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Edward Blair

Showing results (31-40 of 67) with videos related to

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The Journal of Clinical Investigation|February 24, 2015
Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cyclingKate Baker, Sarah L Gordon, Detelina Grozeva, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 13, 2019
Null variants and deletions in BRWD3 cause an X-linked syndrome of mild-moderate intellectual disability, macrocephaly, and obesity: A series of 17 patientsPhilip J Ostrowski, Anna Zachariou, Chey Loveday, et al.
BMC Medical Genetics|January 13, 2006
Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytomaJean-Pierre Bayley, Ivonne van Minderhout, Marjan M Weiss, et al.
European Journal of Human Genetics : EJHG|November 29, 2012
Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosisSalima El Chehadeh-Djebbar, Edward Blair, Muriel Holder-Espinasse, et al.
Journal of Medical Genetics|April 19, 2012
Mutations in GRIP1 cause Fraser syndromeMaartje J Vogel, Patrick van Zon, Louise Brueton, et al.
Human Molecular Genetics|September 12, 2015
Insulin response dysregulation explains abnormal fat storage and increased risk of diabetes mellitus type 2 in Cohen SyndromeFloriane Limoge, Laurence Faivre, Thomas Gautier, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 18, 2016
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samplesRoddy Walsh, Kate L Thomson, James S Ware, et al.
Genome Medicine|July 27, 2019
Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case seriesJohn Taylor, Jude Craft, Edward Blair, et al.
Clinical Genetics|October 3, 2020
Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorderNina B Gold, Dong Li, Anna Chassevent, et al.
Circulation. Genomic and Precision Medicine|March 13, 2020
Reevaluation of the South Asian <i>MYBPC3</i><sup>Δ25bp</sup> Intronic Deletion in Hypertrophic CardiomyopathyAndrew R Harper, Michael Bowman, Jesse B G Hayesmoore, et al.
Pageof 7

Showing results (31-40 of 67) with videos related to

Sort By:
Pageof 7
The Journal of Clinical Investigation|February 24, 2015
Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cyclingKate Baker, Sarah L Gordon, Detelina Grozeva, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 13, 2019
Null variants and deletions in BRWD3 cause an X-linked syndrome of mild-moderate intellectual disability, macrocephaly, and obesity: A series of 17 patientsPhilip J Ostrowski, Anna Zachariou, Chey Loveday, et al.
BMC Medical Genetics|January 13, 2006
Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytomaJean-Pierre Bayley, Ivonne van Minderhout, Marjan M Weiss, et al.
European Journal of Human Genetics : EJHG|November 29, 2012
Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosisSalima El Chehadeh-Djebbar, Edward Blair, Muriel Holder-Espinasse, et al.
Journal of Medical Genetics|April 19, 2012
Mutations in GRIP1 cause Fraser syndromeMaartje J Vogel, Patrick van Zon, Louise Brueton, et al.
Human Molecular Genetics|September 12, 2015
Insulin response dysregulation explains abnormal fat storage and increased risk of diabetes mellitus type 2 in Cohen SyndromeFloriane Limoge, Laurence Faivre, Thomas Gautier, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 18, 2016
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samplesRoddy Walsh, Kate L Thomson, James S Ware, et al.
Genome Medicine|July 27, 2019
Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case seriesJohn Taylor, Jude Craft, Edward Blair, et al.
Clinical Genetics|October 3, 2020
Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorderNina B Gold, Dong Li, Anna Chassevent, et al.
Circulation. Genomic and Precision Medicine|March 13, 2020
Reevaluation of the South Asian <i>MYBPC3</i><sup>Δ25bp</sup> Intronic Deletion in Hypertrophic CardiomyopathyAndrew R Harper, Michael Bowman, Jesse B G Hayesmoore, et al.
Pageof 7