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Clinical Case Reports
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August 8, 2017
A novel frameshift mutation of malonyl-CoA decarboxylase deficiency: clinical signs and therapy response of a late-diagnosed case
Melike Ersoy, Mehmet Bedir Akyol, Serdar Ceylaner, et al.
Clinical Dysmorphology
|
June 27, 2018
A rare mutation in the EPG5 gene causes Vici syndrome
Emine Demiral, Askin Sen, Zeynep Esener, et al.
The Turkish Journal of Pediatrics
|
December 25, 2015
Turkish cases of early infantile epileptic encephalopathy: two novel mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene
Sarenur Gökben, Gül Serdaroğlu, Sanem Yılmaz, et al.
Movement Disorders Clinical Practice
|
October 5, 2020
Aceruloplasminemia Presenting with Asymmetric Chorea Due to a Novel Frameshift Mutation
Sabiha T Aydemir, Onur Bulut, Serdar Ceylaner, et al.
Acta Neurologica Belgica
|
October 8, 2020
Rare slow channel congenital myasthenic syndromes without repetitive compound muscle action potential and dramatic response to low dose fluoxetine
Hacer Durmus, Heinrich Sticht, Serdar Ceylaner, et al.
Acta Neurologica Belgica
|
September 20, 2023
Clinical and laboratory findings and etiologies of genetic homocystinemia: a single-center experience
Seyda Besen, Yasemin Ozkale, Serdar Ceylaner, et al.
Human Reproduction (Oxford, England)
|
August 19, 2003
Empty follicle syndrome in two sisters with three cycles: case report
Gögsen Onalan, Recai Pabuçcu, Reside Onalan, et al.
The Turkish Journal of Pediatrics
|
January 18, 2020
Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosis
Aydan Değerliyurt, Mehmet Gündüz, Serdar Ceylaner, et al.
Journal of Pediatric Genetics
|
August 15, 2018
A Case of Shwachman-Diamond Syndrome who Presented with Hypotonia
Zeren Barış, Figen Özçay, Lale Olcay, et al.
European Journal of Pediatrics
|
May 24, 2014
Reversible pulmonary arterial hypertension in cobalamin-dependent cobalamin C disease due to a novel mutation in the MMACHC gene
Mehmet Gündüz, Filiz Ekici, Eda Özaydın, et al.
Page
of 25
Search research articles
Search
Showing results (61-70 of 244) with videos related to
Sort By:
Page
of 25
Clinical Case Reports
|
August 8, 2017
A novel frameshift mutation of malonyl-CoA decarboxylase deficiency: clinical signs and therapy response of a late-diagnosed case
Melike Ersoy, Mehmet Bedir Akyol, Serdar Ceylaner, et al.
Clinical Dysmorphology
|
June 27, 2018
A rare mutation in the EPG5 gene causes Vici syndrome
Emine Demiral, Askin Sen, Zeynep Esener, et al.
The Turkish Journal of Pediatrics
|
December 25, 2015
Turkish cases of early infantile epileptic encephalopathy: two novel mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene
Sarenur Gökben, Gül Serdaroğlu, Sanem Yılmaz, et al.
Movement Disorders Clinical Practice
|
October 5, 2020
Aceruloplasminemia Presenting with Asymmetric Chorea Due to a Novel Frameshift Mutation
Sabiha T Aydemir, Onur Bulut, Serdar Ceylaner, et al.
Acta Neurologica Belgica
|
October 8, 2020
Rare slow channel congenital myasthenic syndromes without repetitive compound muscle action potential and dramatic response to low dose fluoxetine
Hacer Durmus, Heinrich Sticht, Serdar Ceylaner, et al.
Acta Neurologica Belgica
|
September 20, 2023
Clinical and laboratory findings and etiologies of genetic homocystinemia: a single-center experience
Seyda Besen, Yasemin Ozkale, Serdar Ceylaner, et al.
Human Reproduction (Oxford, England)
|
August 19, 2003
Empty follicle syndrome in two sisters with three cycles: case report
Gögsen Onalan, Recai Pabuçcu, Reside Onalan, et al.
The Turkish Journal of Pediatrics
|
January 18, 2020
Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosis
Aydan Değerliyurt, Mehmet Gündüz, Serdar Ceylaner, et al.
Journal of Pediatric Genetics
|
August 15, 2018
A Case of Shwachman-Diamond Syndrome who Presented with Hypotonia
Zeren Barış, Figen Özçay, Lale Olcay, et al.
European Journal of Pediatrics
|
May 24, 2014
Reversible pulmonary arterial hypertension in cobalamin-dependent cobalamin C disease due to a novel mutation in the MMACHC gene
Mehmet Gündüz, Filiz Ekici, Eda Özaydın, et al.
Page
of 25