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Human genetics

Showing results (791-800 of 9,569) with videos related to

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Human Genetics|December 22, 1999
The identical 5' splice-site acceptor mutation in five attenuated APC families from Newfoundland demonstrates a founder effectL Spirio, J Green, J Robertson, et al.
Human Genetics|December 22, 1999
Haplosufficiency of the melancortin-4 receptor gene in individuals with deletions of 18qJ D Cody, X T Reveles, D E Hale, et al.
Human Genetics|December 22, 1999
Absence of the deltaccr5 mutation in indigenous populations of the Brazilian AmazonA P Leboute, M W de Carvalho, A L Simões
Human Genetics|December 22, 1999
Complex patterns of intragenic polymorphism at the PDGFA locusD T Bonthron, S J Smith, R Campbell
Human Genetics|December 22, 1999
Autosomal recessive chronic granulomatous disease caused by novel mutations in NCF-2, the gene encoding the p67-phox component of phagocyte NADPH oxidaseD Noack, J Rae, A R Cross, et al.
Human Genetics|December 22, 1999
Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemiaH Matsson, J Klar, N Draptchinskaia, et al.
Human Genetics|January 11, 2003
Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell typeQing Wang, Gilles Montmain, Eric Ruano, et al.
Human Genetics|January 11, 2003
Genetic heterogeneity of FG syndrome: a fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian familyGiulio Piluso, Massimo Carella, Michele D'Avanzo, et al.
Human Genetics|January 11, 2003
Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one familyArjan P M de Brouwer, Ronald J E Pennings, Marjolijn Roeters, et al.
Human Genetics|January 11, 2003
Two alternative exons can result from activation of the cryptic splice acceptor site deep within intron 2 of the dystrophin gene in a patient with as yet asymptomatic dystrophinopathyMariko Yagi, Yasuhiro Takeshima, Hiroko Wada, et al.
Pageof 957

Showing results (791-800 of 9,569) with videos related to

Sort By:
Pageof 957
Human Genetics|December 22, 1999
The identical 5' splice-site acceptor mutation in five attenuated APC families from Newfoundland demonstrates a founder effectL Spirio, J Green, J Robertson, et al.
Human Genetics|December 22, 1999
Haplosufficiency of the melancortin-4 receptor gene in individuals with deletions of 18qJ D Cody, X T Reveles, D E Hale, et al.
Human Genetics|December 22, 1999
Absence of the deltaccr5 mutation in indigenous populations of the Brazilian AmazonA P Leboute, M W de Carvalho, A L Simões
Human Genetics|December 22, 1999
Complex patterns of intragenic polymorphism at the PDGFA locusD T Bonthron, S J Smith, R Campbell
Human Genetics|December 22, 1999
Autosomal recessive chronic granulomatous disease caused by novel mutations in NCF-2, the gene encoding the p67-phox component of phagocyte NADPH oxidaseD Noack, J Rae, A R Cross, et al.
Human Genetics|December 22, 1999
Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemiaH Matsson, J Klar, N Draptchinskaia, et al.
Human Genetics|January 11, 2003
Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell typeQing Wang, Gilles Montmain, Eric Ruano, et al.
Human Genetics|January 11, 2003
Genetic heterogeneity of FG syndrome: a fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian familyGiulio Piluso, Massimo Carella, Michele D'Avanzo, et al.
Human Genetics|January 11, 2003
Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one familyArjan P M de Brouwer, Ronald J E Pennings, Marjolijn Roeters, et al.
Human Genetics|January 11, 2003
Two alternative exons can result from activation of the cryptic splice acceptor site deep within intron 2 of the dystrophin gene in a patient with as yet asymptomatic dystrophinopathyMariko Yagi, Yasuhiro Takeshima, Hiroko Wada, et al.
Pageof 957