S., Akar N.

Turkish Journal of Biochemistry , cilt.46, sa.6, ss.729-731, 2021 (SCI-Expanded, Scopus, TRDizin)

14. Rare slow channel congenital myasthenic syndromes without repetitive compound muscle action potential and dramatic response to low dose fluoxetine

Durmus H., Sticht H., CEYLANER S., Hashemolhosseini S., Deymeer F.

Acta Neurologica Belgica , cilt.121, sa.6, ss.1755-1760, 2021 (SCI-Expanded, Scopus)

15. Glycogen storage disease type XII; An ultra rare cause of hemolytic anemia and rhabdomyolysis: One new case report

Kara E., KOR D., Bulut F. D., Hergüner Ö., CEYLANER S., Köşeci B., et al.

Journal of Pediatric Endocrinology and Metabolism , cilt.34, sa.10, ss.1335-1339, 2021 (SCI-Expanded, Scopus)

16. Retrospective evaluation of patients with X-linked adrenoleukodystrophy with a wide range of clinical presentations: A single center experience

Olgac A., Kasapkara Ç. S., Derinkuyu B., Yüksel D., Çetinkaya S., Aksoy A., et al.

Journal of Pediatric Endocrinology and Metabolism , cilt.34, sa.9, ss.1169-1179, 2021 (SCI-Expanded, Scopus)

17. Episodic psychosis, ataxia, motor neuropathy with pyramidal signs (PAMP syndrome) caused by a novel mutation in ADPRHL2 (AHR3)

Durmus H., Mertoğlu E., Sticht H., CEYLANER S., Kulaksızoğlu I. B., Hashemolhosseini S., et al.

Neurological Sciences , cilt.42, sa.9, ss.3871-3878, 2021 (SCI-Expanded, Scopus)

18. Genotypic and phenotypic features in Turkish patients with classic nonketotic hyperglycinemia

Bayrak H., YILDIZ Y., Olgaç A., Kasapkara Ç. S., Küçükcongar A., Zenciroğlu A., et al.

Metabolic Brain Disease , cilt.36, sa.6, ss.1213-1222, 2021 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

19. Molecular and clinical findings of Turkish patients with hereditary fructose intolerance

Gunduz M., Ünal-Uzun Ö., Koç N., CEYLANER S., Özaydln E., Kasapkara Ç. S.

Journal of Pediatric Endocrinology and Metabolism , cilt.34, sa.8, ss.1017-1022, 2021 (SCI-Expanded, Scopus)

20. Isolated congenital diaphragm hernia associated with homozygous SLIT3 gene variant in dizygous twins

Kaya T. B., AYDEMİR Ö., CEYLANER S., Ceylaner G., TEKİN A. N.

European Journal of Medical Genetics , cilt.64, sa.7, 2021 (SCI-Expanded, Scopus)

21. Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy

Wong H. H., Seet S. H., Maier M., Gurel A., Traspas R. M., Lee C., et al.

American Journal of Human Genetics , cilt.108, sa.7, ss.1301-1317, 2021 (SCI-Expanded, Scopus)

22. A Novel mRNA Modification Mutation in a Patient With Ligneous Conjunctivitis Coexisting With Heterozygous Familial Mediterranean Fever Mutation

Koseoglu N. D., CEYLANER S., YILDIRIM N.

Cornea , cilt.40, sa.6, ss.764-768, 2021 (SCI-Expanded, Scopus)

23. Antioxidant Therapy in a Patient with Hyperprolinemia Type 1 Presenting with Mild Neuromotor Retardation and Speech Disturbance

Ersoy M., Yılmaz S., CEYLANER S.

Indian Journal of Pediatrics , cilt.88, sa.6, ss.601, 2021 (SCI-Expanded, Scopus)

24. Cytochrome P450 oxidoreductase deficiency caused by a novel mutation in the POR gene in two siblings: case report and literature review

Unal E., Demiral M., Yıldırım R., Taş F. F., CEYLANER S., Özbek M. N.

Hormones , cilt.20, sa.2, ss.293-298, 2021 (SCI-Expanded, Scopus)

25. More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome

Dhooge T., Van Damme T., Syx D., Mosquera L. M., Nampoothiri S., Radhakrishnan A., et al.

Human Mutation , cilt.42, sa.6, ss.711-730, 2021 (SCI-Expanded, Scopus)

26. LRBA deficiency: a rare cause of type 1 diabetes, colitis, and severe immunodeficiency

Kardelen A. D., Kara M., Güller D., KARAKILIÇ ÖZTURAN E., Abalı Z. Y., CEYLANER S., et al.

Hormones , cilt.20, sa.2, ss.389-394, 2021 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

27. Congenital myasthenic syndrome in Turkey: clinical and genetic features in the long-term follow-up of patients

GÜL MERT G., ÖZCAN N., Hergüner Ö., ALTUNBAŞAK Ş., İNCECİK F., BİŞGİN A., et al.

Acta Neurologica Belgica , cilt.121, sa.2, ss.529-534, 2021 (SCI-Expanded, Scopus)

28. Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome Resembling Juvenile Idiopathic Arthritis: A Single-Center Experience from Southern Turkey

Ekinci R. M. K., Balci S., Dogan H., CEYLANER S., Varan C., Erdem S., et al.

Molecular Syndromology , cilt.12, sa.2, ss.112-117, 2021 (SCI-Expanded, Scopus)

29. A newborn case of adenylosuccinate lyase deficiency with a novel heterozygous mutation diagnosed by whole exome sequencing

Cakmak Celik F., Ozlu M. M., CEYLANER S.

Clinical Neurology and Neurosurgery , cilt.202, 2021 (SCI-Expanded, Scopus)

30. Clinical and genetic characteristics of patients with corticosterone methyloxidase deficiency type 2: Novel mutations in cyp11b2

Turan H., Çakır A. D., Özer Y., Tarçın G., Özcabi B., CEYLANER S., et al.

JCRPE Journal of Clinical Research in Pediatric Endocrinology , cilt.13, sa.2, ss.232-238, 2021 (SCI-Expanded, Scopus, TRDizin)

31. Is Bioavailable Vitamin D Better Than Total Vitamin D to Evaluate Vitamin D Status in Obese Children?

Karacan Küçükali G., GÜLBAHAR Ö., Özalkak Ş., Dağlı H., CEYLANER S., AYCAN Z., et al.

JCRPE Journal of Clinical Research in Pediatric Endocrinology , cilt.13, sa.4, ss.391-399, 2021 (SCI-Expanded, Scopus, TRDizin)

32. Brown Vialetto Van Laere syndrome: Presenting with left ventricular non-compaction and mimicking mitochondrial disorders

Yılmaz B. Ş., CEYLANER S., Mungan N. Ö.

Turkish Journal of Pediatrics , cilt.63, sa.2, ss.314-318, 2021 (SCI-Expanded, Scopus)

33. Novel mutations in trpm6 gene associated with primary hypomagnesemia with secondary hypocalcemia. Case report

Papez J., Starha J., Slaba K., Hubacek J. A., Pecl J., Aulicka S., et al.

Biomedical Papers , cilt.165, sa.4, ss.454-457, 2021 (SCI-Expanded, Scopus)

34. Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemia

Şeker Yilmaz B., Kor D., Bulut F. D., Kilavuz S., CEYLANER S., Önenli Mungan H. N.

