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Human mutation

Showing results (911-920 of 6,545) with videos related to

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Human Mutation|March 17, 2004
HAMP gene mutation c.208T>C (p.C70R) identified in an Italian patient with severe hereditary hemochromatosisS Majore, F Binni, A Pennese, et al.
Human Mutation|February 13, 2004
Loss of a single amino acid from dystrophin resulting in Duchenne muscular dystrophy with retention of dystrophin proteinKristin Becker, Stephanie A Robb, Zandra Hatton, et al.
Human Mutation|February 13, 2004
Characterisation of a 161 kb deletion extending from the NBR1 to the BRCA1 genes in a French breast-ovarian cancer familySophie Gad, Ivan Bièche, Michel Barrois, et al.
Human Mutation|November 9, 2004
Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B geneGabriella Esposito, Rita Santamaria, Luigi Vitagliano, et al.
Human Mutation|November 9, 2004
A novel mutation in UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) in two siblings with mucolipidosis type III alters a used glycosylation siteStephan Tiede, Michael Cantz, Annick Raas-Rothschild, et al.
Human Mutation|February 20, 2004
Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7)Gerbert A Jansen, Hans R Waterham, Ronald J A Wanders
Human Mutation|February 20, 2004
Gross Rearrangement Breakpoint Database (GRaBD)Shaun S Abeysinghe, Peter D Stenson, Michael Krawczak, et al.
Human Mutation|February 20, 2004
The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitisChelsee Hewitt, Derek McCormick, Gerry Linden, et al.
Human Mutation|February 20, 2004
APECED-causing mutations in AIRE reveal the functional domains of the proteinMaria Halonen, Hannele Kangas, Taina Rüppell, et al.
Human Mutation|February 20, 2004
Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activationAlessandra Fragale, Marco Tartaglia, Jie Wu, et al.
Pageof 655

Showing results (911-920 of 6,545) with videos related to

Sort By:
Pageof 655
Human Mutation|March 17, 2004
HAMP gene mutation c.208T>C (p.C70R) identified in an Italian patient with severe hereditary hemochromatosisS Majore, F Binni, A Pennese, et al.
Human Mutation|February 13, 2004
Loss of a single amino acid from dystrophin resulting in Duchenne muscular dystrophy with retention of dystrophin proteinKristin Becker, Stephanie A Robb, Zandra Hatton, et al.
Human Mutation|February 13, 2004
Characterisation of a 161 kb deletion extending from the NBR1 to the BRCA1 genes in a French breast-ovarian cancer familySophie Gad, Ivan Bièche, Michel Barrois, et al.
Human Mutation|November 9, 2004
Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B geneGabriella Esposito, Rita Santamaria, Luigi Vitagliano, et al.
Human Mutation|November 9, 2004
A novel mutation in UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) in two siblings with mucolipidosis type III alters a used glycosylation siteStephan Tiede, Michael Cantz, Annick Raas-Rothschild, et al.
Human Mutation|February 20, 2004
Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7)Gerbert A Jansen, Hans R Waterham, Ronald J A Wanders
Human Mutation|February 20, 2004
Gross Rearrangement Breakpoint Database (GRaBD)Shaun S Abeysinghe, Peter D Stenson, Michael Krawczak, et al.
Human Mutation|February 20, 2004
The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitisChelsee Hewitt, Derek McCormick, Gerry Linden, et al.
Human Mutation|February 20, 2004
APECED-causing mutations in AIRE reveal the functional domains of the proteinMaria Halonen, Hannele Kangas, Taina Rüppell, et al.
Human Mutation|February 20, 2004
Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activationAlessandra Fragale, Marco Tartaglia, Jie Wu, et al.
Pageof 655