Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Ian Hayes

Showing results (41-50 of 52) with videos related to

Pageof 6
Sort By:
Clinical Genetics|June 6, 2022
Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6Céline B Gerber, Anna Fliedner, Oliver Bartsch, et al.
Heart Rhythm|November 13, 2010
Prospective, population-based long QT molecular autopsy study of postmortem negative sudden death in 1 to 40 year oldsJonathan R Skinner, Jackie Crawford, Warren Smith, et al.
European Heart Journal|April 4, 2026
DMPK 3' untranslated repeat expansions in unexplained sudden cardiac death in the youngZoe Ward, Jackson O'Neill, Rachael Stiles, et al.
Nature Genetics|March 2, 2011
Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1David R Goudie, Mariella D'Alessandro, Barry Merriman, et al.
American Journal of Medical Genetics. Part A|September 27, 2016
Clinical and genetic aspects of KBG syndromeKaren Low, Tazeen Ashraf, Natalie Canham, et al.
Human Mutation|October 23, 2012
Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneityArianna Tucci, Eleanna Kara, Anna Schossig, et al.
Human Mutation|June 25, 2020
Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disordersFatima Abdelfattah, Ariana Kariminejad, Anne-Karin Kahlert, 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.
European Heart Journal|March 5, 2025
A rare splice-site variant in TNNT2: the need for ancestral diversity in genomic reference data setsAlexandra Butters, Kate Thomson, Franki Harrington, et al.
American Journal of Human Genetics|October 12, 2023
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomaliesZelha Nil, Ashish R Deshwar, Yan Huang, et al.
Pageof 6

Showing results (41-50 of 52) with videos related to

Sort By:
Pageof 6
Clinical Genetics|June 6, 2022
Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6Céline B Gerber, Anna Fliedner, Oliver Bartsch, et al.
Heart Rhythm|November 13, 2010
Prospective, population-based long QT molecular autopsy study of postmortem negative sudden death in 1 to 40 year oldsJonathan R Skinner, Jackie Crawford, Warren Smith, et al.
European Heart Journal|April 4, 2026
DMPK 3' untranslated repeat expansions in unexplained sudden cardiac death in the youngZoe Ward, Jackson O'Neill, Rachael Stiles, et al.
Nature Genetics|March 2, 2011
Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1David R Goudie, Mariella D'Alessandro, Barry Merriman, et al.
American Journal of Medical Genetics. Part A|September 27, 2016
Clinical and genetic aspects of KBG syndromeKaren Low, Tazeen Ashraf, Natalie Canham, et al.
Human Mutation|October 23, 2012
Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneityArianna Tucci, Eleanna Kara, Anna Schossig, et al.
Human Mutation|June 25, 2020
Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disordersFatima Abdelfattah, Ariana Kariminejad, Anne-Karin Kahlert, 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.
European Heart Journal|March 5, 2025
A rare splice-site variant in TNNT2: the need for ancestral diversity in genomic reference data setsAlexandra Butters, Kate Thomson, Franki Harrington, et al.
American Journal of Human Genetics|October 12, 2023
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomaliesZelha Nil, Ashish R Deshwar, Yan Huang, et al.
Pageof 6