Turkish Journal of Medical Sciences , cilt.51, sa.3, ss.1220-1228, 2021 (SCI-Expanded, Scopus, TRDizin)

35. Genetic management algorithm in high-risk fabry disease cases; especially in female indexes with mutations

Sezer O., CEYLANER S.

Endocrine, Metabolic and Immune Disorders - Drug Targets , cilt.21, sa.2, ss.324-337, 2021 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

36. An Atypical Presentation of Mevalonate Kinase Deficiency in Response to Colchicine Treatment

Koç Yekedüz M., DOĞULU N., Öncül Ü., KÖSE E., CEYLANER S., EMİNOĞLU F. T.

Molecular Syndromology , 2021 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

37. Treatment difficulties in hypomagnesemia secondary to the transient receptor potential melastatin 6 gene: A case report with novel mutation

Yücel H., Sel Ç. G., Kasapkara Ç. S., Küçükali G. K., Savas-Erdeve S., Öztoprak Ü., et al.

JCRPE Journal of Clinical Research in Pediatric Endocrinology , cilt.13, sa.1, ss.114-118, 2021 (SCI-Expanded, Scopus, TRDizin)

38. Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency

Ghosh S., Bal S. K., Edwards E. S., Pillay B., Heredia R. J., Cipe F. E., et al.

Blood , cilt.136, sa.23, ss.2638-2655, 2020 (SCI-Expanded, Scopus)

39. Further observation of Hemoglobin Fontainebleau (a21(B2) Ala-Pro) in a Turkish family

Akar N., CEYLANER S., Akisin Y. A., Tastan G. S.

Egyptian Journal of Medical Human Genetics , cilt.21, sa.1, 2020 (ESCI, Scopus)

40. Coinheritance of novel mutations in NAGLU causing mucopolysaccharidosis type IIIB and in DDHD2 causing spastic paraplegia54 in a Turkish family

Gun Bilgic D., Gerik Celebi H. B., Aydin Gumus A., Bilgic A., YAZICI H., CEYLANER S., et al.

Journal of Clinical Neuroscience , cilt.82, ss.214-218, 2020 (SCI-Expanded, Scopus)

41. Mild lamellar ichthyosis with a truncated homozygous TGM1 mutation in a pediatric patient from Turkey

İmren I. G., Tanacan E., CEYLANER S., Sumer G., Eksioglu M.

Dermatologic Therapy , cilt.33, sa.6, 2020 (SCI-Expanded, Scopus)

42. Aceruloplasminemia Presenting with Asymmetric Chorea Due to a Novel Frameshift Mutation

Aydemir S. T., BULUT O., CEYLANER S., AKBOSTANCI M. C.

Movement Disorders Clinical Practice , cilt.7, sa.S3, 2020 (SCI-Expanded, ESCI, Scopus)

43. A rare cause of delayed puberty in two cases with 46,XX and 46,XY karyotype: 17 α-hydroxylase deficiency due to a novel variant in CYP17A1 gene

Unal E., Yıldırım R., Taş F. F., Tekin S., CEYLANER S., Haspolat Y. K.

Gynecological Endocrinology , cilt.36, sa.8, ss.739-742, 2020 (SCI-Expanded, Scopus)

44. Clinical, immunological features and follow up of 20 patients with dedicator of cytokinesis 8 (DOCK8) deficiency

Haskologlu S., Kostel Bal S., Islamoglu C., Aytekin C., Guner S., Sevinc S., et al.

Pediatric Allergy and Immunology , cilt.31, sa.5, ss.515-527, 2020 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

45. A novel mutation which causes a frameshift in the PHOX2B gene causes Haddad syndrome

Guzoglu N., Aslan M. K., Gunay Y. D., Atasoy P., CEYLANER S., Aliefendioglu D.

Clinical Dysmorphology , cilt.29, ss.152-154, 2020 (SCI-Expanded, Scopus)

46. A Rare Cause of Adrenal Insufficiency - Isolated ACTH Deficiency Due to TBX19 Mutation: Long-Term Follow-Up of Two Cases and Review of the Literature

Kardelen Al A. D., Poyrazoǧlu Ş., Aslanger A., YEŞİL SAYIN G., CEYLANER S., BAŞ F., et al.

Hormone Research in Paediatrics , cilt.92, sa.6, ss.395-403, 2020 (SCI-Expanded, Scopus)

47. Early-onset progressive encephalopathy associated with NAXE gene variants: a case report of a Turkish child

İNCECİK F., CEYLANER S.

Acta Neurologica Belgica , cilt.120, sa.3, ss.733-735, 2020 (SCI-Expanded, Scopus)

48. Two Novel Variants and One Previously Reported Variant in the Insulin Receptor Gene in Two Cases with Severe Insulin Resistance Syndrome

Dagdeviren Cakir A., Saidov S., Turan H., CEYLANER S., Özer Y., KUTLU H. T., et al.

Molecular Syndromology , cilt.11, sa.2, ss.90-96, 2020 (SCI-Expanded, Scopus)

49. Genotypes and estimated prevalence of phosphomannomutase 2 deficiency in Turkey differ significantly from those in Europe

YILDIZ Y., Arslan M., Çelik G., Kasapkara Ç. S., CEYLANER S., DURSUN A., et al.

American Journal of Medical Genetics, Part A , cilt.182, sa.4, ss.705-712, 2020 (SCI-Expanded, Scopus)

50. Hypokalemia and hearing loss in a 3-year-old boy: Questions

Aksoy O. Y., Cayci F. S., CEYLANER S., Tokgoz S. A., Kaplan G., Bayrakci U. S.

Pediatric Nephrology , cilt.35, sa.4, ss.615, 2020 (SCI-Expanded, Scopus)

51. Cardiac Tamponade in Gorham-Stout Syndrome Associated with GATA2 Mutation

Oguz M. M., OĞUZ B., Dogan V., Aydin B., Eyuboglu T. S., Yesil S., et al.

Indian Journal of Pediatrics , cilt.87, sa.3, ss.239-240, 2020 (SCI-Expanded, Scopus)

52. First observation of hemoglobin G-Norfolk in the Turkish population

Ünal H., Atay A., Yücel M., Narin F., CEYLANER S., Canatan D.

Turkish Journal of Biochemistry , cilt.46, sa.1, ss.95-100, 2020 (SCI-Expanded, Scopus, TRDizin)

53. A novel mutation in the GP1BA gene in Bernard-Soulier syndrome

ÖZDEMİR Z. C., Düzenli Kar Y., CEYLANER S., BÖR Ö.

Blood Coagulation and Fibrinolysis , cilt.31, sa.1, ss.83-86, 2020 (SCI-Expanded, Scopus)

54. A rare case of primary coenzyme Q10 deficiency due to COQ9 mutation

Olgac A., Öztoprak Ü., Kasapkara Ç. S., Klllç M., Yüksel D., Derinkuyu E. B., et al.

Journal of Pediatric Endocrinology and Metabolism , cilt.33, sa.1, ss.165-170, 2020 (SCI-Expanded, Scopus)

55. Clinical features and outcomes of 23 patients with wiskottaldrich syndrome: A single-center experience Wiskott-aldrich sendromlu 23 hastanın klinik özellikleri ve sonuçları: Tek merkez deneyimi

Haskoloğlu Ş., Öztürk A., Öztürk G., Bal S. K., İslamoğlu C., Baskın K., et al.

Turkish Journal of Hematology , cilt.37, sa.4, ss.271-281, 2020 (SCI-Expanded, Scopus, TRDizin)

56. Importance of dna sequencing for abnormal hemoglobins detected by hplc screening Hplc ile tanımlanan anormal hemoglobinler için dna dizilemenin önemi

Canatan D., Çim A., Delibaş S., Altunsoy E., CEYLANER S.

