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B Waddell

Showing results (31-40 of 65) with videos related to

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Antimicrobial Agents and Chemotherapy|November 15, 2023
Epidemiology and impact of methicillin-sensitive <i>Staphylococcus aureus</i> with β-lactam antibiotic inoculum effects in adults with cystic fibrosisJ Svishchuk, K Ebbert, B Waddell, et al.
European Journal of Human Genetics : EJHG|November 7, 2013
Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutationsHoma Tajsharghi, Simon Hammans, Christopher Lindberg, et al.
Clinical Genetics|February 17, 2023
Compound heterozygous splicing variants expand the genotypic spectrum of EMC1-related disordersSamantha J Bryen, Katharine Zhang, Gregory Dziaduch, et al.
Neuromuscular Disorders : NMD|March 13, 2013
A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathiesNigel F Clarke, Kimberly Amburgey, James Teener, et al.
Genetic Testing and Molecular Biomarkers|September 30, 2010
GATA4 mutations in 357 unrelated patients with congenital heart malformationTanya L Butler, Giorgia Esposito, Gillian M Blue, et al.
Neurology|April 12, 2012
Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophyM P Menezes, L B Waddell, F J Evesson, et al.
European Journal of Human Genetics : EJHG|April 27, 2019
Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desminLisa G Riley, Leigh B Waddell, Roula Ghaoui, et al.
HGG Advances|July 18, 2022
Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zoneSamantha J Bryen, Michaela Yuen, Himanshu Joshi, et al.
European Journal of Human Genetics : EJHG|August 31, 2020
Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathySamantha J Bryen, Emily C Oates, Frances J Evesson, et al.
Neuromuscular Disorders : NMD|November 11, 2019
Importance of muscle biopsy to establish pathogenicity of DMD missense and splice variantsHannah F Jones, Samantha J Bryen, Leigh B Waddell, et al.
Pageof 7

Showing results (31-40 of 65) with videos related to

Sort By:
Pageof 7
Antimicrobial Agents and Chemotherapy|November 15, 2023
Epidemiology and impact of methicillin-sensitive <i>Staphylococcus aureus</i> with β-lactam antibiotic inoculum effects in adults with cystic fibrosisJ Svishchuk, K Ebbert, B Waddell, et al.
European Journal of Human Genetics : EJHG|November 7, 2013
Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutationsHoma Tajsharghi, Simon Hammans, Christopher Lindberg, et al.
Clinical Genetics|February 17, 2023
Compound heterozygous splicing variants expand the genotypic spectrum of EMC1-related disordersSamantha J Bryen, Katharine Zhang, Gregory Dziaduch, et al.
Neuromuscular Disorders : NMD|March 13, 2013
A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathiesNigel F Clarke, Kimberly Amburgey, James Teener, et al.
Genetic Testing and Molecular Biomarkers|September 30, 2010
GATA4 mutations in 357 unrelated patients with congenital heart malformationTanya L Butler, Giorgia Esposito, Gillian M Blue, et al.
Neurology|April 12, 2012
Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophyM P Menezes, L B Waddell, F J Evesson, et al.
European Journal of Human Genetics : EJHG|April 27, 2019
Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desminLisa G Riley, Leigh B Waddell, Roula Ghaoui, et al.
HGG Advances|July 18, 2022
Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zoneSamantha J Bryen, Michaela Yuen, Himanshu Joshi, et al.
European Journal of Human Genetics : EJHG|August 31, 2020
Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathySamantha J Bryen, Emily C Oates, Frances J Evesson, et al.
Neuromuscular Disorders : NMD|November 11, 2019
Importance of muscle biopsy to establish pathogenicity of DMD missense and splice variantsHannah F Jones, Samantha J Bryen, Leigh B Waddell, et al.
Pageof 7