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N Cooper

Showing results (711-720 of 1,439) with videos related to

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Human Mutation|May 28, 2011
Monozygotic twins discordant for neurofibromatosis type 1 due to a postzygotic NF1 gene mutationJulia Vogt, Jürgen Kohlhase, Susanne Morlot, et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia|September 21, 2007
Compound heterozygosity for two novel mutations (1203insG/Y1456X) in the von Willebrand factor gene causing type 3 von Willebrand diseaseF Xie, X Wang, D N Cooper, et al.
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis|April 1, 1995
Three novel mutations in the protein C (PROC) gene causing venous thrombosisD S Millar, D Bevan, A Chitolie, et al.
Human Mutation|November 11, 2010
Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutationsGuojie Zhang, Zhang Pei, Michael Krawczak, et al.
European Journal of Human Genetics : EJHG|October 6, 2016
Improving the in silico assessment of pathogenicity for compensated variantsLuisa Azevedo, Matthew Mort, Antonio C Costa, et al.
BMC Medicine|August 30, 2022
Genetic evidence for a causal relationship between type 2 diabetes and peripheral artery disease in both Europeans and East AsiansXuehao Xiu, Haoyang Zhang, Angli Xue, et al.
BMC Medical Genetics|October 30, 2012
Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletionsTanja Mußotter, Lan Kluwe, Josef Högel, et al.
Human Genetics|January 1, 1990
Cloning and sequence analysis of the human parathyroid hormone gene regionA Reis, W Hecht, R Gröger, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 4, 2005
Targeting c-Myc-activated genes with a correlation method: detection of global changes in large gene expression network dynamicsD Remondini, B O'Connell, N Intrator, et al.
Molecular Biology & Medicine|December 1, 1990
Characterization of pathological dystrophin transcripts from the lymphocytes of a muscular dystrophy carrierM Schloesser, R Slomski, M Wagner, et al.
Pageof 144

Showing results (711-720 of 1,439) with videos related to

Sort By:
Pageof 144
Human Mutation|May 28, 2011
Monozygotic twins discordant for neurofibromatosis type 1 due to a postzygotic NF1 gene mutationJulia Vogt, Jürgen Kohlhase, Susanne Morlot, et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia|September 21, 2007
Compound heterozygosity for two novel mutations (1203insG/Y1456X) in the von Willebrand factor gene causing type 3 von Willebrand diseaseF Xie, X Wang, D N Cooper, et al.
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis|April 1, 1995
Three novel mutations in the protein C (PROC) gene causing venous thrombosisD S Millar, D Bevan, A Chitolie, et al.
Human Mutation|November 11, 2010
Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutationsGuojie Zhang, Zhang Pei, Michael Krawczak, et al.
European Journal of Human Genetics : EJHG|October 6, 2016
Improving the in silico assessment of pathogenicity for compensated variantsLuisa Azevedo, Matthew Mort, Antonio C Costa, et al.
BMC Medicine|August 30, 2022
Genetic evidence for a causal relationship between type 2 diabetes and peripheral artery disease in both Europeans and East AsiansXuehao Xiu, Haoyang Zhang, Angli Xue, et al.
BMC Medical Genetics|October 30, 2012
Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletionsTanja Mußotter, Lan Kluwe, Josef Högel, et al.
Human Genetics|January 1, 1990
Cloning and sequence analysis of the human parathyroid hormone gene regionA Reis, W Hecht, R Gröger, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 4, 2005
Targeting c-Myc-activated genes with a correlation method: detection of global changes in large gene expression network dynamicsD Remondini, B O'Connell, N Intrator, et al.
Molecular Biology & Medicine|December 1, 1990
Characterization of pathological dystrophin transcripts from the lymphocytes of a muscular dystrophy carrierM Schloesser, R Slomski, M Wagner, et al.
Pageof 144