Turkish Journal of Hematology , cilt.37, sa.2, ss.134-135, 2020 (SCI-Expanded, Scopus, TRDizin)

57. Ectopic posterior pituitary, polydactyly, midfacial hypoplasia and multiple pituitary hormone deficiency due to a novel heterozygous IVS11-2A>C(c.1957-2A>C) mutation in the GLI2 gene

Demiral M., DEMİRBİLEK H., Unal E., Durmaz C. D., CEYLANER S., Özbek M. N.

JCRPE Journal of Clinical Research in Pediatric Endocrinology , cilt.12, sa.3, ss.319-328, 2020 (SCI-Expanded, Scopus, TRDizin)

58. Clinical findings in five Turkish patients with citrin deficiency and identification of a novel mutation on SLC25A13

Köse M. D., Kagnici M., Özdemir T. R., Erdur C. B., Erdemir G., Karakoyun M., et al.

Journal of Pediatric Endocrinology and Metabolism , cilt.33, sa.1, ss.157-163, 2020 (SCI-Expanded, Scopus)

59. The prevalence of fabry disease among turkish patients with non-obstructive hypertrophic cardiomyopathy: Insights from a screening study

BARMAN H. A., İKİTİMUR B., Avcı B. K., DURMAZ E., Atıcı A., Aslan S., et al.

Balkan Medical Journal , cilt.36, sa.6, ss.354-358, 2019 (SCI-Expanded, Scopus, TRDizin)

60. Analysis of TP53 gene in uterine myomas: No mutations but P72R polymorphism is associated with myoma development

Altinkaya S. O., Avcioglu S. N., Sezer S. D., CEYLANER S.

Journal of Obstetrics and Gynaecology Research , cilt.45, sa.10, ss.2088-2094, 2019 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

61. Clinical, Histochemical, and Molecular Study of Three Turkish Siblings Diagnosed with H Syndrome, and Literature Review

ŞİMŞEK E., ŞİMŞEK T., Eren M., YILMAZ E., ARIK D., ÇİLİNGİR O., et al.

Hormone Research in Paediatrics , cilt.91, sa.5, ss.346-355, 2019 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

62. Prenatal Diagnosis of Osteogenesis Imperfecta Type III

Canda M. T., CEYLANER S., Doganay Caglayan L., Demir A. B., Demir N.

Journal of Obstetrics and Gynecology of India , cilt.69, sa.4, ss.374-376, 2019 (ESCI, Scopus)

63. A novel homozygous cyp19a1 gene mutation: Aromatase deficiency mimicking congenital adrenal hyperplasia in an infant without obvious maternal virilisation

Dursun F., CEYLANER S.

JCRPE Journal of Clinical Research in Pediatric Endocrinology , cilt.11, sa.2, ss.196-201, 2019 (SCI-Expanded, Scopus, TRDizin)

64. A rare case of prolidase deficiency with situs inversus totalis, identified by a novel mutation in the PEPD gene

Kiratli Nalbant E., Karaosmanoglu N., Kutlu O., CEYLANER S., Eksioglu H. M.

JAAD Case Reports , cilt.5, sa.5, ss.436-438, 2019 (Scopus)

65. Novel mutation in MASP1 gene in a new family with 3MC syndrome

Basdemirci M., Sen A., CEYLANER S.

Clinical Dysmorphology , cilt.28, sa.2, ss.91-93, 2019 (SCI-Expanded, Scopus)

66. Association of vitamin D receptor gene polymorphisms with osteosarcoma risk and prognosis

KURUCU N., Şahin G., Sarı N., CEYLANER S., İlhan İ. E.

Journal of Bone Oncology , cilt.14, 2019 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

67. When a common symptom of a neonate become an unusual diagnosis: A case report of HMG-CoA lyase deficiency with a novel mutation

Kasapkara C. S., Akar M., Ozbek M. N., Tuzun H., Akcaboy M., CEYLANER S.

Gazi Medical Journal , cilt.30, sa.3, ss.298-299, 2019 (ESCI, Scopus)

68. A Very Rare Etiology of Hypotonia and Seizures: Congenital Glutamine Synthetase Deficiency

Ünal O., CEYLANER S., Akln R.

Neuropediatrics , cilt.50, sa.1, ss.51-53, 2019 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

69. Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosis

Değerliyurt A., Gündüz M., CEYLANER S., Ünal Ö., Ünal S.

Turkish Journal of Pediatrics , cilt.61, sa.2, ss.261-266, 2019 (SCI-Expanded, Scopus, TRDizin)

70. Clinical features of 27 Turkish propionic acidemia patients with 12 novel mutations

KOR D., Şeker-Yılmaz B., Bulut F. D., Kılavuz S., Öktem M., CEYLANER S., et al.

Turkish Journal of Pediatrics , cilt.61, sa.3, ss.330-336, 2019 (SCI-Expanded, Scopus, TRDizin)

71. Ataxia, tremor, intellectual disability: A case of STXBP1 encephalopathy with a new mutation

Değerliyurt A., Kesen G. G., CEYLANER S.

Turkish Journal of Pediatrics , cilt.61, sa.5, ss.757-759, 2019 (SCI-Expanded, Scopus, TRDizin)

72. A rare structural myopathy: Nemaline myopathy Nadir bir yapisal miyopati: Nemalin miyopatisi

Yeşilbaş O., Şevketoğlu E., Kihtir H. S., Ersoy M., Petmezci M. T., Akkuş C. H., et al.

Turk Pediatri Arsivi , cilt.54, sa.1, ss.49-52, 2019 (ESCI, Scopus, TRDizin)

73. Nonketotic hyperglycinemia: Clinical range and outcome of a rare neurometabolic disease in a single-center

Genç Sel Ç., Kılıç M., Yüksel D., Aksoy A., Kasapkara Ç. S., CEYLANER S., et al.

Brain and Development , cilt.40, sa.10, ss.865-875, 2018 (SCI-Expanded, Scopus)

74. A rare mutation in the EPG5 gene causes Vici syndrome

Demiral E., Sen A., Esener Z., CEYLANER S., TEKEDERELİ İ.

Clinical Dysmorphology , cilt.27, sa.4, ss.145-147, 2018 (SCI-Expanded, Scopus)

75. Arare cause of fever of unknown origin: Hypohidrotic ectodermal dysplasia with a splice site mutation

Oguz M. M., Akcaboy M., Gurkan A., Acoglu E. A., Zorlu P., CEYLANER S., et al.

Minerva Pediatrica , cilt.70, sa.5, ss.493-495, 2018 (SCI-Expanded, Scopus)

76. Recurrent hepatic failure and status epilepticus: an uncommon presentation of hyperargininemia

Yucel H., Kasapkara Ç. S., Akcaboy M., Aksoy E., Sahin G. E., Derinkuyu B. E., et al.

Metabolic Brain Disease , cilt.33, sa.5, ss.1775-1778, 2018 (SCI-Expanded, Scopus)

77. Four Gaucher disease type II patients with three novel mutations: a single centre experience from Turkey

BULUT F. D., KOR D., Şeker-Yılmaz B., Hergüner Ö., CEYLANER S., Özkınay F., et al.

