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Leigh Waddell

Showing results (1-10 of 8) with videos related to

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Neuromuscular Disorders : NMD|April 7, 2009
Cap disease due to mutation of the beta-tropomyosin gene (TPM2)Nigel F Clarke, Ana Domazetovska, Leigh Waddell, et al.
Molecular Genetics and Metabolism|November 18, 2005
Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlationsLeigh Waddell, Veronica Wiley, Kevin Carpenter, et al.
Neuromuscular Disorders : NMD|June 1, 2014
Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth diseaseManoj P Menezes, Leigh Waddell, Guy M Lenk, et al.
Neuromuscular Disorders : NMD|January 25, 2015
ResponseManoj P Menezes, Leigh Waddell, Guy M Lenk, et al.
European Journal of Human Genetics : EJHG|January 28, 2016
Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related diseaseGina L O'Grady, Alan Ma, Deborah Sival, et al.
Annals of Neurology|May 10, 2016
Diagnosis and etiology of congenital muscular dystrophy: We are halfway thereGina L O'Grady, Monkol Lek, Shireen R Lamande, et al.
Neurology|January 1, 2016
Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathyRoula Ghaoui, Johanna Palmio, Janice Brewer, et al.
Journal of Inherited Metabolic Disease|July 25, 2019
Clinical presentation and proteomic signature of patients with TANGO2 mutationsNadja Mingirulli, Angela Pyle, Denisa Hathazi, et al.
Pageof 1

Showing results (1-10 of 8) with videos related to

Sort By:
Pageof 1
Neuromuscular Disorders : NMD|April 7, 2009
Cap disease due to mutation of the beta-tropomyosin gene (TPM2)Nigel F Clarke, Ana Domazetovska, Leigh Waddell, et al.
Molecular Genetics and Metabolism|November 18, 2005
Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlationsLeigh Waddell, Veronica Wiley, Kevin Carpenter, et al.
Neuromuscular Disorders : NMD|June 1, 2014
Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth diseaseManoj P Menezes, Leigh Waddell, Guy M Lenk, et al.
Neuromuscular Disorders : NMD|January 25, 2015
ResponseManoj P Menezes, Leigh Waddell, Guy M Lenk, et al.
European Journal of Human Genetics : EJHG|January 28, 2016
Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related diseaseGina L O'Grady, Alan Ma, Deborah Sival, et al.
Annals of Neurology|May 10, 2016
Diagnosis and etiology of congenital muscular dystrophy: We are halfway thereGina L O'Grady, Monkol Lek, Shireen R Lamande, et al.
Neurology|January 1, 2016
Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathyRoula Ghaoui, Johanna Palmio, Janice Brewer, et al.
Journal of Inherited Metabolic Disease|July 25, 2019
Clinical presentation and proteomic signature of patients with TANGO2 mutationsNadja Mingirulli, Angela Pyle, Denisa Hathazi, et al.
Pageof 1