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Michael Field

Showing results (101-110 of 136) with videos related to

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Epilepsia|September 27, 2016
The molecular and phenotypic spectrum of IQSEC2-related epilepsyAyelet Zerem, Kazuhiro Haginoya, Dorit Lev, et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology|September 9, 2017
Hypertension and cardiac arrhythmias: a consensus document from the European Heart Rhythm Association (EHRA) and ESC Council on Hypertension, endorsed by the Heart Rhythm Society (HRS), Asia-Pacific Heart Rhythm Society (APHRS) and Sociedad Latinoamericana de Estimulación Cardíaca y Electrofisiología (SOLEACE)Gregory Y H Lip, Antonio Coca, Thomas Kahan, et al.
Clinical Epigenetics|June 3, 2023
Identifying primary and secondary MLH1 epimutation carriers displaying low-level constitutional MLH1 methylation using droplet digital PCR and genome-wide DNA methylation profiling of colorectal cancersJihoon E Joo, Khalid Mahmood, Romy Walker, et al.
American Journal of Human Genetics|April 2, 2013
Mutations in KCTD1 cause scalp-ear-nipple syndromeAlexander G Marneros, Anita E Beck, Emily H Turner, et al.
Human Mutation|October 15, 2013
Extreme growth failure is a common presentation of ligase IV deficiencyJennie E Murray, Louise S Bicknell, Gökhan Yigit, et al.
Clinical Epigenetics|September 1, 2018
Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndromeVinod Dagar, Wendy Hutchison, Andrea Muscat, et al.
American Journal of Human Genetics|July 14, 2015
THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual DisabilityRaman Kumar, Mark A Corbett, Bregje W M van Bon, et al.
Human Mutation|June 1, 2018
Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machineryRaman Kumar, Alison Gardner, Claire C Homan, et al.
American Journal of Human Genetics|February 7, 2008
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardationGuy Froyen, Mark Corbett, Joke Vandewalle, et al.
International Journal of Colorectal Disease|March 10, 2010
Phenotypic diversity in patients with multiple serrated polyps: a genetics clinic studyDaniel D Buchanan, Kevin Sweet, Musa Drini, et al.
Pageof 14

Showing results (101-110 of 136) with videos related to

Sort By:
Pageof 14
Epilepsia|September 27, 2016
The molecular and phenotypic spectrum of IQSEC2-related epilepsyAyelet Zerem, Kazuhiro Haginoya, Dorit Lev, et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology|September 9, 2017
Hypertension and cardiac arrhythmias: a consensus document from the European Heart Rhythm Association (EHRA) and ESC Council on Hypertension, endorsed by the Heart Rhythm Society (HRS), Asia-Pacific Heart Rhythm Society (APHRS) and Sociedad Latinoamericana de Estimulación Cardíaca y Electrofisiología (SOLEACE)Gregory Y H Lip, Antonio Coca, Thomas Kahan, et al.
Clinical Epigenetics|June 3, 2023
Identifying primary and secondary MLH1 epimutation carriers displaying low-level constitutional MLH1 methylation using droplet digital PCR and genome-wide DNA methylation profiling of colorectal cancersJihoon E Joo, Khalid Mahmood, Romy Walker, et al.
American Journal of Human Genetics|April 2, 2013
Mutations in KCTD1 cause scalp-ear-nipple syndromeAlexander G Marneros, Anita E Beck, Emily H Turner, et al.
Human Mutation|October 15, 2013
Extreme growth failure is a common presentation of ligase IV deficiencyJennie E Murray, Louise S Bicknell, Gökhan Yigit, et al.
Clinical Epigenetics|September 1, 2018
Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndromeVinod Dagar, Wendy Hutchison, Andrea Muscat, et al.
American Journal of Human Genetics|July 14, 2015
THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual DisabilityRaman Kumar, Mark A Corbett, Bregje W M van Bon, et al.
Human Mutation|June 1, 2018
Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machineryRaman Kumar, Alison Gardner, Claire C Homan, et al.
American Journal of Human Genetics|February 7, 2008
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardationGuy Froyen, Mark Corbett, Joke Vandewalle, et al.
International Journal of Colorectal Disease|March 10, 2010
Phenotypic diversity in patients with multiple serrated polyps: a genetics clinic studyDaniel D Buchanan, Kevin Sweet, Musa Drini, et al.
Pageof 14