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Human mutation

Showing results (551-560 of 6,543) with videos related to

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Human Mutation|January 1, 1997
Screening of 229 family cancer patients for a germline estrogen receptor gene (ESR) base mutationM Zelada-Hedman, A L Børresen-Dale, A Lindblom
Human Mutation|January 1, 1997
delta-Thalassemic phenotype due to two "novel" delta-globin gene mutations: CD11[GTC-->GGC (A8)-HbA2-Pylos] and CD 85[TTT-->TCT(F1)-HbA2-Etolia]O Drakoulakou, E Papapanagiotou, A Loutradi-Anagnostou, et al.
Human Mutation|January 1, 1997
Identification of four novel mutations in the cystic fibrosis transmembrane conductance regulator gene: E664X, 2113delA, 306delTAGA, and delta M1140C Clavel, F Pennaforte, F Pigeon, et al.
Human Mutation|January 1, 1997
Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathyB S Shastry, J F Hejtmancik, M T Trese
Human Mutation|January 1, 1997
Ornithine transcarbamylase deficiency: ten new mutations and high proportion of de novo mutations in heterozygous femalesE Oppliger Leibundgut, S Liechti-Gallati, J P Colombo, et al.
Human Mutation|January 1, 1997
Mutation pattern in the Bruton's tyrosine kinase gene in 26 unrelated patients with X-linked agammaglobulinemiaI Vorechovský, L Luo, J M Hertz, et al.
Human Mutation|January 1, 1997
(G586V) substitutions in the alpha 1 and alpha 2 chains of collagen I: effect of alpha-chain stoichiometry on the phenotype of osteogenesis imperfecta?A M Lund, F Skovby, M Schwartz
Human Mutation|January 1, 1997
Similar mutant frequencies observed between pairs of monozygotic twinsJ Curry, G Bebb, J Moffat, et al.
Human Mutation|January 1, 1997
New nonsense mutation in the breast cancer-1 gene in a French site-specific breast cancer familyV Laplace-Marieze, N Presneau, C Girodet, et al.
Human Mutation|January 1, 1997
Recurrent COL3A1 mutation results in EDS IV or familial aneurysmsD W Anderson, S Thakker-Varia, C A Stolle
Pageof 655

Showing results (551-560 of 6,543) with videos related to

Sort By:
Pageof 655
Human Mutation|January 1, 1997
Screening of 229 family cancer patients for a germline estrogen receptor gene (ESR) base mutationM Zelada-Hedman, A L Børresen-Dale, A Lindblom
Human Mutation|January 1, 1997
delta-Thalassemic phenotype due to two "novel" delta-globin gene mutations: CD11[GTC-->GGC (A8)-HbA2-Pylos] and CD 85[TTT-->TCT(F1)-HbA2-Etolia]O Drakoulakou, E Papapanagiotou, A Loutradi-Anagnostou, et al.
Human Mutation|January 1, 1997
Identification of four novel mutations in the cystic fibrosis transmembrane conductance regulator gene: E664X, 2113delA, 306delTAGA, and delta M1140C Clavel, F Pennaforte, F Pigeon, et al.
Human Mutation|January 1, 1997
Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathyB S Shastry, J F Hejtmancik, M T Trese
Human Mutation|January 1, 1997
Ornithine transcarbamylase deficiency: ten new mutations and high proportion of de novo mutations in heterozygous femalesE Oppliger Leibundgut, S Liechti-Gallati, J P Colombo, et al.
Human Mutation|January 1, 1997
Mutation pattern in the Bruton's tyrosine kinase gene in 26 unrelated patients with X-linked agammaglobulinemiaI Vorechovský, L Luo, J M Hertz, et al.
Human Mutation|January 1, 1997
(G586V) substitutions in the alpha 1 and alpha 2 chains of collagen I: effect of alpha-chain stoichiometry on the phenotype of osteogenesis imperfecta?A M Lund, F Skovby, M Schwartz
Human Mutation|January 1, 1997
Similar mutant frequencies observed between pairs of monozygotic twinsJ Curry, G Bebb, J Moffat, et al.
Human Mutation|January 1, 1997
New nonsense mutation in the breast cancer-1 gene in a French site-specific breast cancer familyV Laplace-Marieze, N Presneau, C Girodet, et al.
Human Mutation|January 1, 1997
Recurrent COL3A1 mutation results in EDS IV or familial aneurysmsD W Anderson, S Thakker-Varia, C A Stolle
Pageof 655