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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 phenotype
Enver 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 Disturbance
Melike Ersoy, Semra Yılmaz, Serdar Ceylaner
Acta Orthopaedica Belgica
|
October 18, 2007
Proteus syndrome in the aetiology of carpal tunnel syndrome
Saliha Senel, Nurullah Okumus, Serdar Ceylaner
Pediatric Neurology
|
August 2, 2015
Mitochondrial Membrane Protein-Associated Neurodegeneration
Sanem Yilmaz, Sarenur Gokben, Serdar Ceylaner
The Turkish Journal of Pediatrics
|
January 30, 2018
An infant with glutaric aciduria type IIc diagnosed with a novel mutation
Sedat 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 boy
Elif 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 puberty
Elif 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 presentation
Halil Onder, Mehmet Eranil, Serdar Ceylaner
Molecular Syndromology
|
October 9, 2025
Different Clinic, Different Diagnosis: Tyrosinemia Type 3
Hacer Basan, Serdar Ceylaner, Aynur Küçükcongar Yavaş
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Search research articles
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Showing results (11-20 of 244) with videos related to
Sort By:
Page
of 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 phenotype
Enver 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 Disturbance
Melike Ersoy, Semra Yılmaz, Serdar Ceylaner
Acta Orthopaedica Belgica
|
October 18, 2007
Proteus syndrome in the aetiology of carpal tunnel syndrome
Saliha Senel, Nurullah Okumus, Serdar Ceylaner
Pediatric Neurology
|
August 2, 2015
Mitochondrial Membrane Protein-Associated Neurodegeneration
Sanem Yilmaz, Sarenur Gokben, Serdar Ceylaner
The Turkish Journal of Pediatrics
|
January 30, 2018
An infant with glutaric aciduria type IIc diagnosed with a novel mutation
Sedat 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 boy
Elif 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 puberty
Elif 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 presentation
Halil Onder, Mehmet Eranil, Serdar Ceylaner
Molecular Syndromology
|
October 9, 2025
Different Clinic, Different Diagnosis: Tyrosinemia Type 3
Hacer Basan, Serdar Ceylaner, Aynur Küçükcongar Yavaş
Page
of 25