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Serdar Ceylaner

Showing results (1-10 of 244) with videos related to

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Journal of Clinical Research in Pediatric Endocrinology|August 4, 2018
A Novel Homozygous <i>CYP19A1</i> Gene Mutation: Aromatase Deficiency Mimicking Congenital Adrenal Hyperplasia in an Infant without Obvious Maternal VirilisationFatma Dursun, Serdar Ceylaner
Endocrine, Metabolic & Immune Disorders Drug Targets|July 10, 2020
Genetic Management Algorithm in High-Risk Fabry Disease Cases; Especially in Female Indexes with MutationsOzlem Sezer, Serdar Ceylaner
Acta Neurologica Belgica|November 24, 2019
Early-onset progressive encephalopathy associated with NAXE gene variants: a case report of a Turkish childFaruk Incecık, Serdar Ceylaner
Taiwanese Journal of Obstetrics & Gynecology|September 4, 2016
Rodriguez lethal acrofacial dysostosis syndrome with ambiguous genitaliaUlku Mete Ural, Serdar Ceylaner
Neuropediatrics|November 16, 2018
A Very Rare Etiology of Hypotonia and Seizures: Congenital Glutamine Synthetase DeficiencyÖzlem Ünal, Serdar Ceylaner, Rıdvan Akın
Journal of Human Genetics|May 18, 2026
Further delineation of the phenotype and genotype in a newly identified PAN2-related disorderErdem Kındış, Elif Eviz, Serdar Ceylaner
Journal of Pediatric and Adolescent Gynecology|February 10, 2026
From Primary Amenorrhea to the Desert Hedgehog (DHH) Gene: Novel Homozygous Variant in 46,XY Gonadal DysgenesisDuygu Deligözoğlu, Serdar Ceylaner, Fatih Gürbüz
Clinical Dysmorphology|January 3, 2019
Novel mutation in MASP1 gene in a new family with 3MC syndromeMuserref Basdemirci, Askin Sen, Serdar Ceylaner
Journal of Pediatric Orthopedics. Part B|September 1, 2007
Is it a Proteus syndrome?Saliha Senel, Emrah Senel, Serdar Ceylaner
Journal of Pediatric Genetics|October 21, 2022
A Case of Congenital Glucose Galactose Malabsorption with a New Mutation in the <i>SLC5A1</i> GeneHasan Akduman, Dilek Dilli, Serdar Ceylaner
Pageof 25

Showing results (1-10 of 244) with videos related to

Sort By:
Pageof 25
Journal of Clinical Research in Pediatric Endocrinology|August 4, 2018
A Novel Homozygous <i>CYP19A1</i> Gene Mutation: Aromatase Deficiency Mimicking Congenital Adrenal Hyperplasia in an Infant without Obvious Maternal VirilisationFatma Dursun, Serdar Ceylaner
Endocrine, Metabolic & Immune Disorders Drug Targets|July 10, 2020
Genetic Management Algorithm in High-Risk Fabry Disease Cases; Especially in Female Indexes with MutationsOzlem Sezer, Serdar Ceylaner
Acta Neurologica Belgica|November 24, 2019
Early-onset progressive encephalopathy associated with NAXE gene variants: a case report of a Turkish childFaruk Incecık, Serdar Ceylaner
Taiwanese Journal of Obstetrics & Gynecology|September 4, 2016
Rodriguez lethal acrofacial dysostosis syndrome with ambiguous genitaliaUlku Mete Ural, Serdar Ceylaner
Neuropediatrics|November 16, 2018
A Very Rare Etiology of Hypotonia and Seizures: Congenital Glutamine Synthetase DeficiencyÖzlem Ünal, Serdar Ceylaner, Rıdvan Akın
Journal of Human Genetics|May 18, 2026
Further delineation of the phenotype and genotype in a newly identified PAN2-related disorderErdem Kındış, Elif Eviz, Serdar Ceylaner
Journal of Pediatric and Adolescent Gynecology|February 10, 2026
From Primary Amenorrhea to the Desert Hedgehog (DHH) Gene: Novel Homozygous Variant in 46,XY Gonadal DysgenesisDuygu Deligözoğlu, Serdar Ceylaner, Fatih Gürbüz
Clinical Dysmorphology|January 3, 2019
Novel mutation in MASP1 gene in a new family with 3MC syndromeMuserref Basdemirci, Askin Sen, Serdar Ceylaner
Journal of Pediatric Orthopedics. Part B|September 1, 2007
Is it a Proteus syndrome?Saliha Senel, Emrah Senel, Serdar Ceylaner
Journal of Pediatric Genetics|October 21, 2022
A Case of Congenital Glucose Galactose Malabsorption with a New Mutation in the <i>SLC5A1</i> GeneHasan Akduman, Dilek Dilli, Serdar Ceylaner
Pageof 25