Metabolic Brain Disease , cilt.33, sa.4, ss.1223-1227, 2018 (SCI-Expanded, Scopus)

78. Identification of a new de novo mutation underlying regressive episodic ataxia type I

Karalok Z. S., Megaro A., Cenciarini M., Guven A., Hasan S. M., Taskin B. D., et al.

Frontiers in Neurology , cilt.9, sa.JUL, 2018 (SCI-Expanded, Scopus)

79. Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: A report of 203 patients from the southeastern part of Turkey

Yilmaz B. S., Mungan N. O., Kor D., Bulut D., Seydaoglu G., Öktem M., et al.

Journal of Pediatric Endocrinology and Metabolism , cilt.31, sa.3, ss.339-343, 2018 (SCI-Expanded, Scopus)

80. MaFOS-GDM trial: Maternal fish oil supplementation in women with gestational diabetes and cord blood DNA methylation at insulin like growth factor-1 (IGF-1) gene

Dilli D., Doğan N. N., İpek M. Ş., Çavuş Y., CEYLANER S., Doğan H., et al.

Clinical Nutrition ESPEN , cilt.23, ss.73-78, 2018 (ESCI, Scopus) Sürdürülebilir Kalkınma

81. A case of Riley Ruvalcaba syndrome with a novel PTEN mutation accompanied by diffuse testicular microlithiasis and precocious puberty

Ozsu E., Sen A., CEYLANER S.

Journal of Pediatric Endocrinology and Metabolism , cilt.31, sa.1, ss.95-99, 2018 (SCI-Expanded, Scopus)

82. A mutation in INSR in a child presenting with severe acanthosis nigricans

Tuhan H., CEYLANER S., Nalbantoğlu Ö., Acar S., ABACI A., BÖBER E., et al.

JCRPE Journal of Clinical Research in Pediatric Endocrinology , cilt.9, sa.4, ss.371-374, 2017 (SCI-Expanded, Scopus, TRDizin)

83. Early-onset severe obesity due to complete deletion of the leptin gene in a boy

Ozsu E., CEYLANER S., Onay H.

Journal of Pediatric Endocrinology and Metabolism , cilt.30, sa.11, ss.1227-1230, 2017 (SCI-Expanded, Scopus)

84. A novel genetic mutation in a Turkish family with GCK-MODY

Ahmet Ucakturk S., Gunindi F., CEYLANER S., Mengen E., Elmaogulları S., YÜKSEL B.

International Journal of Diabetes in Developing Countries , cilt.37, sa.3, ss.323-326, 2017 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

85. Type 1 rhizomelic chondrodysplasia punctata with a homozygous PEX7 mutation

Muratoǧlu Sahin N., Bilici M. E., Kurnaz E., Pala Akdoǧan M., CEYLANER S., AYCAN Z.

Journal of Pediatric Endocrinology and Metabolism , cilt.30, sa.8, ss.889-892, 2017 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

86. Improved metabolic control in tetrahydrobiopterin (BH4), responsive phenylketonuria with sapropterin administered in two divided doses vs. a single daily dose

KOR D., Yilmaz B. Ş., BULUT F. D., CEYLANER S., Mungan N. Ö.

Journal of Pediatric Endocrinology and Metabolism , cilt.30, sa.7, ss.713-718, 2017 (SCI-Expanded, Scopus)

87. Congenital Glucose–Galactose Malabsorption in a Turkish Newborn: A Novel Mutation of Na+/Glucose Cotransporter Gene

Atay F. Y., Derme T., Uras N., CEYLANER G., CEYLANER S., Sari F. N., et al.

Digestive Diseases and Sciences , cilt.62, sa.1, ss.280-281, 2017 (SCI-Expanded, Scopus)

88. A case of vitamin d-dependent rickets type 1a with a novel mutation in the uzbek population

Özcabı B., Bucak F. T., Jaferova S., Oruç Ç., Adrovic A., CEYLANER S., et al.

JCRPE Journal of Clinical Research in Pediatric Endocrinology , cilt.8, sa.4, ss.484-489, 2016 (SCI-Expanded, Scopus, TRDizin)

89. Crouzonodermoskeletal syndrome with hypoplasia of corpus callosum and inferior vermis

Gürbüz F., CEYLANER S., TOPALOĞLU A. K., YÜKSEL B.

JCRPE Journal of Clinical Research in Pediatric Endocrinology , cilt.8, sa.3, ss.373-374, 2016 (SCI-Expanded, Scopus, TRDizin)

90. Excellent response to deep brain stimulation in a young girl with GNAO1-related progressive choreoathetosis

YILMAZ SÜSLÜER S., Turhan T., CEYLANER S., GÖKBEN S., TEKGÜL H., Serdaroglu G.

Child's Nervous System , cilt.32, sa.9, ss.1567-1568, 2016 (SCI-Expanded, Scopus)

91. Cystinosis in Eastern Turkey

Doǧan M., Bulan K., Kaba S., Cesur Y., CEYLANER S., Ustyol L.

Journal of Pediatric Endocrinology and Metabolism , cilt.29, sa.8, ss.965-969, 2016 (SCI-Expanded, Scopus)

92. Rodriguez lethal acrofacial dysostosis syndrome with ambiguous genitalia

Ural U. M., CEYLANER S.

Taiwanese Journal of Obstetrics and Gynecology , cilt.55, sa.4, ss.613-615, 2016 (SCI-Expanded, Scopus)

93. Sertoli cell only syndrome with ambiguous genitalia

Gurbuz F., CEYLANER S., ERDOĞAN Ş., TOPALOĞLU A. K., YÜKSEL B.

Journal of Pediatric Endocrinology and Metabolism , cilt.29, sa.7, ss.849-852, 2016 (SCI-Expanded, Scopus)

94. Mitochondrial membrane protein-associated neurodegeneration in a Turkish patient

İNCECİK F., Hergüner O., Besen S., CEYLANER S.

Journal of Pediatric Neurosciences , cilt.11, sa.3, ss.288-289, 2016 (ESCI, Scopus)

95. Early-Onset Mild Type Leukoencephalopathy Caused by a Homozygous EARS2 Mutation

Taskin B. D., Karalok Z. S., Gurkas E., Aydin K., Aydogmus U., CEYLANER S., et al.

Journal of Child Neurology , cilt.31, sa.7, ss.938-941, 2016 (SCI-Expanded, Scopus)

96. Maturity onset diabetes of youth (MODY) in Turkish children: Sequence analysis of 11 causative genes by next generation sequencing

Aǧladioǧlu S. Y., AYCAN Z., Çetinkaya S., Baş V. N., Önder A., Peltek Kendirci H. N., et al.

Journal of Pediatric Endocrinology and Metabolism , cilt.29, sa.4, ss.487-496, 2016 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

97. Combination of two different homozygote mutations in Pompe disease

Arslan A., Poyrazoʇlu H. G., Kiraz A., ÖZCAN A., Işik H., Ergul A. B., et al.

Pediatrics International , cilt.58, sa.3, ss.241-243, 2016 (SCI-Expanded, Scopus)

98. Coexistence of kabuki syndrome and autoimmune thyroiditis

Gürbüz F., Yüreğir Ö. Ö., CEYLANER S., TOPALOĞLU A. K., YÜKSEL B.

JCRPE Journal of Clinical Research in Pediatric Endocrinology , cilt.8, sa.1, ss.105-106, 2016 (SCI-Expanded, Scopus, TRDizin)

99. Brown-Vialetto-Van Laere syndrome: Two siblings with a new mutation and dramatic therapeutic effect of high-dose riboflavin

Horoz O. O., Mungan N. O., Yildizdas D., Hergüner Ö., CEYLANER S., KOR D., et al.

