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Journal of Pediatric and Adolescent Gynecology
|
November 16, 2013
A novel heterozygous mutation in steroidogenic factor-1 in pubertal virilization of a 46,XY female adolescent
Zeynep Sıklar, Merih Berberoğlu, Serdar Ceylaner, et al.
Journal of Clinical Research in Pediatric Endocrinology
|
December 1, 2022
Mitotically Active Follicular Nodule in Early Childhood: A Case Report with a Novel Mutation in the Thyroglobulin Gene
Sirmen Kızılcan Çetin, Zehra Aycan, Zeynep Şıklar, et al.
The Turkish Journal of Pediatrics
|
September 22, 2015
X-linked adrenoleukodystrophy in a 6-year-old boy initially presenting with psychiatric symptoms
Faruk İncecik, M Özlem Hergüner, Gülen Mert, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
January 22, 2018
Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: a report of 203 patients from the southeastern part of Turkey
Berna Seker Yilmaz, Neslihan Onenli Mungan, Deniz Kor, et al.
Children (Basel, Switzerland)
|
March 28, 2026
Exploratory Associations of Targeted Genetic Variants with Cephalometric Airway Parameters in Children with Skeletal Class II Sleep-Disordered Breathing Symptoms
Nazlı Karaca Kurt, Hilal Algul, Serdar Ceylaner, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
May 30, 2015
A rare cause of fatal pulmonary alveolar proteinosis: Niemann-Pick disease type C2 and a novel mutation
Ayhan Yaman, Fatma T Eminoğlu, Tanıl Kendirli, et al.
Journal of Clinical Research in Pediatric Endocrinology
|
June 30, 2016
A Case of Vitamin D-Dependent Rickets Type 1A with a Novel Mutation in the Uzbek Population
Bahar Özcabı, Feride Tahmiscioğlu Bucak, Sevinç Jaferova, et al.
Brain & Development
|
June 23, 2018
Nonketotic hyperglycinemia: Clinical range and outcome of a rare neurometabolic disease in a single-center
Çiğdem Genç Sel, Mustafa Kılıç, Deniz Yüksel, et al.
Molecular Syndromology
|
July 14, 2020
Two Novel Variants and One Previously Reported Variant in the Insulin Receptor Gene in Two Cases with Severe Insulin Resistance Syndrome
Aydilek Dagdeviren Cakir, Said Saidov, Hande Turan, et al.
European Journal of Neurology
|
January 8, 2025
Delineating the genetic landscape of Charcot-Marie-tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants
Arman Cakar, Ayse Candayan, Gulandam Bagırova, et al.
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of 25
Search research articles
Search
Showing results (151-160 of 244) with videos related to
Sort By:
Page
of 25
Journal of Pediatric and Adolescent Gynecology
|
November 16, 2013
A novel heterozygous mutation in steroidogenic factor-1 in pubertal virilization of a 46,XY female adolescent
Zeynep Sıklar, Merih Berberoğlu, Serdar Ceylaner, et al.
Journal of Clinical Research in Pediatric Endocrinology
|
December 1, 2022
Mitotically Active Follicular Nodule in Early Childhood: A Case Report with a Novel Mutation in the Thyroglobulin Gene
Sirmen Kızılcan Çetin, Zehra Aycan, Zeynep Şıklar, et al.
The Turkish Journal of Pediatrics
|
September 22, 2015
X-linked adrenoleukodystrophy in a 6-year-old boy initially presenting with psychiatric symptoms
Faruk İncecik, M Özlem Hergüner, Gülen Mert, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
January 22, 2018
Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: a report of 203 patients from the southeastern part of Turkey
Berna Seker Yilmaz, Neslihan Onenli Mungan, Deniz Kor, et al.
Children (Basel, Switzerland)
|
March 28, 2026
Exploratory Associations of Targeted Genetic Variants with Cephalometric Airway Parameters in Children with Skeletal Class II Sleep-Disordered Breathing Symptoms
Nazlı Karaca Kurt, Hilal Algul, Serdar Ceylaner, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
May 30, 2015
A rare cause of fatal pulmonary alveolar proteinosis: Niemann-Pick disease type C2 and a novel mutation
Ayhan Yaman, Fatma T Eminoğlu, Tanıl Kendirli, et al.
Journal of Clinical Research in Pediatric Endocrinology
|
June 30, 2016
A Case of Vitamin D-Dependent Rickets Type 1A with a Novel Mutation in the Uzbek Population
Bahar Özcabı, Feride Tahmiscioğlu Bucak, Sevinç Jaferova, et al.
Brain & Development
|
June 23, 2018
Nonketotic hyperglycinemia: Clinical range and outcome of a rare neurometabolic disease in a single-center
Çiğdem Genç Sel, Mustafa Kılıç, Deniz Yüksel, et al.
Molecular Syndromology
|
July 14, 2020
Two Novel Variants and One Previously Reported Variant in the Insulin Receptor Gene in Two Cases with Severe Insulin Resistance Syndrome
Aydilek Dagdeviren Cakir, Said Saidov, Hande Turan, et al.
European Journal of Neurology
|
January 8, 2025
Delineating the genetic landscape of Charcot-Marie-tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants
Arman Cakar, Ayse Candayan, Gulandam Bagırova, et al.
Page
of 25