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C Manson

Showing results (161-170 of 174) with videos related to

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Molecular Genetics and Metabolism|May 18, 2013
ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix componentsMarianne Rohrbach, Helen L Spencer, Louise F Porter, et al.
Plos Pathogens|February 18, 2021
Preclinical transmission of prions by blood transfusion is influenced by donor genotype and route of infectionM Khalid F Salamat, A Richard Alejo Blanco, Sandra McCutcheon, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 10, 2015
MiR-204 is responsible for inherited retinal dystrophy associated with ocular colobomaIvan Conte, Kristen D Hadfield, Sara Barbato, et al.
Elife|July 22, 2017
Pro-death NMDA receptor signaling is promoted by the GluN2B C-terminus independently of Dapk1Jamie McQueen, Tomás J Ryan, Sean McKay, et al.
Brain Pathology (Zurich, Switzerland)|February 1, 2012
MM2-thalamic Creutzfeldt-Jakob disease: neuropathological, biochemical and transmission studies identify a distinctive prion strainFabio Moda, Silvia Suardi, Giuseppe Di Fede, et al.
American Journal of Human Genetics|April 20, 2010
Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71Darryl Y Nishimura, Lisa M Baye, Rahat Perveen, et al.
American Journal of Human Genetics|January 9, 2008
Biallelic mutation of BEST1 causes a distinct retinopathy in humansRosemary Burgess, Ian D Millar, Bart P Leroy, et al.
American Journal of Human Genetics|October 27, 2009
Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosaAlice E Davidson, Ian D Millar, Jill E Urquhart, et al.
The Journal of General Virology|April 13, 2012
Chronic wasting disease and atypical forms of bovine spongiform encephalopathy and scrapie are not transmissible to mice expressing wild-type levels of human prion proteinRona Wilson, Chris Plinston, Nora Hunter, et al.
American Journal of Human Genetics|May 14, 2004
Delineation of Cohen syndrome following a large-scale genotype-phenotype screenJuha Kolehmainen, Robert Wilkinson, Anna-Elina Lehesjoki, et al.
Pageof 18

Showing results (161-170 of 174) with videos related to

Sort By:
Pageof 18
Molecular Genetics and Metabolism|May 18, 2013
ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix componentsMarianne Rohrbach, Helen L Spencer, Louise F Porter, et al.
Plos Pathogens|February 18, 2021
Preclinical transmission of prions by blood transfusion is influenced by donor genotype and route of infectionM Khalid F Salamat, A Richard Alejo Blanco, Sandra McCutcheon, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 10, 2015
MiR-204 is responsible for inherited retinal dystrophy associated with ocular colobomaIvan Conte, Kristen D Hadfield, Sara Barbato, et al.
Elife|July 22, 2017
Pro-death NMDA receptor signaling is promoted by the GluN2B C-terminus independently of Dapk1Jamie McQueen, Tomás J Ryan, Sean McKay, et al.
Brain Pathology (Zurich, Switzerland)|February 1, 2012
MM2-thalamic Creutzfeldt-Jakob disease: neuropathological, biochemical and transmission studies identify a distinctive prion strainFabio Moda, Silvia Suardi, Giuseppe Di Fede, et al.
American Journal of Human Genetics|April 20, 2010
Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71Darryl Y Nishimura, Lisa M Baye, Rahat Perveen, et al.
American Journal of Human Genetics|January 9, 2008
Biallelic mutation of BEST1 causes a distinct retinopathy in humansRosemary Burgess, Ian D Millar, Bart P Leroy, et al.
American Journal of Human Genetics|October 27, 2009
Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosaAlice E Davidson, Ian D Millar, Jill E Urquhart, et al.
The Journal of General Virology|April 13, 2012
Chronic wasting disease and atypical forms of bovine spongiform encephalopathy and scrapie are not transmissible to mice expressing wild-type levels of human prion proteinRona Wilson, Chris Plinston, Nora Hunter, et al.
American Journal of Human Genetics|May 14, 2004
Delineation of Cohen syndrome following a large-scale genotype-phenotype screenJuha Kolehmainen, Robert Wilkinson, Anna-Elina Lehesjoki, et al.
Pageof 18