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

D E Bulman

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

Pageof 6
Sort By:
Nature Genetics|May 1, 1993
Dystrophin expression in the human retina is required for normal function as defined by electroretinographyD A Pillers, D E Bulman, R G Weleber, et al.
Nature|June 2, 1988
The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscleE E Zubrzycka-Gaarn, D E Bulman, G Karpati, et al.
Journal of Medical Genetics|September 10, 2003
Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22E M Chan, D E Bulman, A D Paterson, et al.
Nature|January 11, 1990
Very mild muscular dystrophy associated with the deletion of 46% of dystrophinS B England, L V Nicholson, M A Johnson, et al.
Clinical Genetics|June 1, 2018
A ZPR1 mutation is associated with a novel syndrome of growth restriction, distinct craniofacial features, alopecia, and hypoplastic kidneysY A Ito, A C Smith, K D Kernohan, et al.
Clinical Genetics|July 22, 2014
Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective studyD A Dyment, M Tétreault, C L Beaulieu, et al.
Clinical Genetics|January 16, 2015
LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tonguesJodi Warman Chardon, A C Smith, J Woulfe, et al.
Clinical Genetics|October 30, 2013
Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsyD A Dyment, E Sell, M R Vanstone, et al.
Cell|November 1, 1996
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4R A Ophoff, G M Terwindt, M N Vergouwe, et al.
Clinical Genetics|July 15, 2017
Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 familiesT Hartley, J D Wagner, J Warman-Chardon, et al.
Pageof 6

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

Sort By:
Pageof 6
Nature Genetics|May 1, 1993
Dystrophin expression in the human retina is required for normal function as defined by electroretinographyD A Pillers, D E Bulman, R G Weleber, et al.
Nature|June 2, 1988
The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscleE E Zubrzycka-Gaarn, D E Bulman, G Karpati, et al.
Journal of Medical Genetics|September 10, 2003
Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22E M Chan, D E Bulman, A D Paterson, et al.
Nature|January 11, 1990
Very mild muscular dystrophy associated with the deletion of 46% of dystrophinS B England, L V Nicholson, M A Johnson, et al.
Clinical Genetics|June 1, 2018
A ZPR1 mutation is associated with a novel syndrome of growth restriction, distinct craniofacial features, alopecia, and hypoplastic kidneysY A Ito, A C Smith, K D Kernohan, et al.
Clinical Genetics|July 22, 2014
Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective studyD A Dyment, M Tétreault, C L Beaulieu, et al.
Clinical Genetics|January 16, 2015
LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tonguesJodi Warman Chardon, A C Smith, J Woulfe, et al.
Clinical Genetics|October 30, 2013
Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsyD A Dyment, E Sell, M R Vanstone, et al.
Cell|November 1, 1996
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4R A Ophoff, G M Terwindt, M N Vergouwe, et al.
Clinical Genetics|July 15, 2017
Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 familiesT Hartley, J D Wagner, J Warman-Chardon, et al.
Pageof 6