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Human Mutation|April 12, 2011
Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employedStephanie Hicks, David A Wheeler, Sharon E Plon, et al.Human Mutation|January 1, 1997
Mutations and polymorphisms in the tuberous sclerosis complex gene on chromosome 16K S Au, J A Rodriguez, E Rodriguez, et al.Human Mutation|January 1, 1997
Identification of common polymorphisms in the coding sequence of the human MSH receptor (MCIR) with possible biological effectsS V Koppula, L S Robbins, D Lu, et al.Human Mutation|January 1, 1997
Mutations and DNA diagnoses of classical citrullinemiaH Kakinoki, K Kobayashi, H Terazono, et al.Human Mutation|January 1, 1997
Novel HEXA mutation in a Bedouin Tay-Sachs patient associated with exon skipping and reduced transcript levelL Drucker, A Golan, D J Boles, et al.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 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 TreseHuman 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 SchwartzHuman Mutation|January 1, 1997
Similar mutant frequencies observed between pairs of monozygotic twinsJ Curry, G Bebb, J Moffat, et al.Pageof 574