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Showing results (201-210 of 208) with videos related to

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Neurology. Genetics|April 28, 2020
Mitochondrial diseases in North America: An analysis of the NAMDC RegistryEmanuele Barca, Yuelin Long, Victoria Cooley, et al.
American Journal of Human Genetics|April 26, 2016
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and SeizuresSlavé Petrovski, Sébastien Küry, Candace T Myers, et al.
Medrxiv : the Preprint Server for Health Sciences|June 29, 2026
The clinical utility of functional testing in fibroblasts to diagnose primary mitochondrial diseaseJohan L K Van Hove, Marisa W Friederich, Roxanne A Van Hove, et al.
American Journal of Human Genetics|February 27, 2018
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic DisorderMonika Oláhová, Wan Hee Yoon, Kyle Thompson, et al.
Neurology|January 15, 2026
Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort StudyPiervito Lopriore, Zeynep Ünlütürk, Thomas Klopstock, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2026
RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohortDena R Matalon, Angela L Duker, Taylor M Arriaga, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 15, 2019
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorderGhayda M Mirzaa, Jessica X Chong, Amélie Piton, et al.
American Journal of Human Genetics|November 4, 2017
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual DisabilitySébastien Küry, Geeske M van Woerden, Thomas Besnard, et al.
Pageof 21

Showing results (201-210 of 208) with videos related to

Sort By:
Pageof 21
You have reached the last page of results.This site can display upto 208 results.
Neurology. Genetics|April 28, 2020
Mitochondrial diseases in North America: An analysis of the NAMDC RegistryEmanuele Barca, Yuelin Long, Victoria Cooley, et al.
American Journal of Human Genetics|April 26, 2016
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and SeizuresSlavé Petrovski, Sébastien Küry, Candace T Myers, et al.
Medrxiv : the Preprint Server for Health Sciences|June 29, 2026
The clinical utility of functional testing in fibroblasts to diagnose primary mitochondrial diseaseJohan L K Van Hove, Marisa W Friederich, Roxanne A Van Hove, et al.
American Journal of Human Genetics|February 27, 2018
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic DisorderMonika Oláhová, Wan Hee Yoon, Kyle Thompson, et al.
Neurology|January 15, 2026
Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort StudyPiervito Lopriore, Zeynep Ünlütürk, Thomas Klopstock, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2026
RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohortDena R Matalon, Angela L Duker, Taylor M Arriaga, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 15, 2019
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorderGhayda M Mirzaa, Jessica X Chong, Amélie Piton, et al.
American Journal of Human Genetics|November 4, 2017
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual DisabilitySébastien Küry, Geeske M van Woerden, Thomas Besnard, et al.
Pageof 21