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B Waddell

Showing results (41-50 of 65) with videos related to

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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.
Annals of Epidemiology|April 30, 2024
Trends in RSV testing patterns among infants presenting with bronchiolitis: Results from four United States health systems, 2015-2023Adam Z Blatt, Mina Suh, Emmanuel B Walter, et al.
Influenza and Other Respiratory Viruses|May 16, 2024
Geographic Progression of Infant Respiratory Syncytial Virus Associated Bronchiolitis Across the United States Before and Since the Onset of COVID-19: Results From Four Health Systems, 2015-2023Adam Z Blatt, Mina Suh, Emmanuel B Walter, 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.
Journal of Neuropathology and Experimental Neurology|March 18, 2011
Dysferlin, annexin A1, and mitsugumin 53 are upregulated in muscular dystrophy and localize to longitudinal tubules of the T-system with stretchLeigh B Waddell, Frances A Lemckert, Xi F Zheng, et al.
Brain : a Journal of Neurology|February 15, 2015
Expanding the phenotype of GMPPB mutationsMacarena Cabrera-Serrano, Roula Ghaoui, Gianina Ravenscroft, et al.
JAMA Neurology|October 6, 2015
Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons LearnedRoula Ghaoui, Sandra T Cooper, Monkol Lek, et al.
Human Mutation|December 22, 2017
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variantSarah A Sandaradura, Adam Bournazos, Amali Mallawaarachchi, et al.
American Journal of Human Genetics|August 2, 2007
Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathyEdwin P Kirk, Margaret Sunde, Mauro W Costa, et al.
Pageof 7

Showing results (41-50 of 65) with videos related to

Sort By:
Pageof 7
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.
Annals of Epidemiology|April 30, 2024
Trends in RSV testing patterns among infants presenting with bronchiolitis: Results from four United States health systems, 2015-2023Adam Z Blatt, Mina Suh, Emmanuel B Walter, et al.
Influenza and Other Respiratory Viruses|May 16, 2024
Geographic Progression of Infant Respiratory Syncytial Virus Associated Bronchiolitis Across the United States Before and Since the Onset of COVID-19: Results From Four Health Systems, 2015-2023Adam Z Blatt, Mina Suh, Emmanuel B Walter, 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.
Journal of Neuropathology and Experimental Neurology|March 18, 2011
Dysferlin, annexin A1, and mitsugumin 53 are upregulated in muscular dystrophy and localize to longitudinal tubules of the T-system with stretchLeigh B Waddell, Frances A Lemckert, Xi F Zheng, et al.
Brain : a Journal of Neurology|February 15, 2015
Expanding the phenotype of GMPPB mutationsMacarena Cabrera-Serrano, Roula Ghaoui, Gianina Ravenscroft, et al.
JAMA Neurology|October 6, 2015
Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons LearnedRoula Ghaoui, Sandra T Cooper, Monkol Lek, et al.
Human Mutation|December 22, 2017
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variantSarah A Sandaradura, Adam Bournazos, Amali Mallawaarachchi, et al.
American Journal of Human Genetics|August 2, 2007
Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathyEdwin P Kirk, Margaret Sunde, Mauro W Costa, et al.
Pageof 7