Journal of Pediatric Endocrinology and Metabolism , cilt.29, sa.2, ss.227-231, 2016 (SCI-Expanded, Scopus)

100. Vici syndrome in siblings born to consanguineous parents

Tasdemir S., ŞAHİN İ., Cayir A., Yuce I., CEYLANER S., TATAR A.

American Journal of Medical Genetics, Part A , cilt.170, sa.1, ss.220-225, 2016 (SCI-Expanded, Scopus)

101. KEPT in mind infantile neuroaxonal dystrophy

Karalok Z., Taskin B., Aydogmus U., CEYLANER S., Karaer K., Yilmaz C.

Genetic Counseling , cilt.27, sa.2, ss.279-282, 2016 (SCI-Expanded, Scopus)

102. Molecular diagnosis of maturity-onset diabetes of the young (MODY) in Turkish children by using targeted next-generation sequencing

Anlk A., Cątll G., Abacl A., Sarl E., Yeşilkaya E., Korkmaz H. A., et al.

Journal of Pediatric Endocrinology and Metabolism , cilt.28, sa.11-12, ss.1265-1271, 2015 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

103. Mitochondrial Membrane Protein-Associated Neurodegeneration

YILMAZ SÜSLÜER S., GÖKBEN S., CEYLANER S.

Pediatric Neurology , cilt.53, sa.4, ss.373-374, 2015 (SCI-Expanded, Scopus)

104. Merosin-negative congenital muscular dystrophy: Report of five cases

İNCECİK F., Herguner O. M., CEYLANER S., ALTUNBAŞAK Ş.

Journal of Pediatric Neurosciences , cilt.10, sa.4, ss.346-349, 2015 (ESCI, Scopus)

105. Testotoxicosis: Report of two cases, one with a novel mutation in LHCGR gene

Özcabı B., Bucak F. T., CEYLANER S., ÖZCAN R., Büyükünal C., ERCAN O., et al.

JCRPE Journal of Clinical Research in Pediatric Endocrinology , cilt.7, sa.3, ss.242-248, 2015 (SCI-Expanded, Scopus, TRDizin)

106. A rare cause of fatal pulmonary alveolar proteinosis: Niemann-Pick disease type C2 and a novel mutation

Yaman A., Eminoʇlu F. T., KENDİRLİ T., Ödek Ç., CEYLANER S., KANSU TANCA A., et al.

Journal of Pediatric Endocrinology and Metabolism , cilt.28, sa.9-10, ss.1163-1167, 2015 (SCI-Expanded, Scopus)

107. Primary systemic carnitine deficiency: A Turkish case with a novel homozygous SLC22A5 mutation and 14 years follow-up

Yilmaz B. S., KOR D., Mungan N. O., Erdem S., CEYLANER S.

Journal of Pediatric Endocrinology and Metabolism , cilt.28, sa.9-10, ss.1179-1181, 2015 (SCI-Expanded, Scopus)

108. Giant axonal disease: Report of eight cases

İNCECİK F., Herguner O. M., CEYLANER S., ZORLUDEMİR S., ALTUNBAŞAK Ş.

Brain and Development , cilt.37, sa.8, ss.803-807, 2015 (SCI-Expanded, Scopus)

109. Pyridoxine-dependent epilepsy in two Turkish patients in Turkey and review of the literature

Mert G. G., İNCECİK F., Özlem Hergüner M., CEYLANER S., ALTUNBAŞAK Ş.

Turkish Journal of Pediatrics , cilt.57, sa.4, ss.394-397, 2015 (SCI-Expanded, Scopus, TRDizin)

110. Two Novel Missense Mutations in Nonketotic Hyperglycinemia

Yilmaz B. S., KOR D., CEYLANER S., Mert G. G., İNCECİK F., Kartal E., et al.

Journal of Child Neurology , cilt.30, sa.6, ss.789-792, 2015 (SCI-Expanded, Scopus)

111. Three cases of Wolfram syndrome with different clinical aspects

Çamtosun E., ŞIKLAR Z., Kocaay P., CEYLANER S., Flanagan S. E., Ellard S., et al.

Journal of Pediatric Endocrinology and Metabolism , cilt.28, sa.3-4, ss.433-438, 2015 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

112. Unilateral ectrodactyly in a newborn with trisomy 18 syndrome: An unusual association

Kislal F. M., Altuntas N., Ozdemir O., CEYLANER S., Kislal M. H., Andiran N.

Journal of the College of Physicians and Surgeons Pakistan , cilt.25, sa.8, ss.619-620, 2015 (SCI-Expanded, Scopus)

113. Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

Romani M., Mancini F., Micalizzi A., Poretti A., Miccinilli E., Accorsi P., et al.

Human Genetics , cilt.134, sa.1, ss.123-126, 2015 (SCI-Expanded, Scopus)

114. Single median maxillary central incisor syndrome and its clinical importance

Aydemr H., Aydemr S., BEZGİN T., CEYLANER S., Senel S.

Genetic Counseling , cilt.25, sa.4, ss.453-455, 2015 (SCI-Expanded, Scopus)

115. Citrin deficiency: An infant incidentally detected by phenylketonuria screening with a novel mutation in SLC25A 13 gene

AKTUĞLU ZEYBEK A. Ç., KIYKIM E., ZÜBARİOĞLU T., CANSEVER M. Ş., CEYLANER S., Erkan T.

Genetic Counseling , cilt.26, sa.4, ss.409-413, 2015 (SCI-Expanded, Scopus)

116. A familial case of Coffin-Lowry syndrome caused by RPS6KA3 C.898C>T mutation associated with multiple abnormal brain imaging findings

Tos T., Alp M., Aksoy A., CEYLANER S., Uer A.

Genetic Counseling , cilt.26, sa.1, ss.47-52, 2015 (SCI-Expanded, Scopus)

117. Reversible clinical and magnetic resonance imaging findings in late-onset cobalamin C defect

Gurkas E., Kartal A., Aydin K., Kucukçongar A., Dilber C., CEYLANER S.

Genetic Counseling , cilt.26, sa.4, ss.425-430, 2015 (SCI-Expanded, Scopus)

118. Turkish cases of early infantile epileptic encephalopathy: Two novel mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene

GÖKBEN S., Serdaroğlu G., Yılmaz S., Bienvenu T., CEYLANER S.

Turkish Journal of Pediatrics , cilt.57, sa.3, ss.272-276, 2015 (SCI-Expanded, Scopus, TRDizin)

119. Stimulus-induced myoclonus treated effectively with clonazepam in genetically confirmed Coffin-Lowry syndrome

Arslan E. A., CEYLANER S., Turanli G.

Epilepsy and Behavior Case Reports , cilt.2, ss.196-198, 2014 (ESCI, Scopus)

120. Reversible pulmonary arterial hypertension in cobalamin-dependent cobalamin C disease due to a novel mutation in the MMACHC gene

Gündüz M., Ekici F., Özaydın E., CEYLANER S., Perez B.

European Journal of Pediatrics , cilt.173, sa.12, ss.1707-1710, 2014 (SCI-Expanded, Scopus)

121. X-linked adrenoleukodystrophy in a 6-year-old boy initially presenting with psychiatric symptoms

İNCECİK F., HERGÜNER M., Mert G., Önenli-Mungan N., CEYLANER S., KOR D., et al.

