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Edward Blair

Showing results (21-30 of 67) with videos related to

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European Journal of Human Genetics : EJHG|March 23, 2017
Insights from early experience of a Rare Disease Genomic Medicine Multidisciplinary Team: a qualitative studyElizabeth Ormondroyd, Michael P Mackley, Edward Blair, et al.
Circulation Research|February 28, 2002
Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathyEdward Blair, Charles Redwood, Marisa de Jesus Oliveira, et al.
Genomic Medicine|October 17, 2008
Diagnosing idiopathic learning disability: a cost-effectiveness analysis of microarray technology in the National Health Service of the United KingdomSarah Wordsworth, James Buchanan, Regina Regan, et al.
Circulation Research|July 11, 2009
Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathySebastian Carballo, Paul Robinson, Robyn Otway, et al.
Journal of the American College of Cardiology|May 28, 2003
Hypertrophic cardiomyopathy due to sarcomeric gene mutations is characterized by impaired energy metabolism irrespective of the degree of hypertrophyJenifer G Crilley, Ernest A Boehm, Edward Blair, et al.
Cell Reports|December 9, 2014
Human slack potassium channel mutations increase positive cooperativity between individual channelsGrace E Kim, Jack Kronengold, Giulia Barcia, et al.
Human Reproduction (Oxford, England)|December 17, 2008
Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologiesDerek Lim, Sarah C Bowdin, Louise Tee, et al.
Human Mutation|February 11, 2011
New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutationsBert Callewaert, Marjolijn Renard, Vishwanathan Hucthagowder, et al.
Clinical Immunology (Orlando, Fla.)|December 19, 2015
Hypomorphic function and somatic reversion of DOCK8 cause combined immunodeficiency without hyper-IgEAnne-Kathrin Kienzler, Pauline A van Schouwenburg, John Taylor, et al.
Human Molecular Genetics|November 29, 2011
A meckelin-filamin A interaction mediates ciliogenesisMatthew Adams, Roslyn J Simms, Zakia Abdelhamed, et al.
Pageof 7

Showing results (21-30 of 67) with videos related to

Sort By:
Pageof 7
European Journal of Human Genetics : EJHG|March 23, 2017
Insights from early experience of a Rare Disease Genomic Medicine Multidisciplinary Team: a qualitative studyElizabeth Ormondroyd, Michael P Mackley, Edward Blair, et al.
Circulation Research|February 28, 2002
Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathyEdward Blair, Charles Redwood, Marisa de Jesus Oliveira, et al.
Genomic Medicine|October 17, 2008
Diagnosing idiopathic learning disability: a cost-effectiveness analysis of microarray technology in the National Health Service of the United KingdomSarah Wordsworth, James Buchanan, Regina Regan, et al.
Circulation Research|July 11, 2009
Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathySebastian Carballo, Paul Robinson, Robyn Otway, et al.
Journal of the American College of Cardiology|May 28, 2003
Hypertrophic cardiomyopathy due to sarcomeric gene mutations is characterized by impaired energy metabolism irrespective of the degree of hypertrophyJenifer G Crilley, Ernest A Boehm, Edward Blair, et al.
Cell Reports|December 9, 2014
Human slack potassium channel mutations increase positive cooperativity between individual channelsGrace E Kim, Jack Kronengold, Giulia Barcia, et al.
Human Reproduction (Oxford, England)|December 17, 2008
Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologiesDerek Lim, Sarah C Bowdin, Louise Tee, et al.
Human Mutation|February 11, 2011
New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutationsBert Callewaert, Marjolijn Renard, Vishwanathan Hucthagowder, et al.
Clinical Immunology (Orlando, Fla.)|December 19, 2015
Hypomorphic function and somatic reversion of DOCK8 cause combined immunodeficiency without hyper-IgEAnne-Kathrin Kienzler, Pauline A van Schouwenburg, John Taylor, et al.
Human Molecular Genetics|November 29, 2011
A meckelin-filamin A interaction mediates ciliogenesisMatthew Adams, Roslyn J Simms, Zakia Abdelhamed, et al.
Pageof 7