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JIMD Reports
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October 22, 2013
Pregnancy and lactation outcomes in a Turkish patient with lysinuric protein intolerance
Ozlem Unal, Turgay Coşkun, Diclehan Orhan, et al.
Postgraduate Medicine
|
December 18, 2024
High prevalence of low bone mineral density in young adults with phenylketonuria
Kısmet Çıkı, Ayça Burcu Kahraman, Halil Tuna Akar, et al.
Pediatric Neurology
|
February 23, 2012
Identification of a novel Twinkle mutation in a family with infantile onset spinocerebellar ataxia by whole exome sequencing
Halil Dündar, Rıza Köksal Ozgül, Dilek Yalnızoğlu, et al.
Pediatric Neurology
|
July 24, 2019
Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency
Yılmaz Yıldız, Beril Talim, Goknur Haliloglu, et al.
Metabolic Brain Disease
|
May 20, 2021
DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant
Kısmet Çıkı, Yılmaz Yıldız, Didem Yücel Yılmaz, et al.
Journal of Child Neurology
|
September 21, 2012
Vanishing White Matter With Hepatomegaly and Hypertriglyceridemia Attacks
Ozlem Unal, Burce Ozgen, Diclehan Orhan, et al.
Turkish Journal of Medical Sciences
|
August 12, 2016
Evaluation and identification of IDUA gene mutations in Turkishpatients with mucopolysaccharidosis type I
Nazente Atçeken, Rıza Köksal Özgül, Didem Yücel Yilmaz, et al.
The Turkish Journal of Pediatrics
|
June 2, 2009
Molecular genetics of maple syrup urine disease in the Turkish population
Kerstin Gorzelany, Ali Dursun, Turgay Coşkun, et al.
The Turkish Journal of Pediatrics
|
March 1, 2014
Cobalamin C defect: a patient of late-onset type with homozygous p.R132* mutation
Mustafa Kılıç, Rıza Köksal Özgül, Ali Dursun, et al.
Metabolic Brain Disease
|
June 9, 2021
Correction to: DNAJC12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant
Kısmet Çıkı, Yılmaz Yıldız, Didem Yücel Yılmaz, et al.
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of 9
Search research articles
Search
Showing results (31-40 of 88) with videos related to
Sort By:
Page
of 9
JIMD Reports
|
October 22, 2013
Pregnancy and lactation outcomes in a Turkish patient with lysinuric protein intolerance
Ozlem Unal, Turgay Coşkun, Diclehan Orhan, et al.
Postgraduate Medicine
|
December 18, 2024
High prevalence of low bone mineral density in young adults with phenylketonuria
Kısmet Çıkı, Ayça Burcu Kahraman, Halil Tuna Akar, et al.
Pediatric Neurology
|
February 23, 2012
Identification of a novel Twinkle mutation in a family with infantile onset spinocerebellar ataxia by whole exome sequencing
Halil Dündar, Rıza Köksal Ozgül, Dilek Yalnızoğlu, et al.
Pediatric Neurology
|
July 24, 2019
Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency
Yılmaz Yıldız, Beril Talim, Goknur Haliloglu, et al.
Metabolic Brain Disease
|
May 20, 2021
DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant
Kısmet Çıkı, Yılmaz Yıldız, Didem Yücel Yılmaz, et al.
Journal of Child Neurology
|
September 21, 2012
Vanishing White Matter With Hepatomegaly and Hypertriglyceridemia Attacks
Ozlem Unal, Burce Ozgen, Diclehan Orhan, et al.
Turkish Journal of Medical Sciences
|
August 12, 2016
Evaluation and identification of IDUA gene mutations in Turkishpatients with mucopolysaccharidosis type I
Nazente Atçeken, Rıza Köksal Özgül, Didem Yücel Yilmaz, et al.
The Turkish Journal of Pediatrics
|
June 2, 2009
Molecular genetics of maple syrup urine disease in the Turkish population
Kerstin Gorzelany, Ali Dursun, Turgay Coşkun, et al.
The Turkish Journal of Pediatrics
|
March 1, 2014
Cobalamin C defect: a patient of late-onset type with homozygous p.R132* mutation
Mustafa Kılıç, Rıza Köksal Özgül, Ali Dursun, et al.
Metabolic Brain Disease
|
June 9, 2021
Correction to: DNAJC12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant
Kısmet Çıkı, Yılmaz Yıldız, Didem Yücel Yılmaz, et al.
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of 9