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Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

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J S Parboosingh

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Clinical Genetics|July 22, 2014

Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective studyD A Dyment, M Tétreault, C L Beaulieu, et al.

Clinical Genetics|July 15, 2017

Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 familiesT Hartley, J D Wagner, J Warman-Chardon, et al.

Clinical Genetics|February 8, 2017

Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencingT B Balci, T Hartley, Y Xi, et al.

Acta Neuropathologica|August 30, 2019

MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvementS Donkervoort, R Sabouny, P Yun, et al.

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Search research articles

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

Sort By:

Pageof 2

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

Clinical Genetics|July 22, 2014

Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective studyD A Dyment, M Tétreault, C L Beaulieu, et al.

Clinical Genetics|July 15, 2017

Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 familiesT Hartley, J D Wagner, J Warman-Chardon, et al.

Clinical Genetics|February 8, 2017

Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencingT B Balci, T Hartley, Y Xi, et al.

Acta Neuropathologica|August 30, 2019

MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvementS Donkervoort, R Sabouny, P Yun, et al.

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