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Kevin T A Booth

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Brain : a Journal of Neurology|February 7, 2025

De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndromeKevin T A Booth, Sharayu V Jangam, Martin M C Chui, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 23, 2025

ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over timeKezang C Tshering, Marina T DiStefano, Andrea M Oza, et al.

Medrxiv : the Preprint Server for Health Sciences|July 17, 2025

Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disordersSara M Fielder, Marisa W Friederich, Daniella H Hock, et al.

EMBO Molecular Medicine|August 26, 2025

Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disordersSara M Fielder, Marisa W Friederich, Daniella H Hock, et al.

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Search research articles

Showing results (11-20 of 14) with videos related to

Sort By:

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You have reached the last page of results.This site can display upto 14 results.

Brain : a Journal of Neurology|February 7, 2025

De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndromeKevin T A Booth, Sharayu V Jangam, Martin M C Chui, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 23, 2025

ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over timeKezang C Tshering, Marina T DiStefano, Andrea M Oza, et al.

Medrxiv : the Preprint Server for Health Sciences|July 17, 2025

Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disordersSara M Fielder, Marisa W Friederich, Daniella H Hock, et al.

EMBO Molecular Medicine|August 26, 2025

Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disordersSara M Fielder, Marisa W Friederich, Daniella H Hock, et al.

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