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Human mutation

Showing results (411-420 of 6,541) with videos related to

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Human Mutation|November 25, 2003
POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletionsAlessio Di Fonzo, Andreina Bordoni, Marco Crimi, et al.
Human Mutation|December 26, 2003
Allelic genes of blood group antigens: a source of human mutations and cSNPs documented in the Blood Group Antigen Gene Mutation DatabaseOlga O Blumenfeld, Santosh K Patnaik
Human Mutation|December 26, 2003
Interaction between trypsinogen isoforms in genetically determined pancreatitis: mutation E79K in cationic trypsin (PRSS1) causes increased transactivation of anionic trypsinogen (PRSS2)Niels Teich, Cédric Le Maréchal, Zoltán Kukor, et al.
Human Mutation|December 26, 2003
Variants in TNFRSF5 locus and association analysis with Hepatitis B virus (HBV) infectionGangqiao Zhou, Yun Zhai, Xiaojia Dong, et al.
Human Mutation|October 1, 2003
Genetic variation in a haplotype block spanning IDE influences Alzheimer diseaseJonathan A Prince, Lars Feuk, Harvest F Gu, et al.
Human Mutation|October 1, 2003
Tau (MAPT) mutation Arg406Trp presenting clinically with Alzheimer disease does not share a common founder in Western EuropeR Rademakers, B Dermaut, K Peeters, et al.
Human Mutation|October 1, 2003
Deletion mapping in Alport syndrome and Alport syndrome-diffuse leiomyomatosis reveals potential mechanisms of visceral smooth muscle overgrowthBeth K Thielen, David F Barker, Raoul D Nelson, et al.
Human Mutation|October 1, 2003
Constitutional NF1 mutations in neurofibromatosis 1 patients with malignant peripheral nerve sheath tumorsLan Kluwe, Reinhard E Friedrich, Matthias Peiper, et al.
Human Mutation|October 1, 2003
BUB1 infrequently mutated in human breast carcinomasAnita Langerød, Maria Strømberg, Koei Chin, et al.
Human Mutation|January 15, 2004
Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4Uta Rundshagen, Christine Zühlke, Sven Opitz, et al.
Pageof 655

Showing results (411-420 of 6,541) with videos related to

Sort By:
Pageof 655
Human Mutation|November 25, 2003
POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletionsAlessio Di Fonzo, Andreina Bordoni, Marco Crimi, et al.
Human Mutation|December 26, 2003
Allelic genes of blood group antigens: a source of human mutations and cSNPs documented in the Blood Group Antigen Gene Mutation DatabaseOlga O Blumenfeld, Santosh K Patnaik
Human Mutation|December 26, 2003
Interaction between trypsinogen isoforms in genetically determined pancreatitis: mutation E79K in cationic trypsin (PRSS1) causes increased transactivation of anionic trypsinogen (PRSS2)Niels Teich, Cédric Le Maréchal, Zoltán Kukor, et al.
Human Mutation|December 26, 2003
Variants in TNFRSF5 locus and association analysis with Hepatitis B virus (HBV) infectionGangqiao Zhou, Yun Zhai, Xiaojia Dong, et al.
Human Mutation|October 1, 2003
Genetic variation in a haplotype block spanning IDE influences Alzheimer diseaseJonathan A Prince, Lars Feuk, Harvest F Gu, et al.
Human Mutation|October 1, 2003
Tau (MAPT) mutation Arg406Trp presenting clinically with Alzheimer disease does not share a common founder in Western EuropeR Rademakers, B Dermaut, K Peeters, et al.
Human Mutation|October 1, 2003
Deletion mapping in Alport syndrome and Alport syndrome-diffuse leiomyomatosis reveals potential mechanisms of visceral smooth muscle overgrowthBeth K Thielen, David F Barker, Raoul D Nelson, et al.
Human Mutation|October 1, 2003
Constitutional NF1 mutations in neurofibromatosis 1 patients with malignant peripheral nerve sheath tumorsLan Kluwe, Reinhard E Friedrich, Matthias Peiper, et al.
Human Mutation|October 1, 2003
BUB1 infrequently mutated in human breast carcinomasAnita Langerød, Maria Strømberg, Koei Chin, et al.
Human Mutation|January 15, 2004
Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4Uta Rundshagen, Christine Zühlke, Sven Opitz, et al.
Pageof 655