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

Alison Gardner

Showing results (41-50 of 54) with videos related to

Pageof 6
Sort By:
American Journal of Human Genetics|September 25, 2012
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disabilityLingli Huang, Lachlan A Jolly, Saffron Willis-Owen, et al.
Nature Genetics|May 18, 2010
Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disabilityCheryl Shoubridge, Patrick S Tarpey, Fatima Abidi, et al.
Brain : a Journal of Neurology|March 10, 2007
The spectrum of SCN1A-related infantile epileptic encephalopathiesLouise A Harkin, Jacinta M McMahon, Xenia Iona, et al.
BMJ Open|May 1, 2016
HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing studyMichael J Friez, Susan Sklower Brooks, Roger E Stevenson, 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|July 31, 2024
RNA variant assessment using transactivation and transdifferentiationEmmylou C Nicolas-Martinez, Olivia Robinson, Christian Pflueger, et al.
Human Molecular Genetics|October 8, 2015
Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problemsRaman Kumar, Mark A Corbett, Bregje W M Van Bon, et al.
American Journal of Human Genetics|April 30, 2013
ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticityHiromi Hirata, Indrajit Nanda, Anne van Riesen, et al.
Nature Genetics|August 21, 2007
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardationPatrick S Tarpey, F Lucy Raymond, Lam S Nguyen, et al.
Pageof 6

Showing results (41-50 of 54) with videos related to

Sort By:
Pageof 6
American Journal of Human Genetics|September 25, 2012
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disabilityLingli Huang, Lachlan A Jolly, Saffron Willis-Owen, et al.
Nature Genetics|May 18, 2010
Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disabilityCheryl Shoubridge, Patrick S Tarpey, Fatima Abidi, et al.
Brain : a Journal of Neurology|March 10, 2007
The spectrum of SCN1A-related infantile epileptic encephalopathiesLouise A Harkin, Jacinta M McMahon, Xenia Iona, et al.
BMJ Open|May 1, 2016
HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing studyMichael J Friez, Susan Sklower Brooks, Roger E Stevenson, 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|July 31, 2024
RNA variant assessment using transactivation and transdifferentiationEmmylou C Nicolas-Martinez, Olivia Robinson, Christian Pflueger, et al.
Human Molecular Genetics|October 8, 2015
Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problemsRaman Kumar, Mark A Corbett, Bregje W M Van Bon, et al.
American Journal of Human Genetics|April 30, 2013
ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticityHiromi Hirata, Indrajit Nanda, Anne van Riesen, et al.
Nature Genetics|August 21, 2007
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardationPatrick S Tarpey, F Lucy Raymond, Lam S Nguyen, et al.
Pageof 6