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Serdar Ceylaner

Showing results (11-20 of 244) with videos related to

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Journal of Pediatric Endocrinology & Metabolism : JPEM|August 11, 2012
The earlier described mutation (c.307c > T [p.R103X]) in the SRD5A2 gene causing a 46,XY female phenotypeEnver Simsek, Cigdem Binay, Serdar Ceylaner
Anadolu Kardiyoloji Dergisi : AKD = the Anatolian Journal of Cardiology|January 3, 2014
A child with L-2 hydroxyglutaric aciduria presenting with dilated cardiomyopathy: coincidence or a new syndrome?Sedat Işıkay, Serdar Ceylaner, Mehmet Karacan
Indian Journal of Pediatrics|March 27, 2021
Antioxidant Therapy in a Patient with Hyperprolinemia Type 1 Presenting with Mild Neuromotor Retardation and Speech DisturbanceMelike Ersoy, Semra Yılmaz, Serdar Ceylaner
Acta Orthopaedica Belgica|October 18, 2007
Proteus syndrome in the aetiology of carpal tunnel syndromeSaliha Senel, Nurullah Okumus, Serdar Ceylaner
Pediatric Neurology|August 2, 2015
Mitochondrial Membrane Protein-Associated NeurodegenerationSanem Yilmaz, Sarenur Gokben, Serdar Ceylaner
The Turkish Journal of Pediatrics|January 30, 2018
An infant with glutaric aciduria type IIc diagnosed with a novel mutationSedat Işıkay, Ayhan Yaman, Serdar Ceylaner
Journal of Pediatric Endocrinology & Metabolism : JPEM|October 18, 2017
Early-onset severe obesity due to complete deletion of the leptin gene in a boyElif Ozsu, Serdar Ceylaner, Huseyin Onay
Journal of Pediatric Endocrinology & Metabolism : JPEM|December 2, 2017
A case of Riley Ruvalcaba syndrome with a novel PTEN mutation accompanied by diffuse testicular microlithiasis and precocious pubertyElif Ozsu, Askın Sen, Serdar Ceylaner
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|April 1, 2026
Prolonged episodic ataxia associated with a SCN2A variant: intrafamilial phenotypic heterogeneity and adult vestibulo-cerebellar presentationHalil Onder, Mehmet Eranil, Serdar Ceylaner
Molecular Syndromology|October 9, 2025
Different Clinic, Different Diagnosis: Tyrosinemia Type 3Hacer Basan, Serdar Ceylaner, Aynur Küçükcongar Yavaş
Pageof 25

Showing results (11-20 of 244) with videos related to

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Pageof 25
Journal of Pediatric Endocrinology & Metabolism : JPEM|August 11, 2012
The earlier described mutation (c.307c > T [p.R103X]) in the SRD5A2 gene causing a 46,XY female phenotypeEnver Simsek, Cigdem Binay, Serdar Ceylaner
Anadolu Kardiyoloji Dergisi : AKD = the Anatolian Journal of Cardiology|January 3, 2014
A child with L-2 hydroxyglutaric aciduria presenting with dilated cardiomyopathy: coincidence or a new syndrome?Sedat Işıkay, Serdar Ceylaner, Mehmet Karacan
Indian Journal of Pediatrics|March 27, 2021
Antioxidant Therapy in a Patient with Hyperprolinemia Type 1 Presenting with Mild Neuromotor Retardation and Speech DisturbanceMelike Ersoy, Semra Yılmaz, Serdar Ceylaner
Acta Orthopaedica Belgica|October 18, 2007
Proteus syndrome in the aetiology of carpal tunnel syndromeSaliha Senel, Nurullah Okumus, Serdar Ceylaner
Pediatric Neurology|August 2, 2015
Mitochondrial Membrane Protein-Associated NeurodegenerationSanem Yilmaz, Sarenur Gokben, Serdar Ceylaner
The Turkish Journal of Pediatrics|January 30, 2018
An infant with glutaric aciduria type IIc diagnosed with a novel mutationSedat Işıkay, Ayhan Yaman, Serdar Ceylaner
Journal of Pediatric Endocrinology & Metabolism : JPEM|October 18, 2017
Early-onset severe obesity due to complete deletion of the leptin gene in a boyElif Ozsu, Serdar Ceylaner, Huseyin Onay
Journal of Pediatric Endocrinology & Metabolism : JPEM|December 2, 2017
A case of Riley Ruvalcaba syndrome with a novel PTEN mutation accompanied by diffuse testicular microlithiasis and precocious pubertyElif Ozsu, Askın Sen, Serdar Ceylaner
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|April 1, 2026
Prolonged episodic ataxia associated with a SCN2A variant: intrafamilial phenotypic heterogeneity and adult vestibulo-cerebellar presentationHalil Onder, Mehmet Eranil, Serdar Ceylaner
Molecular Syndromology|October 9, 2025
Different Clinic, Different Diagnosis: Tyrosinemia Type 3Hacer Basan, Serdar Ceylaner, Aynur Küçükcongar Yavaş
Pageof 25