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

Michael A Simpson

Showing results (91-100 of 168) with videos related to

Pageof 17
Sort By:
Nature Genetics|October 27, 2004
Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthaseMichael A Simpson, Harold Cross, Christos Proukakis, et al.
Neurogenetics|October 28, 2017
Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunitsRuth I C Glasgow, Kyle Thompson, Inês A Barbosa, et al.
Nature Communications|September 4, 2015
Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalisElisavet Fotiou, Silvia Martin-Almedina, Michael A Simpson, et al.
American Journal of Human Genetics|January 6, 2015
Defects of CRB2 cause steroid-resistant nephrotic syndromeLwaki Ebarasi, Shazia Ashraf, Agnieszka Bierzynska, et al.
Blood|October 9, 2013
Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defectsJacqueline Stockley, Neil V Morgan, Danai Bem, et al.
The British Journal of Dermatology|March 18, 2026
Genome-wide meta-analysis in lichen sclerosus identifies 14 genomic risk lociNick Dand, Tuntas Rayinda, Eeva Silz, et al.
Nature Communications|April 28, 2019
Author Correction: Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalisElisavet Fotiou, Silvia Martin-Almedina, Michael A Simpson, et al.
NPJ Parkinson'S Disease|May 25, 2019
Mitochondria function associated genes contribute to Parkinson's Disease risk and later age at onsetKimberley J Billingsley, Ines A Barbosa, Sara Bandrés-Ciga, et al.
American Journal of Human Genetics|August 26, 2014
Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndromeGabriela Petrof, Arti Nanda, Jake Howden, et al.
Plos One|November 2, 2017
Phenome-wide association study using research participants' self-reported data provides insight into the Th17 and IL-17 pathwayMargaret G Ehm, Jennifer L Aponte, Mathias N Chiano, et al.
Pageof 17

Showing results (91-100 of 168) with videos related to

Sort By:
Pageof 17
Nature Genetics|October 27, 2004
Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthaseMichael A Simpson, Harold Cross, Christos Proukakis, et al.
Neurogenetics|October 28, 2017
Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunitsRuth I C Glasgow, Kyle Thompson, Inês A Barbosa, et al.
Nature Communications|September 4, 2015
Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalisElisavet Fotiou, Silvia Martin-Almedina, Michael A Simpson, et al.
American Journal of Human Genetics|January 6, 2015
Defects of CRB2 cause steroid-resistant nephrotic syndromeLwaki Ebarasi, Shazia Ashraf, Agnieszka Bierzynska, et al.
Blood|October 9, 2013
Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defectsJacqueline Stockley, Neil V Morgan, Danai Bem, et al.
The British Journal of Dermatology|March 18, 2026
Genome-wide meta-analysis in lichen sclerosus identifies 14 genomic risk lociNick Dand, Tuntas Rayinda, Eeva Silz, et al.
Nature Communications|April 28, 2019
Author Correction: Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalisElisavet Fotiou, Silvia Martin-Almedina, Michael A Simpson, et al.
NPJ Parkinson'S Disease|May 25, 2019
Mitochondria function associated genes contribute to Parkinson's Disease risk and later age at onsetKimberley J Billingsley, Ines A Barbosa, Sara Bandrés-Ciga, et al.
American Journal of Human Genetics|August 26, 2014
Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndromeGabriela Petrof, Arti Nanda, Jake Howden, et al.
Plos One|November 2, 2017
Phenome-wide association study using research participants' self-reported data provides insight into the Th17 and IL-17 pathwayMargaret G Ehm, Jennifer L Aponte, Mathias N Chiano, et al.
Pageof 17