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Steven E Boyden

Showing results (11-20 of 23) with videos related to

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Human Mutation|November 22, 2018
Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward SyndromeRabia Faridi, Risa Tona, Alessandra Brofferio, et al.
Neurogenetics|July 13, 2010
Efficient identification of novel mutations in patients with limb girdle muscular dystrophySteven E Boyden, Mustafa A Salih, Anna R Duncan, et al.
Cold Spring Harbor Molecular Case Studies|November 15, 2022
Rapid genome sequencing identifies a novel de novo <i>SNAP25</i> variant for neonatal congenital myasthenic syndromeHayley M Reynolds, Ting Wen, Andrew Farrell, et al.
Neurogenetics|February 29, 2012
Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicoresSteven E Boyden, Lane J Mahoney, Genri Kawahara, et al.
The New England Journal of Medicine|February 4, 2016
Vibratory Urticaria Associated with a Missense Variant in ADGRE2Steven E Boyden, Avanti Desai, Glenn Cruse, et al.
BMC Medical Genomics|November 14, 2025
RNA sequencing provides functional insights and diagnostic resolution in previously unsolved rare disease casesRobert G Lewis, John M O'Shea, Lucilla Pizzo, et al.
Molecular Genetics & Genomic Medicine|February 4, 2022
Comprehensive variant calling from whole-genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic herniaThomas J Nicholas, Najla Al-Sweel, Andrew Farrell, et al.
Nature Genetics|December 8, 2015
A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiencyHaifa H Jabara, Steven E Boyden, Janet Chou, et al.
Arthritis & Rheumatology (Hoboken, N.J.)|May 8, 2018
Brief Report: Whole-Exome Sequencing to Identify Rare Variants and Gene Networks That Increase Susceptibility to Scleroderma in African AmericansPravitt Gourh, Elaine F Remmers, Steven E Boyden, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 25, 2019
<i>HLA</i> and autoantibodies define scleroderma subtypes and risk in African and European Americans and suggest a role for molecular mimicryPravitt Gourh, Sarah A Safran, Theresa Alexander, et al.
Pageof 3

Showing results (11-20 of 23) with videos related to

Sort By:
Pageof 3
Human Mutation|November 22, 2018
Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward SyndromeRabia Faridi, Risa Tona, Alessandra Brofferio, et al.
Neurogenetics|July 13, 2010
Efficient identification of novel mutations in patients with limb girdle muscular dystrophySteven E Boyden, Mustafa A Salih, Anna R Duncan, et al.
Cold Spring Harbor Molecular Case Studies|November 15, 2022
Rapid genome sequencing identifies a novel de novo <i>SNAP25</i> variant for neonatal congenital myasthenic syndromeHayley M Reynolds, Ting Wen, Andrew Farrell, et al.
Neurogenetics|February 29, 2012
Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicoresSteven E Boyden, Lane J Mahoney, Genri Kawahara, et al.
The New England Journal of Medicine|February 4, 2016
Vibratory Urticaria Associated with a Missense Variant in ADGRE2Steven E Boyden, Avanti Desai, Glenn Cruse, et al.
BMC Medical Genomics|November 14, 2025
RNA sequencing provides functional insights and diagnostic resolution in previously unsolved rare disease casesRobert G Lewis, John M O'Shea, Lucilla Pizzo, et al.
Molecular Genetics & Genomic Medicine|February 4, 2022
Comprehensive variant calling from whole-genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic herniaThomas J Nicholas, Najla Al-Sweel, Andrew Farrell, et al.
Nature Genetics|December 8, 2015
A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiencyHaifa H Jabara, Steven E Boyden, Janet Chou, et al.
Arthritis & Rheumatology (Hoboken, N.J.)|May 8, 2018
Brief Report: Whole-Exome Sequencing to Identify Rare Variants and Gene Networks That Increase Susceptibility to Scleroderma in African AmericansPravitt Gourh, Elaine F Remmers, Steven E Boyden, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 25, 2019
<i>HLA</i> and autoantibodies define scleroderma subtypes and risk in African and European Americans and suggest a role for molecular mimicryPravitt Gourh, Sarah A Safran, Theresa Alexander, et al.
Pageof 3