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Showing results (311-320 of 333) with videos related to

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Brain : a Journal of Neurology|February 5, 2013
K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivityNancy Mokbel, Biljana Ilkovski, Michaela Kreissl, et al.
BMC Genomics|January 5, 2018
No association between ACTN3 R577X and ACE I/D polymorphisms and endurance running times in 698 Caucasian athletesIoannis D Papadimitriou, Sarah J Lockey, Sarah Voisin, et al.
Medicine and Science in Sports and Exercise|November 30, 2012
Association analysis of ACE and ACTN3 in elite Caucasian and East Asian swimmersGuan Wang, Eri Mikami, Li-Ling Chiu, et al.
Annals of Clinical and Translational Neurology|December 5, 2019
Reproducibility of cognitive endpoints in clinical trials: lessons from neurofibromatosis type 1Jonathan M Payne, Stephen J C Hearps, Karin S Walsh, et al.
American Journal of Human Genetics|May 14, 2013
Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegiaEmily C Oates, Alexander M Rossor, Majid Hafezparast, et al.
Brain : a Journal of Neurology|June 12, 2015
Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophyAlexander M Rossor, Emily C Oates, Hannah K Salter, et al.
Brain : a Journal of Neurology|December 16, 2014
Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2Alexander M Rossor, Emily C Oates, Hannah K Salter, et al.
BMC Genomics|April 15, 2016
ACTN3 R577X and ACE I/D gene variants influence performance in elite sprinters: a multi-cohort studyIoannis D Papadimitriou, Alejandro Lucia, Yannis P Pitsiladis, et al.
American Journal of Human Genetics|November 26, 2013
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline MyopathyVandana A Gupta, Gianina Ravenscroft, Ranad Shaheen, et al.
Neurology|December 14, 2016
Randomized placebo-controlled study of lovastatin in children with neurofibromatosis type 1Jonathan M Payne, Belinda Barton, Nicole J Ullrich, et al.
Pageof 34

Showing results (311-320 of 333) with videos related to

Sort By:
Pageof 34
Brain : a Journal of Neurology|February 5, 2013
K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivityNancy Mokbel, Biljana Ilkovski, Michaela Kreissl, et al.
BMC Genomics|January 5, 2018
No association between ACTN3 R577X and ACE I/D polymorphisms and endurance running times in 698 Caucasian athletesIoannis D Papadimitriou, Sarah J Lockey, Sarah Voisin, et al.
Medicine and Science in Sports and Exercise|November 30, 2012
Association analysis of ACE and ACTN3 in elite Caucasian and East Asian swimmersGuan Wang, Eri Mikami, Li-Ling Chiu, et al.
Annals of Clinical and Translational Neurology|December 5, 2019
Reproducibility of cognitive endpoints in clinical trials: lessons from neurofibromatosis type 1Jonathan M Payne, Stephen J C Hearps, Karin S Walsh, et al.
American Journal of Human Genetics|May 14, 2013
Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegiaEmily C Oates, Alexander M Rossor, Majid Hafezparast, et al.
Brain : a Journal of Neurology|June 12, 2015
Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophyAlexander M Rossor, Emily C Oates, Hannah K Salter, et al.
Brain : a Journal of Neurology|December 16, 2014
Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2Alexander M Rossor, Emily C Oates, Hannah K Salter, et al.
BMC Genomics|April 15, 2016
ACTN3 R577X and ACE I/D gene variants influence performance in elite sprinters: a multi-cohort studyIoannis D Papadimitriou, Alejandro Lucia, Yannis P Pitsiladis, et al.
American Journal of Human Genetics|November 26, 2013
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline MyopathyVandana A Gupta, Gianina Ravenscroft, Ranad Shaheen, et al.
Neurology|December 14, 2016
Randomized placebo-controlled study of lovastatin in children with neurofibromatosis type 1Jonathan M Payne, Belinda Barton, Nicole J Ullrich, et al.
Pageof 34