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Francis M Filloux

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NPJ Genomic Medicine|August 16, 2018

Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathyBetsy E P Ostrander, Russell J Butterfield, Brent S Pedersen, et al.

Nature Genetics|December 11, 2012

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagyThomas Cullup, Ay Lin Kho, Carlo Dionisi-Vici, et al.

Brain : a Journal of Neurology|September 8, 2022

ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsyKari A Mattison, Gilles Tossing, Fred Mulroe, et al.

JAMA Neurology|October 31, 2022

Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical PracticeDianalee McKnight, Ana Morales, Kathryn E Hatchell, et al.

Pageof 3

Search research articles

Showing results (21-30 of 24) with videos related to

Sort By:

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You have reached the last page of results.This site can display upto 24 results.

NPJ Genomic Medicine|August 16, 2018

Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathyBetsy E P Ostrander, Russell J Butterfield, Brent S Pedersen, et al.

Nature Genetics|December 11, 2012

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagyThomas Cullup, Ay Lin Kho, Carlo Dionisi-Vici, et al.

Brain : a Journal of Neurology|September 8, 2022

ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsyKari A Mattison, Gilles Tossing, Fred Mulroe, et al.

JAMA Neurology|October 31, 2022

Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical PracticeDianalee McKnight, Ana Morales, Kathryn E Hatchell, et al.

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