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Ali Dursun

Showing results (81-90 of 88) with videos related to

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Pediatric Research|April 28, 2006
Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiencyStefan Kölker, Sven F Garbade, Cheryl R Greenberg, et al.
Human Mutation|June 20, 2003
Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patientsHong-Zhi Gao, Keiko Kobayashi, Ayako Tabata, et al.
Molecular Genetics and Metabolism|January 15, 2018
The genotypic and phenotypic spectrum of MTO1 deficiencyJames J O'Byrne, Maja Tarailo-Graovac, Aisha Ghani, et al.
Biorxiv : the Preprint Server for Biology|May 10, 2023
A transposase-derived gene required for human brain developmentLuz Jubierre Zapater, Sara A Lewis, Rodrigo Lopez Gutierrez, et al.
Nature Communications|May 30, 2026
COXFA4L2 upregulation preserves residual cytochrome c oxidase activity in COXFA4-related Leigh-like encephalopathyMicol Falabella, Sandra Lopez Calcerrada, Jana Aref, et al.
Science Advances|January 14, 2026
A transposase-derived gene required for human brain developmentLuz Jubierre Zapater, Sara A Lewis, Rodrigo Lopez Gutierrez, et al.
Nature Genetics|April 8, 2015
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunctionNaiara Akizu, Vincent Cantagrel, Maha S Zaki, et al.
Brain : a Journal of Neurology|September 15, 2023
TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptionsHashem Almousa, Sara A Lewis, Somayeh Bakhtiari, et al.
Pageof 9

Showing results (81-90 of 88) with videos related to

Sort By:
Pageof 9
You have reached the last page of results.This site can display upto 88 results.
Pediatric Research|April 28, 2006
Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiencyStefan Kölker, Sven F Garbade, Cheryl R Greenberg, et al.
Human Mutation|June 20, 2003
Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patientsHong-Zhi Gao, Keiko Kobayashi, Ayako Tabata, et al.
Molecular Genetics and Metabolism|January 15, 2018
The genotypic and phenotypic spectrum of MTO1 deficiencyJames J O'Byrne, Maja Tarailo-Graovac, Aisha Ghani, et al.
Biorxiv : the Preprint Server for Biology|May 10, 2023
A transposase-derived gene required for human brain developmentLuz Jubierre Zapater, Sara A Lewis, Rodrigo Lopez Gutierrez, et al.
Nature Communications|May 30, 2026
COXFA4L2 upregulation preserves residual cytochrome c oxidase activity in COXFA4-related Leigh-like encephalopathyMicol Falabella, Sandra Lopez Calcerrada, Jana Aref, et al.
Science Advances|January 14, 2026
A transposase-derived gene required for human brain developmentLuz Jubierre Zapater, Sara A Lewis, Rodrigo Lopez Gutierrez, et al.
Nature Genetics|April 8, 2015
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunctionNaiara Akizu, Vincent Cantagrel, Maha S Zaki, et al.
Brain : a Journal of Neurology|September 15, 2023
TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptionsHashem Almousa, Sara A Lewis, Somayeh Bakhtiari, et al.
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