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Human mutation

Showing results (471-480 of 6,541) with videos related to

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Human Mutation|October 26, 1999
Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosisY Niida, N Lawrence-Smith, A Banwell, et al.
Human Mutation|March 1, 2000
Three novel missense mutations in the glucokinase gene (G80S; E221K; G227C) in Italian subjects with maturity-onset diabetes of the young (MODY). Mutations in brief no. 162. OnlineB Guazzini, D Gaffi, D Mainieri, et al.
Human Mutation|April 17, 1999
Analysis of CpG C-to-T mutations in neurofibromatosis type 1. Mutations in brief no. 129. OnlineS Krkljus, C R Abernathy, J S Johnson, et al.
Human Mutation|May 25, 1999
Congenital hyperinsulinism: molecular basis of a heterogeneous diseaseT Meissner, B Beinbrech, E Mayatepek
Human Mutation|May 25, 1999
Cystathionine beta-synthase mutations in homocystinuriaJ P Kraus, M Janosík, V Kozich, et al.
Human Mutation|May 25, 1999
Two novel mutations of the FMO3 gene in a proband with trimethylaminuriaB R Akerman, S Forrest, L Chow, et al.
Human Mutation|May 25, 1999
Six novel beta-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosisC M Silva, M H Severini, A Sopelsa, et al.
Human Mutation|May 25, 1999
Mitochondrial DNA variations in patients with Type 2 (non-insulin dependent) diabetes mellitus and a Welsh control population. Mutation in brief no. 239. OnlineE J Sherratt, A W Thomas, J W Gagg, et al.
Human Mutation|July 29, 1999
Compound deletion of the rhoGAP C1 and V2 vasopressin receptor genes in a patient with nephrogenic diabetes insipidusT Schöneberg, K Pasel, V von Baehr, et al.
Human Mutation|July 29, 1999
A novel nonsense mutation, S434X, in exon 9 of the cystic fibrosis transmembrane conductance regulator (CFTR) geneH Mittre, A Bahlous, N Leporrier, et al.
Pageof 655

Showing results (471-480 of 6,541) with videos related to

Sort By:
Pageof 655
Human Mutation|October 26, 1999
Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosisY Niida, N Lawrence-Smith, A Banwell, et al.
Human Mutation|March 1, 2000
Three novel missense mutations in the glucokinase gene (G80S; E221K; G227C) in Italian subjects with maturity-onset diabetes of the young (MODY). Mutations in brief no. 162. OnlineB Guazzini, D Gaffi, D Mainieri, et al.
Human Mutation|April 17, 1999
Analysis of CpG C-to-T mutations in neurofibromatosis type 1. Mutations in brief no. 129. OnlineS Krkljus, C R Abernathy, J S Johnson, et al.
Human Mutation|May 25, 1999
Congenital hyperinsulinism: molecular basis of a heterogeneous diseaseT Meissner, B Beinbrech, E Mayatepek
Human Mutation|May 25, 1999
Cystathionine beta-synthase mutations in homocystinuriaJ P Kraus, M Janosík, V Kozich, et al.
Human Mutation|May 25, 1999
Two novel mutations of the FMO3 gene in a proband with trimethylaminuriaB R Akerman, S Forrest, L Chow, et al.
Human Mutation|May 25, 1999
Six novel beta-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosisC M Silva, M H Severini, A Sopelsa, et al.
Human Mutation|May 25, 1999
Mitochondrial DNA variations in patients with Type 2 (non-insulin dependent) diabetes mellitus and a Welsh control population. Mutation in brief no. 239. OnlineE J Sherratt, A W Thomas, J W Gagg, et al.
Human Mutation|July 29, 1999
Compound deletion of the rhoGAP C1 and V2 vasopressin receptor genes in a patient with nephrogenic diabetes insipidusT Schöneberg, K Pasel, V von Baehr, et al.
Human Mutation|July 29, 1999
A novel nonsense mutation, S434X, in exon 9 of the cystic fibrosis transmembrane conductance regulator (CFTR) geneH Mittre, A Bahlous, N Leporrier, et al.
Pageof 655