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

Elizabeth M Thompson

Showing results (21-30 of 32) with videos related to

Pageof 4
Sort By:
Annals of Neurology|September 22, 2007
Molecular consequences of dominant Bethlem myopathy collagen VI mutationsNaomi L Baker, Matthias Mörgelin, Rishika A Pace, et al.
Nature Genetics|May 4, 2010
De novo mutations of SETBP1 cause Schinzel-Giedion syndromeAlexander Hoischen, Bregje W M van Bon, Christian Gilissen, et al.
European Journal of Human Genetics : EJHG|October 4, 2012
Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin AEyal Reinstein, Sophia Frentz, Tim Morgan, et al.
American Journal of Human Genetics|November 26, 2013
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline MyopathyVandana A Gupta, Gianina Ravenscroft, Ranad Shaheen, 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.
Nature Neuroscience|June 20, 2017
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domainsMadeleine R Geisheker, Gabriel Heymann, Tianyun Wang, et al.
Brain : a Journal of Neurology|March 19, 2020
CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosisCarol Dobson-Stone, Marianne Hallupp, Hamideh Shahheydari, et al.
Journal of Medical Genetics|July 14, 2012
Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic HedgehogBenjamin D Solomon, Kelly A Bear, Adrian Wyllie, et al.
European Journal of Human Genetics : EJHG|August 27, 2015
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variantDavid A Koolen, Rolph Pfundt, Katrin Linda, et al.
American Journal of Medical Genetics. Part A|January 22, 2015
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotypePaulien A Terhal, Rutger Jan A J Nievelstein, Eva J J Verver, et al.
Pageof 4

Showing results (21-30 of 32) with videos related to

Sort By:
Pageof 4
Annals of Neurology|September 22, 2007
Molecular consequences of dominant Bethlem myopathy collagen VI mutationsNaomi L Baker, Matthias Mörgelin, Rishika A Pace, et al.
Nature Genetics|May 4, 2010
De novo mutations of SETBP1 cause Schinzel-Giedion syndromeAlexander Hoischen, Bregje W M van Bon, Christian Gilissen, et al.
European Journal of Human Genetics : EJHG|October 4, 2012
Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin AEyal Reinstein, Sophia Frentz, Tim Morgan, et al.
American Journal of Human Genetics|November 26, 2013
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline MyopathyVandana A Gupta, Gianina Ravenscroft, Ranad Shaheen, 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.
Nature Neuroscience|June 20, 2017
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domainsMadeleine R Geisheker, Gabriel Heymann, Tianyun Wang, et al.
Brain : a Journal of Neurology|March 19, 2020
CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosisCarol Dobson-Stone, Marianne Hallupp, Hamideh Shahheydari, et al.
Journal of Medical Genetics|July 14, 2012
Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic HedgehogBenjamin D Solomon, Kelly A Bear, Adrian Wyllie, et al.
European Journal of Human Genetics : EJHG|August 27, 2015
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variantDavid A Koolen, Rolph Pfundt, Katrin Linda, et al.
American Journal of Medical Genetics. Part A|January 22, 2015
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotypePaulien A Terhal, Rutger Jan A J Nievelstein, Eva J J Verver, et al.
Pageof 4