Showing results (11-20 of 38) with videos related to

Sort By:
Pageof 4
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.
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.
Human Molecular Genetics|March 15, 2023
Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disordersFrances J Evesson, Gregory Dziaduch, Samantha J Bryen, et al.
American Journal of Human Genetics|August 27, 2019
Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome AssemblySamantha J Bryen, Himanshu Joshi, Frances J Evesson, et al.
Human Mutation|June 29, 2010
Recessive mutations in RYR1 are a common cause of congenital fiber type disproportionNigel F Clarke, Leigh B Waddell, Sandra T Cooper, et al.
Pageof 4