SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler
173
10. Glycogen storage disease type XII; An ultra rare cause of hemolytic anemia and rhabdomyolysis: One new case report
Journal of Pediatric Endocrinology and Metabolism
, cilt.34, sa.10, ss.1335-1339, 2021 (SCI-Expanded)



12. Retrospective evaluation of patients with X-linked adrenoleukodystrophy with a wide range of clinical presentations: A single center experience
Journal of Pediatric Endocrinology and Metabolism
, cilt.34, sa.9, ss.1169-1179, 2021 (SCI-Expanded)



13. Molecular and clinical findings of Turkish patients with hereditary fructose intolerance
Journal of Pediatric Endocrinology and Metabolism
, cilt.34, sa.8, ss.1017-1022, 2021 (SCI-Expanded)



28. Clinical and genetic characteristics of patients with corticosterone methyloxidase deficiency type 2: Novel mutations in cyp11b2
JCRPE Journal of Clinical Research in Pediatric Endocrinology
, cilt.13, sa.2, ss.232-238, 2021 (SCI-Expanded)





29. Is Bioavailable Vitamin D Better Than Total Vitamin D to Evaluate Vitamin D Status in Obese Children?
JCRPE Journal of Clinical Research in Pediatric Endocrinology
, cilt.13, sa.4, ss.391-399, 2021 (SCI-Expanded)





32. Genetic management algorithm in high-risk fabry disease cases; especially in female indexes with mutations
Endocrine, Metabolic and Immune Disorders - Drug Targets
, cilt.21, sa.2, ss.324-337, 2021 (SCI-Expanded)




71. A mutation in INSR in a child presenting with severe acanthosis nigricans
JCRPE Journal of Clinical Research in Pediatric Endocrinology
, cilt.9, sa.4, ss.371-374, 2017 (SCI-Expanded)





72. Early-onset severe obesity due to complete deletion of the leptin gene in a boy
Journal of Pediatric Endocrinology and Metabolism
, cilt.30, sa.11, ss.1227-1230, 2017 (SCI-Expanded)



73. A novel genetic mutation in a Turkish family with GCK-MODY
International Journal of Diabetes in Developing Countries
, cilt.37, sa.3, ss.323-326, 2017 (SCI-Expanded)



77. A case of vitamin d-dependent rickets type 1a with a novel mutation in the uzbek population
JCRPE Journal of Clinical Research in Pediatric Endocrinology
, cilt.8, sa.4, ss.484-489, 2016 (SCI-Expanded)




78. Crouzonodermoskeletal syndrome with hypoplasia of corpus callosum and inferior vermis
JCRPE Journal of Clinical Research in Pediatric Endocrinology
, cilt.8, sa.3, ss.373-374, 2016 (SCI-Expanded)




85. Coexistence of kabuki syndrome and autoimmune thyroiditis
JCRPE Journal of Clinical Research in Pediatric Endocrinology
, cilt.8, sa.1, ss.105-106, 2016 (SCI-Expanded)




90. Molecular diagnosis of maturity-onset diabetes of the young (MODY) in Turkish children by using targeted next-generation sequencing
Journal of Pediatric Endocrinology and Metabolism
, cilt.28, sa.11-12, ss.1265-1271, 2015 (SCI-Expanded)




93. Primary systemic carnitine deficiency: A Turkish case with a novel homozygous SLC22A5 mutation and 14 years follow-up
Journal of Pediatric Endocrinology and Metabolism
, cilt.28, sa.9-10, ss.1179-1181, 2015 (SCI-Expanded)



94. Testotoxicosis: Report of two cases, one with a novel mutation in LHCGR gene
JCRPE Journal of Clinical Research in Pediatric Endocrinology
, cilt.7, sa.3, ss.242-248, 2015 (SCI-Expanded)




95. A rare cause of fatal pulmonary alveolar proteinosis: Niemann-Pick disease type C2 and a novel mutation
Journal of Pediatric Endocrinology and Metabolism
, cilt.28, sa.9-10, ss.1163-1167, 2015 (SCI-Expanded)



98. Three cases of Wolfram syndrome with different clinical aspects
Journal of Pediatric Endocrinology and Metabolism
, cilt.28, sa.3-4, ss.433-438, 2015 (SCI-Expanded)




105. Unilateral ectrodactyly in a newborn with trisomy 18 syndrome: An unusual association
Journal of the College of Physicians and Surgeons Pakistan
, cilt.25, sa.8, ss.619-620, 2015 (SCI-Expanded)



116. Primary adrenal insufficiency caused by a novel mutation in DAX1 gene
JCRPE Journal of Clinical Research in Pediatric Endocrinology
, cilt.5, sa.1, ss.55-57, 2013 (SCI-Expanded)




125. The earlier described mutation (c.307C> T [p.R103X]) in the SRD5A2 gene causing a 46,XY female phenotype
Journal of Pediatric Endocrinology and Metabolism
, cilt.25, sa.5-6, ss.543-545, 2012 (SCI-Expanded)



127. A new variant of a known mutation in two siblings with permanent neonatal diabetes mellitus
Journal of Pediatric Endocrinology and Metabolism
, cilt.24, sa.5-6, ss.373-375, 2011 (SCI-Expanded)




133. Sporadic nonautoimmune neonatal hyperthyroidism due to A623V germline mutation in the thyrotropin receptor gene
JCRPE Journal of Clinical Research in Pediatric Endocrinology
, cilt.2, sa.4, ss.168-172, 2010 (SCI-Expanded)



139. Genetic abnormalities in Turkish women with premature ovarian failure
International Journal of Gynecology and Obstetrics
, cilt.110, sa.2, ss.122-124, 2010 (SCI-Expanded)



160. Extremely skewed X-chromosome inactivation patterns in women with recurrent spontaneous abortion
Australian and New Zealand Journal of Obstetrics and Gynaecology
, cilt.46, sa.5, ss.384-387, 2006 (SCI-Expanded)




Diğer Dergilerde Yayınlanan Makaleler
19