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Human mutation

Showing results (401-410 of 6,541) with videos related to

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Human Mutation|July 23, 2003
Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth DiseaseMichael Hunter, Rafaëlle Bernard, Elizabeth Freitas, et al.
Human Mutation|July 23, 2003
Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type IjXiaohua Wu, Jeffrey S Rush, Denise Karaoglu, et al.
Human Mutation|July 23, 2003
Detection of mitochondrial DNA mutations in gestational trophoblastic diseasePui Man Chiu, Vincent W S Liu, Hextan Y S Ngan, et al.
Human Mutation|July 23, 2003
Four novel mutations in APOB causing heterozygous and homozygous familial hypobetalipoproteinemiaA J Whitfield, A D Marais, K Robertson, et al.
Human Mutation|July 23, 2003
Myocilin analysis by DHPLC in French POAG patients: increased prevalence of Q368X mutationRahma Melki, Ahmed Belmouden, Antoine Brézin, et al.
Human Mutation|January 1, 1992
Screening for germ-line mutations in familial adenomatous polyposis patients: 61 new patients and a summary of 150 unrelated patientsH Nagase, Y Miyoshi, A Horii, et al.
Human Mutation|January 1, 1992
Linkage studies and mutation analysis of the PDEB gene in 23 families with Leber congenital amaurosisO Riess, B Weber, A Noeremolle, et al.
Human Mutation|November 25, 2003
Somatic NF1 mutation spectra in a family with neurofibromatosis type 1: toward a theory of genetic modifiersVerena Wiest, Ingrid Eisenbarth, Claudia Schmegner, et al.
Human Mutation|November 25, 2003
Bridging structural biology and genetics by computational methods: an investigation into how the R774C mutation in the AR gene can result in complete androgen insensitivity syndromeJian Hui Wu, Bruce Gottlieb, Gerald Batist, et al.
Human Mutation|November 25, 2003
Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2David P Cregeen, Emma L Williams, Sally Hulton, et al.
Pageof 655

Showing results (401-410 of 6,541) with videos related to

Sort By:
Pageof 655
Human Mutation|July 23, 2003
Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth DiseaseMichael Hunter, Rafaëlle Bernard, Elizabeth Freitas, et al.
Human Mutation|July 23, 2003
Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type IjXiaohua Wu, Jeffrey S Rush, Denise Karaoglu, et al.
Human Mutation|July 23, 2003
Detection of mitochondrial DNA mutations in gestational trophoblastic diseasePui Man Chiu, Vincent W S Liu, Hextan Y S Ngan, et al.
Human Mutation|July 23, 2003
Four novel mutations in APOB causing heterozygous and homozygous familial hypobetalipoproteinemiaA J Whitfield, A D Marais, K Robertson, et al.
Human Mutation|July 23, 2003
Myocilin analysis by DHPLC in French POAG patients: increased prevalence of Q368X mutationRahma Melki, Ahmed Belmouden, Antoine Brézin, et al.
Human Mutation|January 1, 1992
Screening for germ-line mutations in familial adenomatous polyposis patients: 61 new patients and a summary of 150 unrelated patientsH Nagase, Y Miyoshi, A Horii, et al.
Human Mutation|January 1, 1992
Linkage studies and mutation analysis of the PDEB gene in 23 families with Leber congenital amaurosisO Riess, B Weber, A Noeremolle, et al.
Human Mutation|November 25, 2003
Somatic NF1 mutation spectra in a family with neurofibromatosis type 1: toward a theory of genetic modifiersVerena Wiest, Ingrid Eisenbarth, Claudia Schmegner, et al.
Human Mutation|November 25, 2003
Bridging structural biology and genetics by computational methods: an investigation into how the R774C mutation in the AR gene can result in complete androgen insensitivity syndromeJian Hui Wu, Bruce Gottlieb, Gerald Batist, et al.
Human Mutation|November 25, 2003
Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2David P Cregeen, Emma L Williams, Sally Hulton, et al.
Pageof 655