Turkish Journal of Pediatrics , cilt.56, sa.6, ss.651-653, 2014 (SCI-Expanded, Scopus)

122. A novel missense mutation in HSD17B3 gene in a 46, XY adolescent presenting with primary amenorrhea and virilization at puberty

Tuhan H. U., Anik A., Catli G., CEYLANER S., Dundar B., BÖBER E., et al.

Clinica Chimica Acta , cilt.438, ss.154-156, 2014 (SCI-Expanded, Scopus)

123. A novel heterozygous mutation in steroidogenic factor-1 in pubertal virilization of a 46,XY female adolescent

ŞIKLAR Z., BERBEROĞLU M., CEYLANER S., Çamtosun E., Kocaay P., GÖLLÜ BAHADIR G., et al.

Journal of Pediatric and Adolescent Gynecology , cilt.27, sa.2, ss.98-101, 2014 (SCI-Expanded, Scopus)

124. Cytokine concentrations in pediatric patients with Crimean-Congo hemorrhagic fever

TEZER H., Ozkaya-Parlakay A., Kizilgün M., Kaya A., Gulhan B., Yüksek S. K., et al.

Pediatric Infectious Disease Journal , cilt.33, sa.11, ss.1185-1187, 2014 (SCI-Expanded, Scopus)

125. Chronic lymphocytic leukemia in a child: A challenging diagnosis in pediatric oncology practice

Demir H. A., Bayhan T., ÜNER A., KURTULAN O., Karakuş E., Emir S., et al.

Pediatric Blood and Cancer , cilt.61, sa.5, ss.933-935, 2014 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

126. Recurrent proximal 18p monosomy and 18q trisomy in a family due to a pericentric inversion

Zamani A. G., Acar A., Durakbasi-Dursun G., Yildirim M. S., CEYLANER S., Tuncez E.

American Journal of Medical Genetics, Part A , cilt.164, sa.5, ss.1239-1244, 2014 (SCI-Expanded, Scopus)

127. Are low maternal estriol levels a predictor for pro-opiomelanocortin (POMC) deficiency caused by POMC mutation during pregnancy?

Aldemir O., ÖZEN S., Sanlialp C., CEYLANER S.

Prenatal Diagnosis , cilt.33, sa.13, ss.1297-1298, 2013 (SCI-Expanded, Scopus)

128. Prenatal diagnosis of goldenhar syndrome with unusual features by 3D ultrasonography

Guzelmansur I., CEYLANER G., CEYLANER S., CEYLAN N., Daplan T.

Genetic Counseling , cilt.24, sa.3, ss.319-325, 2013 (SCI-Expanded, Scopus)

129. Acromesomelic dysplasia with cardiac and neurologic abnormalities: An association by chance, new features of Maroteaux type or a new syndrome?

Kurt F., CEYLANER S., Yakut H.

Genetic Counseling , cilt.24, sa.1, ss.75-80, 2013 (SCI-Expanded, Scopus)

130. Primary adrenal insufficiency caused by a novel mutation in DAX1 gene

EVLİYAOĞLU S. O., Dokurel I., Bucak F., Özcabi B., ERCAN O., CEYLANER S.

JCRPE Journal of Clinical Research in Pediatric Endocrinology , cilt.5, sa.1, ss.55-57, 2013 (SCI-Expanded, Scopus)

131. Nephron-sparing surgery for renal cell carcinoma of the allograft after renal transplantation: Report of two cases

TÜZÜNER A., Çakir F., AKYOL C., Çelebi Z., CEYLANER S., CEYLANER G., et al.

Transplantation Proceedings , cilt.45, sa.3, ss.958-960, 2013 (SCI-Expanded, Scopus)

132. Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

Travaglini L., Brancati F., Silhavy J., Iannicelli M., Nickerson E., Elkhartoufi N., et al.

European Journal of Human Genetics , cilt.21, sa.10, ss.1074-1078, 2013 (SCI-Expanded, Scopus)

133. Novel CRLF1 gene mutation in a newborn infant diagnosed with Crisponi syndrome

Hakan N., Eminoglu F. T., Aydin M., Zenciroglu A., Karadag N. N., Dursun A., et al.

Congenital Anomalies , cilt.52, sa.4, ss.216-218, 2012 (SCI-Expanded, Scopus)

134. A new family with autosomal dominant porencephaly with a novel COL4A1 mutation. Are arachnoid cysts related to COL4A1 mutations?

Deǧerliyurt A., CEYLANER G., Koçak H., Bilginer Gürbüz B., Cihan B., Rizzu P., et al.

Genetic Counseling , cilt.23, sa.2, ss.185-193, 2012 (SCI-Expanded, Scopus)

135. A 7q11.23 microduplication patient with cerebral palsy and facial dysmorphism

Deǧerliyurt A., CEYLANER S., ÖZDAĞ SEVGİLİ H.

Genetic Counseling , cilt.23, sa.2, ss.263-267, 2012 (SCI-Expanded, Scopus)

136. Hydranencephaly, pituitary hypoplasia, and anophthalmia in a male infant

Köstü M., Tuncer O., CEYLANER S., Çaksen H.

Clinical Dysmorphology , cilt.21, sa.3, ss.155-156, 2012 (SCI-Expanded, Scopus)

137. The earlier described mutation (c.307C> T [p.R103X]) in the SRD5A2 gene causing a 46,XY female phenotype

ŞİMŞEK E., Binay C., CEYLANER S.

Journal of Pediatric Endocrinology and Metabolism , cilt.25, sa.5-6, ss.543-545, 2012 (SCI-Expanded, Scopus)

138. High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey

Kalb S., ÇAĞLAYAN A. O., Degerliyurt A., Schmid S., CEYLANER S., HATİPOĞLU N., et al.

Clinical Genetics , cilt.81, sa.6, ss.598-601, 2012 (SCI-Expanded, Scopus)

139. Genetic evaluation of severe male factor infertility in Turkey: A cross-sectional study

Cavkaytar S., Batioglu S., Gunel M., CEYLANER S., KARAER A.

Human Fertility , cilt.15, sa.2, ss.100-106, 2012 (SCI-Expanded, Scopus)

140. Ovulation induction with gonadotropins causes increased sister chromatid exchanges

Tonguç E., CEYLANER G., Var T., Zülfikaroǧlu E., CEYLANER S.

Genetic Counseling , cilt.22, sa.2, ss.193-198, 2011 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

141. A child with XYY karyotype and epilepsy

Deǧerliyurt A., CEYLANER G., CEYLANER S.

Journal of Pediatric Neurology , cilt.9, sa.2, ss.255-258, 2011 (ESCI, Scopus)

142. Coexistence of borderline ovarian epithelial tumor, primary pelvic hydatid cyst, and lymphoepithelioma-like gastric carcinoma

Gungor T., Altinkaya S. O., Sirvan L., Lafuente R. A., CEYLANER S.

Taiwanese Journal of Obstetrics and Gynecology , cilt.50, sa.2, ss.201-204, 2011 (SCI-Expanded, Scopus)

143. A new variant of a known mutation in two siblings with permanent neonatal diabetes mellitus

AYCAN Z., Çetinkaya S., Oǧuz Ş. S., CEYLANER S.

Journal of Pediatric Endocrinology and Metabolism , cilt.24, sa.5-6, ss.373-375, 2011 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

144. A novel mutation in the RPS6KA3 gene in a patient with Coffin-Lowry syndrome

Senel S., CEYLANER S., CEYLANER G., Hanli Sahin A., Andrieux J., Delaunoy J.

