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Human mutation

Showing results (571-580 of 6,543) with videos related to

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Human Mutation|January 1, 1996
A novel mutation (S558X) causing choroideremiaL Beaufrère, S Tuffery, C Hamel, et al.
Human Mutation|January 1, 1996
Characterization of a partial pseudogene homologous to the adrenoleukodystrophy gene and application to mutation detectionA Braun, S Kammerer, H Ambach, et al.
Human Mutation|January 1, 1996
Identification of a mutation in the mitochondrial tRNA(Cys) gene associated with mitochondrial encephalopathyG Manfredi, E A Schon, E Bonilla, et al.
Human Mutation|January 1, 1996
Missense mutation A346P in the rhodopsin gene in one family with autosomal dominant retinitis pigmentosaS Borrego, B Sánchez, A Ruiz, et al.
Human Mutation|January 1, 1996
A new frameshift mutation 460delG in exon 4 of the cystic fibrosis transmembrane conductance regulator (CFTR) geneK Wagner, P Schneditz, W Rosenkranz
Human Mutation|January 1, 1996
Two new nonsense mutations (Q80X; Q389X) in patients with severe Hunter syndrome (mucopolysaccharidosis type II.)R Carrozzo, R Tonlorenzi, F Corsolini, et al.
Human Mutation|January 1, 1996
Identification of two sporadically derived mutations in the Von Hippel-Lindau geneR L Martin, I Walpole, J Goldblatt
Human Mutation|January 1, 1996
Molecular basis of congenital erythropoietic porphyria: mutations in the human uroporphyrinogen III synthase geneW Xu, K H Astrin, R J Desnick
Human Mutation|January 1, 1996
Deletion analysis of the simple tandem repeat loci physically linked to the spinal muscular atrophy locusF Capon, C Levato, E Bussaglia, et al.
Human Mutation|January 1, 1996
Splice site mutation causing deletion of exon 21 sequences from the pro alpha 2(I) chain of type I collagen in a patient with severe dentinogenesis imperfecta but very mild osteogenesis imperfectaA C Nicholls, J Oliver, S McCarron, et al.
Pageof 655

Showing results (571-580 of 6,543) with videos related to

Sort By:
Pageof 655
Human Mutation|January 1, 1996
A novel mutation (S558X) causing choroideremiaL Beaufrère, S Tuffery, C Hamel, et al.
Human Mutation|January 1, 1996
Characterization of a partial pseudogene homologous to the adrenoleukodystrophy gene and application to mutation detectionA Braun, S Kammerer, H Ambach, et al.
Human Mutation|January 1, 1996
Identification of a mutation in the mitochondrial tRNA(Cys) gene associated with mitochondrial encephalopathyG Manfredi, E A Schon, E Bonilla, et al.
Human Mutation|January 1, 1996
Missense mutation A346P in the rhodopsin gene in one family with autosomal dominant retinitis pigmentosaS Borrego, B Sánchez, A Ruiz, et al.
Human Mutation|January 1, 1996
A new frameshift mutation 460delG in exon 4 of the cystic fibrosis transmembrane conductance regulator (CFTR) geneK Wagner, P Schneditz, W Rosenkranz
Human Mutation|January 1, 1996
Two new nonsense mutations (Q80X; Q389X) in patients with severe Hunter syndrome (mucopolysaccharidosis type II.)R Carrozzo, R Tonlorenzi, F Corsolini, et al.
Human Mutation|January 1, 1996
Identification of two sporadically derived mutations in the Von Hippel-Lindau geneR L Martin, I Walpole, J Goldblatt
Human Mutation|January 1, 1996
Molecular basis of congenital erythropoietic porphyria: mutations in the human uroporphyrinogen III synthase geneW Xu, K H Astrin, R J Desnick
Human Mutation|January 1, 1996
Deletion analysis of the simple tandem repeat loci physically linked to the spinal muscular atrophy locusF Capon, C Levato, E Bussaglia, et al.
Human Mutation|January 1, 1996
Splice site mutation causing deletion of exon 21 sequences from the pro alpha 2(I) chain of type I collagen in a patient with severe dentinogenesis imperfecta but very mild osteogenesis imperfectaA C Nicholls, J Oliver, S McCarron, et al.
Pageof 655