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Michael A Simpson

Showing results (61-70 of 168) with videos related to

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Circulation Research|February 16, 2013
Mutation in vascular endothelial growth factor-C, a ligand for vascular endothelial growth factor receptor-3, is associated with autosomal dominant milroy-like primary lymphedemaKristiana Gordon, Dörte Schulte, Glen Brice, et al.
American Journal of Human Genetics|July 17, 2012
De novo mutations in MLL cause Wiedemann-Steiner syndromeWendy D Jones, Dimitra Dafou, Meriel McEntagart, et al.
Plos One|January 31, 2015
Exome sequencing of 75 individuals from multiply affected coeliac families and large scale resequencing follow upVanisha Mistry, Nicholas A Bockett, Adam P Levine, et al.
Thrombosis and Haemostasis|January 9, 2015
Diversity and impact of rare variants in genes encoding the platelet G protein-coupled receptorsMatthew L Jones, Jane E Norman, Neil V Morgan, et al.
The Journal of Investigative Dermatology|August 20, 2013
Generalized pustular eruptions: time to adapt the disease taxonomy to the genetic architecture?Alexander A Navarini, Laurence Valeyrie-Allanore, Niovi Setta-Kaffetzi, et al.
The Journal of Investigative Dermatology|January 30, 2013
Rare variations in IL36RN in severe adverse drug reactions manifesting as acute generalized exanthematous pustulosisAlexander A Navarini, Laurence Valeyrie-Allanore, Niovi Setta-Kaffetzi, et al.
Orphanet Journal of Rare Diseases|May 18, 2013
A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver diseaseNeil V Morgan, Jane L Hartley, Kenneth D R Setchell, et al.
Journal of Dermatological Science|August 25, 2016
Ectodermal dysplasia-skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1Chao-Kai Hsu, Lu Liu, Pelin K Can, et al.
JAMA Cardiology|September 18, 2024
Exploring the Link Between Genetic Predictors of Cardiovascular Disease and PsoriasisRavi Ramessur, Jake Saklatvala, Ashley Budu-Aggrey, et al.
The Journal of Clinical Endocrinology and Metabolism|July 9, 2014
Germline FH mutations presenting with pheochromocytomaGraeme R Clark, Marco Sciacovelli, Edoardo Gaude, et al.
Pageof 17

Showing results (61-70 of 168) with videos related to

Sort By:
Pageof 17
Circulation Research|February 16, 2013
Mutation in vascular endothelial growth factor-C, a ligand for vascular endothelial growth factor receptor-3, is associated with autosomal dominant milroy-like primary lymphedemaKristiana Gordon, Dörte Schulte, Glen Brice, et al.
American Journal of Human Genetics|July 17, 2012
De novo mutations in MLL cause Wiedemann-Steiner syndromeWendy D Jones, Dimitra Dafou, Meriel McEntagart, et al.
Plos One|January 31, 2015
Exome sequencing of 75 individuals from multiply affected coeliac families and large scale resequencing follow upVanisha Mistry, Nicholas A Bockett, Adam P Levine, et al.
Thrombosis and Haemostasis|January 9, 2015
Diversity and impact of rare variants in genes encoding the platelet G protein-coupled receptorsMatthew L Jones, Jane E Norman, Neil V Morgan, et al.
The Journal of Investigative Dermatology|August 20, 2013
Generalized pustular eruptions: time to adapt the disease taxonomy to the genetic architecture?Alexander A Navarini, Laurence Valeyrie-Allanore, Niovi Setta-Kaffetzi, et al.
The Journal of Investigative Dermatology|January 30, 2013
Rare variations in IL36RN in severe adverse drug reactions manifesting as acute generalized exanthematous pustulosisAlexander A Navarini, Laurence Valeyrie-Allanore, Niovi Setta-Kaffetzi, et al.
Orphanet Journal of Rare Diseases|May 18, 2013
A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver diseaseNeil V Morgan, Jane L Hartley, Kenneth D R Setchell, et al.
Journal of Dermatological Science|August 25, 2016
Ectodermal dysplasia-skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1Chao-Kai Hsu, Lu Liu, Pelin K Can, et al.
JAMA Cardiology|September 18, 2024
Exploring the Link Between Genetic Predictors of Cardiovascular Disease and PsoriasisRavi Ramessur, Jake Saklatvala, Ashley Budu-Aggrey, et al.
The Journal of Clinical Endocrinology and Metabolism|July 9, 2014
Germline FH mutations presenting with pheochromocytomaGraeme R Clark, Marco Sciacovelli, Edoardo Gaude, et al.
Pageof 17