Genetic Counseling , cilt.22, sa.1, ss.21-24, 2011 (SCI-Expanded, Scopus)

145. Vascular endothelial growth factor +405 C/G polymorphism is highly associated with an increased risk of endometriosis in Turkish women

Altinkaya S. O., Ugur M., CEYLANER G., Ozat M., Gungor T., CEYLANER S.

Archives of Gynecology and Obstetrics , cilt.283, sa.2, ss.267-272, 2011 (SCI-Expanded, Scopus)

146. Histopathological analysis of the placental lesions in pregnancies complicated with iugr and stillbirths in comparison with noncomplicated pregnancies Iugr ve ölü doǧumlarla komplike olmuş gebeliklerde plasental lezyonların histopatolojik analizi ve nonkomplike gebeliklerle karşılaştırılması

GÜNYELİ İ., ERDEMOĞLU E., CEYLANER S., Zergeroǧlu S., Mungan T.

Journal of the Turkish German Gynecology Association , cilt.12, sa.2, ss.75-79, 2011 (ESCI, Scopus, TRDizin)

147. An uncommon complementary isochromosome of 46,XY, i(9)(p10),i(9)(q10) in an infertile oligoasthenoteratozoospermic man

Guvendag Guven E. S., Dilbaz S., CEYLANER S., Acar H., Cinar O., Ozdegirmenci O., et al.

Fertility and Sterility , cilt.95, sa.1, 2011 (SCI-Expanded, Scopus)

148. Sporadic nonautoimmune neonatal hyperthyroidism due to A623V germline mutation in the thyrotropin receptor gene

AYCAN Z., Aǧladioǧlu S. Y., CEYLANER S., Çetinkaya S., Baş V. N., Kendirci H. N. P.

JCRPE Journal of Clinical Research in Pediatric Endocrinology , cilt.2, sa.4, ss.168-172, 2010 (SCI-Expanded, Scopus)

149. A case of lower mesodermal defects sequence

Tos T., Aktas S., Ikbal M., Avci M., Senel S., CEYLANER S.

Genetic Counseling , cilt.21, sa.4, ss.381-384, 2010 (SCI-Expanded, Scopus)

150. A case of otocephaly with anencephaly and meningomyelocele

Tos T., CEYLANER S., Senel S., Aktas S., Alp Y.

Genetic Counseling , cilt.21, sa.3, ss.325-328, 2010 (SCI-Expanded, Scopus)

151. Carmi syndrome with congenital heart defects

Aydin M., Zenciroglu A., Yaman A., Orun U. A., Arda N., Colak A. G., et al.

American Journal of Medical Genetics, Part A , cilt.152, sa.8, ss.2120-2122, 2010 (SCI-Expanded, Scopus)

152. A Smith Lemli Opitz syndrome patient diagnosed with mild symptoms Hafif klinik belirtilerle tani alan bir Smith Lemli Opitz sendromu olgusu

Deǧerliyurt A., KILIÇ YILDIRIM G., AYCAN Z., CEYLANER S.

Turkiye Klinikleri Pediatri , cilt.19, sa.2, ss.191-194, 2010 (Scopus)

153. Lumbocostovertebral syndrome in an infant of a diabetic mother

Okumus N., Bas A. Y., Demirel N., Zenciroglu A., Surmeli S., CEYLANER S.

American Journal of Medical Genetics, Part A , cilt.152, sa.6, ss.1374-1377, 2010 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

154. Partial trisomy due to a de novo duplication 22q11.1-22q13.1: A cat-eye syndrome variant with brain anomalies

Karcaaltincaba D., CEYLANER S., CEYLANER G., Dalkilic S., Karli-Oguz K., Kandemr O.

Genetic Counseling , cilt.21, sa.1, ss.19-24, 2010 (SCI-Expanded, Scopus)

155. Mutations in SLC29a3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease

Morgan N. V., Morris M. R., Cangul H., Gleeson D., Straatman-Iwanowska A., Davies N., et al.

PLoS Genetics , cilt.6, sa.2, 2010 (SCI-Expanded, Scopus)

156. Genetic abnormalities in Turkish women with premature ovarian failure

CEYLANER G., Altinkaya S. O., Mollamahmutoglu L., CEYLANER S.

International Journal of Gynecology and Obstetrics , cilt.110, sa.2, ss.122-124, 2010 (SCI-Expanded, Scopus)

157. Multiple pterygium syndrome: A case report, comparison with fetal akinesia sequence and pterygium syndrome Multiple pterygium sendromu: Olgu sunumu, fetal akinezi sekansi ve pterygium sendromu ile karşilaştirilmasi

Kişlal F. M., Pinar R., CEYLANER S., Dilmen U., Cörüt N.

Guncel Pediatri , cilt.7, sa.2, ss.101-103, 2009 (SCI-Expanded, Scopus, TRDizin)

158. A Feingold syndrome case with previously undescribed features and a new mutation

Koçak H., Özaydin E., Köse G., Marcelis C., Kamsteeg E., CEYLANER S.

Genetic Counseling , cilt.20, sa.3, ss.261-267, 2009 (SCI-Expanded, Scopus)

159. A prenatally diagnosed pentalogy of cantrell case with encephaloce: A rare variant Prenatal tanisi konmuş Cantrell Pentaloji̇si̇olgusu: Ensefaloseli̇n eşli̇k etti̇ǧi̇nadi̇r ḃir varyant

Güven M. A., CEYLANER G., CEYLANER S., Coşkun A., Bayazit H.

Turk Jinekoloji ve Obstetrik Dernegi Dergisi , cilt.6, sa.2, ss.123-127, 2009 (Scopus, TRDizin)

160. Prenatal diagnosis of a case with anencephaly-omphalocele-unilateral absent radial ray

CEYLANER S., CEYLANER G., Altun M., Coşkun A., Danişman N.

Genetic Counseling , cilt.20, sa.2, ss.189-193, 2009 (SCI-Expanded, Scopus)

161. Prenatal diagnosis of a case probably with oral-facial-digital syndrome - Gabrielli type

Güven M., CEYLANER G., CEYLANER S., ÜZEL M., Coskun A.

Genetic Counseling , cilt.20, sa.2, ss.167-172, 2009 (SCI-Expanded, Scopus)

162. A boy with trisomy 13 presenting with a subtle clinical picture and metopic synostosis

ÜNAL S., Celik F. C., Soy D., CEYLANER S., Ceylaner G.

American Journal of Medical Genetics, Part A , cilt.149, sa.7, ss.1608-1609, 2009 (SCI-Expanded, Scopus)

163. Hypomelanosis of Ito and Sturge-Weber Syndrome Without Facial Nevus: An Association or a New Syndrome?

Deǧerliyurt A., Kantar A., CEYLANER S., Aysun S.

Pediatric Neurology , cilt.40, sa.5, ss.395-397, 2009 (SCI-Expanded, Scopus)

164. Results of ICSI in severe oligozoospermic and azoospermic patients with AZF microdeletions

Kilic S., Yuksel B., Yilmaz N., Ozdemir E., Ozturk U., CEYLANER S., et al.

Iranian Journal of Reproductive Medicine , cilt.7, sa.2, ss.79-84, 2009 (SCI-Expanded, Scopus)

165. A prenatally diagnosed case of sirenomelia with polydactyly and vestigial tail

Guven M., ÜZEL M., CEYLANER S., Coskun A., CEYLANER G., Gungoren A.

