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Jan Smeitink

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NPJ Genomic Medicine|August 10, 2019

Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern ChineseMullin Ho-Chung Yu, Mandy Ho-Yin Tsang, Sophie Lai, 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.

Brain : a Journal of Neurology|May 27, 2017

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolismRadha Desai, Ann E Frazier, Romina Durigon, et al.

Orphanet Journal of Rare Diseases|March 1, 2023

Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscapeTsz-Sum Wong, Kiran M Belaramani, Chun-Kong Chan, et al.

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Search research articles

Showing results (71-80 of 74) with videos related to

Sort By:

Pageof 8

You have reached the last page of results.This site can display upto 74 results.

NPJ Genomic Medicine|August 10, 2019

Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern ChineseMullin Ho-Chung Yu, Mandy Ho-Yin Tsang, Sophie Lai, 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.

Brain : a Journal of Neurology|May 27, 2017

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolismRadha Desai, Ann E Frazier, Romina Durigon, et al.

Orphanet Journal of Rare Diseases|March 1, 2023

Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscapeTsz-Sum Wong, Kiran M Belaramani, Chun-Kong Chan, et al.

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