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

Matthew E Hurles

Showing results (121-130 of 190) with videos related to

Pageof 19
Sort By:
Neurology|April 3, 2015
Loss of PCLO function underlies pontocerebellar hypoplasia type IIIMustafa Y Ahmed, Barry A Chioza, Anna Rajab, et al.
Nature Communications|December 6, 2023
Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variationElizabeth J Radford, Hong-Kee Tan, Malin H L Andersson, et al.
Nature|October 8, 2025
Sperm sequencing reveals extensive positive selection in the male germlineMatthew D C Neville, Andrew R J Lawson, Rashesh Sanghvi, et al.
Plos Genetics|January 28, 2006
Genetic analysis of completely sequenced disease-associated MHC haplotypes identifies shuffling of segments in recent human historyJames A Traherne, Roger Horton, Anne N Roberts, et al.
Human Molecular Genetics|December 26, 2006
Structural variation on the short arm of the human Y chromosome: recurrent multigene deletions encompassing Amelogenin YMark A Jobling, Iek Chi C Lo, Daniel J Turner, et al.
Human Molecular Genetics|January 29, 2010
Independent and population-specific association of risk variants at the IRGM locus with Crohn's diseaseNatalie J Prescott, Katherine M Dominy, Michiaki Kubo, et al.
Nature|November 20, 2024
Examining the role of common variants in rare neurodevelopmental conditionsQin Qin Huang, Emilie M Wigdor, Daniel S Malawsky, et al.
Nature Genetics|July 5, 2024
Saturation genome editing of BAP1 functionally classifies somatic and germline variantsAndrew J Waters, Timothy Brendler-Spaeth, Danielle Smith, et al.
JAMA Neurology|October 9, 2013
COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthoodRobert D S Pitceathly, Jan-Willem Taanman, Shamima Rahman, et al.
Brain : a Journal of Neurology|October 10, 2013
Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesisGaurav V Harlalka, Anna Lehman, Barry Chioza, et al.
Pageof 19

Showing results (121-130 of 190) with videos related to

Sort By:
Pageof 19
Neurology|April 3, 2015
Loss of PCLO function underlies pontocerebellar hypoplasia type IIIMustafa Y Ahmed, Barry A Chioza, Anna Rajab, et al.
Nature Communications|December 6, 2023
Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variationElizabeth J Radford, Hong-Kee Tan, Malin H L Andersson, et al.
Nature|October 8, 2025
Sperm sequencing reveals extensive positive selection in the male germlineMatthew D C Neville, Andrew R J Lawson, Rashesh Sanghvi, et al.
Plos Genetics|January 28, 2006
Genetic analysis of completely sequenced disease-associated MHC haplotypes identifies shuffling of segments in recent human historyJames A Traherne, Roger Horton, Anne N Roberts, et al.
Human Molecular Genetics|December 26, 2006
Structural variation on the short arm of the human Y chromosome: recurrent multigene deletions encompassing Amelogenin YMark A Jobling, Iek Chi C Lo, Daniel J Turner, et al.
Human Molecular Genetics|January 29, 2010
Independent and population-specific association of risk variants at the IRGM locus with Crohn's diseaseNatalie J Prescott, Katherine M Dominy, Michiaki Kubo, et al.
Nature|November 20, 2024
Examining the role of common variants in rare neurodevelopmental conditionsQin Qin Huang, Emilie M Wigdor, Daniel S Malawsky, et al.
Nature Genetics|July 5, 2024
Saturation genome editing of BAP1 functionally classifies somatic and germline variantsAndrew J Waters, Timothy Brendler-Spaeth, Danielle Smith, et al.
JAMA Neurology|October 9, 2013
COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthoodRobert D S Pitceathly, Jan-Willem Taanman, Shamima Rahman, et al.
Brain : a Journal of Neurology|October 10, 2013
Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesisGaurav V Harlalka, Anna Lehman, Barry Chioza, et al.
Pageof 19