Genetic Counseling , cilt.19, sa.4, ss.419-424, 2008 (SCI-Expanded, Scopus)

166. A case of rhizomelic chondrodysplasia punctata complicated with fetal arrhythmia

Dilli D., Yasar H., Baydar Z., Dilmen U., CEYLANER S., Altuǧ N., et al.

Erciyes Tip Dergisi , cilt.30, sa.4, ss.278-283, 2008 (ESCI, Scopus, TRDizin)

167. Goldenhar syndrome associated with growth hormone deficiency

Yusufoǧlu A., Çetinkaya E., CEYLANER S., AYCAN Z., Kibar E., Ekici F., et al.

Genetic Counseling , cilt.19, sa.2, ss.173-176, 2008 (SCI-Expanded, Scopus)

168. Apparent Lenz microphthalmia syndrome: A patient with unusual manifestations

Okumus N., Zenciroglu A., Demrel N., Bas A., CEYLANER S.

Genetic Counseling , cilt.19, sa.2, ss.177-182, 2008 (SCI-Expanded, Scopus)

169. GJB2 and mitochondrial A1555G gene mutations in nonsyndromic profound hearing loss and carrier frequencies in healthy individuals

Baysal E., Bayazit Y., CEYLANER S., Alatas N., Donmez B., CEYLANER G., et al.

Journal of Genetics , cilt.87, sa.1, ss.53-57, 2008 (SCI-Expanded, Scopus)

170. Y chromosome azoospermia factor region microdeletions and recurrent pregnancy loss

Karaer A., Karaer K., Ozaksit G., CEYLANER S., PERÇİN F. E.

American Journal of Obstetrics and Gynecology , cilt.199, sa.6, 2008 (SCI-Expanded, Scopus)

171. Autosomal dominant inheritance of congenital dislocation of the hip in 16 members of a family Bir ailenin 16 üyesinde otozomal dominant kalıtım gösteren gelişimsel kalça çıkıǧı

CEYLANER G., CEYLANER S., Ustunkan F., Inan M.

Acta Orthopaedica et Traumatologica Turcica , cilt.42, sa.4, ss.289-291, 2008 (SCI-Expanded, Scopus, TRDizin)

172. Chromosomal heteromorphisms may help for the diagnosis of uniparental disomy (UPD): A case report

CEYLANER G., CEYLANER S., Danişman N., Ergün A., Ekici E., Schinzel A., et al.

Prenatal Diagnosis , cilt.27, sa.11, ss.1072-1074, 2007 (SCI-Expanded, Scopus)

173. Neu-Laxova syndrome, grossly appearing normal on 20 weeks ultrasonographic scan, that manifested late in pregnancy: A case report

Kahyaoglu S., Turgay I., Ertas I. E., CEYLANER S., Danisman N.

Archives of Gynecology and Obstetrics , cilt.276, sa.4, ss.367-370, 2007 (SCI-Expanded, Scopus)

174. Evaluation of 2407 fetuses in a Turkish population

CEYLANER G., CEYLANER S., Günyeli I., Ekici E., Celasun B., Danişman N.

Prenatal Diagnosis , cilt.27, sa.9, ss.800-807, 2007 (SCI-Expanded, Scopus)

175. Correspondence: Is it a Proteus syndrome? [3]

Senel S., Senel E., CEYLANER S.

Journal of Pediatric Orthopaedics Part B , cilt.16, sa.5, ss.385, 2007 (SCI-Expanded, Scopus)

176. Proteus Syndrome in the aetiology of carpal tunnel syndrome

Senel S., Okumus N., CEYLANER S.

Acta Orthopaedica Belgica , cilt.73, sa.4, ss.548, 2007 (SCI-Expanded, Scopus)

177. Prenatal diagnosis of a Turkish Bartsocas-Papas syndrome case with upper limb pterigia

CEYLANER G., Güven M. A., CEYLANER S., ÜZEL M., Müftüoǧlu K.

Prenatal Diagnosis , cilt.27, sa.6, ss.563-565, 2007 (SCI-Expanded, Scopus)

178. Prenatal diagnosis of Meckel Gruber syndrome presenting with renal agenesis: report of a case.

Guven M., CEYLANER S., CEYLANER G., Gul D., Ertas L.

Genetic counseling (Geneva, Switzerland) , cilt.17, sa.1, ss.65-68, 2006 (SCI-Expanded, Scopus)

179. Extremely skewed X-chromosome inactivation patterns in women with recurrent spontaneous abortion

Bagislar S., Ustuner I., Cengiz B., Soylemez F., Akyerli C. B., CEYLANER S., et al.

Australian and New Zealand Journal of Obstetrics and Gynaecology , cilt.46, sa.5, ss.384-387, 2006 (SCI-Expanded, Scopus)

180. An infant with diaphragmatic hernia, anophthalmia and cardiac defect: Evaluation by magnetic resonance imaging autopsy

CEYLANER S., Gozer H., CEYLANER G., Ertas I., Kizilates S., Edguer T.

Genetic Counseling , cilt.17, sa.2, ss.231-236, 2006 (SCI-Expanded, Scopus)

181. Prenatal and postnatal findings in a case with the autosomal recessive type of Robinow syndrome

Guven M. A., Batukan C., CEYLANER S., ÜZEL M., Ozbek A., Demirpolat G.

Fetal Diagnosis and Therapy , cilt.21, sa.4, ss.386-389, 2006 (SCI-Expanded, Scopus)

182. A case of fetal anticonvulsant syndrome with severe bilateral upper limb defect

Guven M. A., Batukan C., CEYLANER S., CEYLANER G., ÜZEL M.

Journal of Maternal-Fetal and Neonatal Medicine , cilt.19, sa.2, ss.115-117, 2006 (SCI-Expanded, Scopus)

183. Postmortem evaluation of 220 prenatally diagnosed fetuses with neural tube defects: Detection of associated anomalies in a Turkish population

CEYLANER S., CEYLANER G., Günyeli I., Ekici E., Tuǧ M., Taner D., et al.

Prenatal Diagnosis , cilt.26, sa.2, ss.147-153, 2006 (SCI-Expanded, Scopus)

187. A novel mutation in the lysyl hydroxylase 1 gene causes decreased lysyl hydroxylase activity in an ehlers-danlos VIA patient

Walker L. C., Overstreet M. A., Siddiqui A., De Paepe A., CEYLANER G., Malfait F., et al.

Journal of Investigative Dermatology , cilt.124, sa.5, ss.914-918, 2005 (SCI-Expanded, Scopus)

193. Evaluation of segregation patterns of 21;21 Robertsonian translocation along with sex chromosomes and interchromosomal effects in sperm nuclei of carrier by FISH technique

Acar H., Yildirim M. S., Çora T., CEYLANER S.

Molecular Reproduction and Development , cilt.63, sa.2, ss.232-236, 2002 (SCI-Expanded, Scopus)

194. Cutis laxa with growth and developmental delay [2]

Karakurt C., Sipahi T., CEYLANER S., Şenocak F., Karademir S., Becer M.

Clinical Pediatrics , cilt.40, sa.7, ss.422-423, 2001 (SCI-Expanded, Scopus)

195. A large Turkish kindred with syndactyly type II (synpolydactyly). 1 Field investigation, clinical and pedigree data

Sayli B. S., Akarsu A. N., Sayli U., AKHAN O., CEYLANER S., Sarfarazi M.

Journal of Medical Genetics , cilt.32, sa.6, ss.421-434, 1995 (SCI-Expanded, Scopus)

Yayınlar & Eserler