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Sandeep Jayawant

Showing results (31-40 of 50) with videos related to

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BMJ Open|December 22, 2018
Randomised placebo-controlled trial of combination ACE inhibitor and beta-blocker therapy to prevent cardiomyopathy in children with Duchenne muscular dystrophy? (DMD Heart Protection Study): a protocol studyJohn P Bourke, Gillian Watson, Francesco Muntoni, et al.
American Journal of Human Genetics|November 4, 2017
Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44Lauren M Watson, Elizabeth Bamber, Ricardo Parolin Schnekenberg, et al.
American Journal of Human Genetics|September 9, 2017
Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44Lauren M Watson, Elizabeth Bamber, Ricardo Parolin Schnekenberg, et al.
American Journal of Human Genetics|October 7, 2017
Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44Lauren M Watson, Elizabeth Bamber, Ricardo Parolin Schnekenberg, et al.
Neuromuscular Disorders : NMD|July 9, 2013
DOK7 congenital myasthenic syndrome in childhood: early diagnostic clues in 23 childrenAndrea Klein, Matthew C Pitt, John C McHugh, et al.
Journal of Human Genetics|December 2, 2011
Exome sequencing can detect pathogenic mosaic mutations present at low allele frequenciesAlistair T Pagnamenta, Stefano Lise, Victoria Harrison, et al.
Neurology|April 11, 2023
Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic <i>SLC30A9</i> Pathogenic VariantsDora Batia Dyne Steel, Federica Rachele Danti, Mohamed Abunada, et al.
Muscle & Nerve|January 21, 2016
Muscle magnetic resonance imaging in congenital myasthenic syndromesSarah Finlayson, Jasper M Morrow, Pedro M Rodriguez Cruz, et al.
Neurology|May 11, 2016
The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagyEszter Dombi, Alan Diot, Karl Morten, et al.
American Journal of Human Genetics|December 3, 2015
Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 ChainClare V Logan, Judith Cossins, Pedro M Rodríguez Cruz, et al.
Pageof 5

Showing results (31-40 of 50) with videos related to

Sort By:
Pageof 5
BMJ Open|December 22, 2018
Randomised placebo-controlled trial of combination ACE inhibitor and beta-blocker therapy to prevent cardiomyopathy in children with Duchenne muscular dystrophy? (DMD Heart Protection Study): a protocol studyJohn P Bourke, Gillian Watson, Francesco Muntoni, et al.
American Journal of Human Genetics|November 4, 2017
Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44Lauren M Watson, Elizabeth Bamber, Ricardo Parolin Schnekenberg, et al.
American Journal of Human Genetics|September 9, 2017
Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44Lauren M Watson, Elizabeth Bamber, Ricardo Parolin Schnekenberg, et al.
American Journal of Human Genetics|October 7, 2017
Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44Lauren M Watson, Elizabeth Bamber, Ricardo Parolin Schnekenberg, et al.
Neuromuscular Disorders : NMD|July 9, 2013
DOK7 congenital myasthenic syndrome in childhood: early diagnostic clues in 23 childrenAndrea Klein, Matthew C Pitt, John C McHugh, et al.
Journal of Human Genetics|December 2, 2011
Exome sequencing can detect pathogenic mosaic mutations present at low allele frequenciesAlistair T Pagnamenta, Stefano Lise, Victoria Harrison, et al.
Neurology|April 11, 2023
Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic <i>SLC30A9</i> Pathogenic VariantsDora Batia Dyne Steel, Federica Rachele Danti, Mohamed Abunada, et al.
Muscle & Nerve|January 21, 2016
Muscle magnetic resonance imaging in congenital myasthenic syndromesSarah Finlayson, Jasper M Morrow, Pedro M Rodriguez Cruz, et al.
Neurology|May 11, 2016
The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagyEszter Dombi, Alan Diot, Karl Morten, et al.
American Journal of Human Genetics|December 3, 2015
Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 ChainClare V Logan, Judith Cossins, Pedro M Rodríguez Cruz, et al.
Pageof 5