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Journal of Pediatric Endocrinology & Metabolism : JPEM
|
April 23, 2024
Identification of a novel homozygous <i>NR5A1</i> variant in a patient with a 46,XY disorders of sex development
Tarık Kırkgöz, Semra Gürsoy, Sezer Acar, et al.
Journal of Clinical Research in Pediatric Endocrinology
|
February 21, 2017
Melanocortin-4 Receptor Gene Mutations in a Group of Turkish Obese Children and Adolescents
Selma Tunç, Korcan Demir, Fatma Ajlan Tükün, et al.
European Journal of Pediatrics
|
December 26, 2024
Clinical features and molecular genetics of patients with RASopathies: expanding the phenotype with rare genes and novel variants
Ceren Yılmaz Uzman, Semra Gürsoy, Behzat Özkan, et al.
Pediatric Neurology
|
February 14, 2025
The Clinical and Molecular Spectrum of Patients With X-Linked Intellectual Disability and Novel Variations in Different Genes
Semra Gürsoy, Ceren Yılmaz Uzman, Kadri Murat Erdoğan, et al.
Sisli Etfal Hastanesi Tip Bulteni
|
May 6, 2022
A Neonatal Case of Infantile Malignant Osteopetrosis Presenting with Thrombocytopenia and Hypotonicity: A Novel Mutation in Chloride Voltage-Gated Channel 7 Gene
Isik Odaman Al, Yesim Oymak, Filiz Hazan, et al.
Turkish Journal of Medical Sciences
|
November 3, 2018
Phenotypic spectrum of CHARGE syndrome based on clinical characteristics
Özge Aksel Kılıçarslan, Esra Ataman, Semra Gürsoy, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
March 17, 2026
A rare case of severe short stature diagnosed after late-onset hypocalcemia: Kenny-Caffey syndrome type 2
Gülşen Özer, İbrahim Mert Erbaş, Durdugül Ayyıldız Emecen, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
May 11, 2026
Genetic evaluation of a group of patients with transient congenital hypothyroidism by targeted exome sequencing
Özge Köprülü, Sezer Acar, Ceren Yılmaz Uzman, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
April 17, 2015
Two different patterns of mini-puberty in two 46,XY newborns with 17β-hydroxysteroid dehydrogenase type 3 deficiency
Korcan Demir, Melek Yıldız, Özlem Nalbantoğlu Elmas, et al.
Frontiers in Genetics
|
July 11, 2022
A Null Mutation of <i>TNFRSF11A</i> Causes Dysosteosclerosis, Not Osteopetrosis
Tarık Kırkgöz, Behzat Özkan, Filiz Hazan, et al.
Page
of 6
Search research articles
Search
Showing results (31-40 of 53) with videos related to
Sort By:
Page
of 6
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
April 23, 2024
Identification of a novel homozygous <i>NR5A1</i> variant in a patient with a 46,XY disorders of sex development
Tarık Kırkgöz, Semra Gürsoy, Sezer Acar, et al.
Journal of Clinical Research in Pediatric Endocrinology
|
February 21, 2017
Melanocortin-4 Receptor Gene Mutations in a Group of Turkish Obese Children and Adolescents
Selma Tunç, Korcan Demir, Fatma Ajlan Tükün, et al.
European Journal of Pediatrics
|
December 26, 2024
Clinical features and molecular genetics of patients with RASopathies: expanding the phenotype with rare genes and novel variants
Ceren Yılmaz Uzman, Semra Gürsoy, Behzat Özkan, et al.
Pediatric Neurology
|
February 14, 2025
The Clinical and Molecular Spectrum of Patients With X-Linked Intellectual Disability and Novel Variations in Different Genes
Semra Gürsoy, Ceren Yılmaz Uzman, Kadri Murat Erdoğan, et al.
Sisli Etfal Hastanesi Tip Bulteni
|
May 6, 2022
A Neonatal Case of Infantile Malignant Osteopetrosis Presenting with Thrombocytopenia and Hypotonicity: A Novel Mutation in Chloride Voltage-Gated Channel 7 Gene
Isik Odaman Al, Yesim Oymak, Filiz Hazan, et al.
Turkish Journal of Medical Sciences
|
November 3, 2018
Phenotypic spectrum of CHARGE syndrome based on clinical characteristics
Özge Aksel Kılıçarslan, Esra Ataman, Semra Gürsoy, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
March 17, 2026
A rare case of severe short stature diagnosed after late-onset hypocalcemia: Kenny-Caffey syndrome type 2
Gülşen Özer, İbrahim Mert Erbaş, Durdugül Ayyıldız Emecen, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
May 11, 2026
Genetic evaluation of a group of patients with transient congenital hypothyroidism by targeted exome sequencing
Özge Köprülü, Sezer Acar, Ceren Yılmaz Uzman, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
April 17, 2015
Two different patterns of mini-puberty in two 46,XY newborns with 17β-hydroxysteroid dehydrogenase type 3 deficiency
Korcan Demir, Melek Yıldız, Özlem Nalbantoğlu Elmas, et al.
Frontiers in Genetics
|
July 11, 2022
A Null Mutation of <i>TNFRSF11A</i> Causes Dysosteosclerosis, Not Osteopetrosis
Tarık Kırkgöz, Behzat Özkan, Filiz Hazan, et al.
Page
of 6