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Human mutation

Showing results (371-380 of 6,541) with videos related to

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Human Mutation|February 6, 1998
Cys 634 mutations in the RET proto-oncogene in Spanish families affected by MEN 2AB Sánchez, G Antiñolo, E Navarro, et al.
Human Mutation|February 6, 1998
Splicing mutation of presenilin-1 gene for early-onset familial Alzheimer's diseaseS Sato, K Kamino, T Miki, et al.
Human Mutation|February 6, 1998
Déjérine-Sottas neuropathy associated with de novo S79P mutation of the peripheral myelin protein 22 (PMP22) geneS Bort, T Sevilla, J García-Planells, et al.
Human Mutation|February 6, 1998
Novel mutation in the SRY gene results in 46,XY gonadal dysgenesisF J Cameron, M J Smith, G L Warne, et al.
Human Mutation|February 6, 1998
Mutation analysis of the SOX9 gene in a patient with campomelic dysplasiaR M Hageman, F J Cameron, A H Sinclair
Human Mutation|February 6, 1998
Recurrence of the PKD1 nonsense mutation Q4041X in Spanish, Italian, and British familiesR Torra, C Badenas, B Peral, et al.
Human Mutation|February 6, 1998
Y55D mutation in ornithine transcarbamylase associated with late-onset hyperammonemia in a maleA Nishiyori, M Yoshino, Y Tananari, et al.
Human Mutation|February 6, 1998
Novel nonsense mutation (C-->A nt 10512) in exon 72 of dystrophin gene leading to exon skipping in a patient with a mild dystrophinopathyM A Melis, F Muntoni, M Cau, et al.
Human Mutation|February 6, 1998
Identification of two PAX3 mutations causing Waardenburg syndrome, one within the paired domain (M62V) and the other downstream of the homeodomain (Q282X)F A Hol, M P Geurds, C W Cremers, et al.
Human Mutation|February 6, 1998
G6PD Mount Sinai: a new severe hemolytic variant characterized by dual mutations at nucleotides 376G and 1159T (N126D)A Vlachos, B Westwood, J M Lipton, et al.
Pageof 655

Showing results (371-380 of 6,541) with videos related to

Sort By:
Pageof 655
Human Mutation|February 6, 1998
Cys 634 mutations in the RET proto-oncogene in Spanish families affected by MEN 2AB Sánchez, G Antiñolo, E Navarro, et al.
Human Mutation|February 6, 1998
Splicing mutation of presenilin-1 gene for early-onset familial Alzheimer's diseaseS Sato, K Kamino, T Miki, et al.
Human Mutation|February 6, 1998
Déjérine-Sottas neuropathy associated with de novo S79P mutation of the peripheral myelin protein 22 (PMP22) geneS Bort, T Sevilla, J García-Planells, et al.
Human Mutation|February 6, 1998
Novel mutation in the SRY gene results in 46,XY gonadal dysgenesisF J Cameron, M J Smith, G L Warne, et al.
Human Mutation|February 6, 1998
Mutation analysis of the SOX9 gene in a patient with campomelic dysplasiaR M Hageman, F J Cameron, A H Sinclair
Human Mutation|February 6, 1998
Recurrence of the PKD1 nonsense mutation Q4041X in Spanish, Italian, and British familiesR Torra, C Badenas, B Peral, et al.
Human Mutation|February 6, 1998
Y55D mutation in ornithine transcarbamylase associated with late-onset hyperammonemia in a maleA Nishiyori, M Yoshino, Y Tananari, et al.
Human Mutation|February 6, 1998
Novel nonsense mutation (C-->A nt 10512) in exon 72 of dystrophin gene leading to exon skipping in a patient with a mild dystrophinopathyM A Melis, F Muntoni, M Cau, et al.
Human Mutation|February 6, 1998
Identification of two PAX3 mutations causing Waardenburg syndrome, one within the paired domain (M62V) and the other downstream of the homeodomain (Q282X)F A Hol, M P Geurds, C W Cremers, et al.
Human Mutation|February 6, 1998
G6PD Mount Sinai: a new severe hemolytic variant characterized by dual mutations at nucleotides 376G and 1159T (N126D)A Vlachos, B Westwood, J M Lipton, et al.
Pageof 655