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

Richard Webster

Showing results (151-160 of 163) with videos related to

Pageof 17
Sort By:
Annals of Neurology|August 3, 2024
Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS)Sindhu Viswanathan, Karen L Oliver, Brigid M Regan, et al.
American Journal of Medical Genetics. Part A|June 6, 2020
Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapyTara L Wenger, Randall A Bly, Natalie Wu, et al.
Neurology|August 28, 2019
Vamorolone trial in Duchenne muscular dystrophy shows dose-related improvement of muscle functionEric P Hoffman, Benjamin D Schwartz, Laurel J Mengle-Gaw, et al.
Nature Genetics|May 28, 2013
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1Gemma L Carvill, Sinéad B Heavin, Simone C Yendle, et al.
Pharmacological Research|September 17, 2018
Phase IIa trial in Duchenne muscular dystrophy shows vamorolone is a first-in-class dissociative steroidal anti-inflammatory drugLaurie S Conklin, Jesse M Damsker, Eric P Hoffman, et al.
Neurology. Genetics|February 12, 2020
Clinical spectrum of POLR3-related leukodystrophy caused by biallelic <i>POLR1C</i> pathogenic variantsLaurence Gauquelin, Ferdy K Cayami, László Sztriha, et al.
American Journal of Human Genetics|December 5, 2017
A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb MalformationsElizabeth E Palmer, Raman Kumar, Christopher T Gordon, et al.
Human Mutation|June 18, 2019
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenitaSuzanna G M Frints, Friederike Hennig, Roberto Colombo, et al.
BMJ Open|April 22, 2025
TRANSCENDENT (Transforming Research by Assessing Neuroinformatics across the Spectrum of Concussion by Embedding iNterdisciplinary Data-collection to Enable Novel Treatments): protocol for a prospective observational cohort study of concussion patients with embedded comparative effectiveness research within a network of learning health system concussion clinics in CanadaRoger Zemek, Lisa M Albrecht, Sharon Johnston, 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.
Pageof 17

Showing results (151-160 of 163) with videos related to

Sort By:
Pageof 17
Annals of Neurology|August 3, 2024
Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS)Sindhu Viswanathan, Karen L Oliver, Brigid M Regan, et al.
American Journal of Medical Genetics. Part A|June 6, 2020
Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapyTara L Wenger, Randall A Bly, Natalie Wu, et al.
Neurology|August 28, 2019
Vamorolone trial in Duchenne muscular dystrophy shows dose-related improvement of muscle functionEric P Hoffman, Benjamin D Schwartz, Laurel J Mengle-Gaw, et al.
Nature Genetics|May 28, 2013
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1Gemma L Carvill, Sinéad B Heavin, Simone C Yendle, et al.
Pharmacological Research|September 17, 2018
Phase IIa trial in Duchenne muscular dystrophy shows vamorolone is a first-in-class dissociative steroidal anti-inflammatory drugLaurie S Conklin, Jesse M Damsker, Eric P Hoffman, et al.
Neurology. Genetics|February 12, 2020
Clinical spectrum of POLR3-related leukodystrophy caused by biallelic <i>POLR1C</i> pathogenic variantsLaurence Gauquelin, Ferdy K Cayami, László Sztriha, et al.
American Journal of Human Genetics|December 5, 2017
A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb MalformationsElizabeth E Palmer, Raman Kumar, Christopher T Gordon, et al.
Human Mutation|June 18, 2019
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenitaSuzanna G M Frints, Friederike Hennig, Roberto Colombo, et al.
BMJ Open|April 22, 2025
TRANSCENDENT (Transforming Research by Assessing Neuroinformatics across the Spectrum of Concussion by Embedding iNterdisciplinary Data-collection to Enable Novel Treatments): protocol for a prospective observational cohort study of concussion patients with embedded comparative effectiveness research within a network of learning health system concussion clinics in CanadaRoger Zemek, Lisa M Albrecht, Sharon Johnston, 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.
Pageof 17