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Human Mutation|December 26, 2001
Seven novel MLH1 and MSH2 germline mutations in hereditary nonpolyposis colorectal cancerStefan Krüger, Jens Plaschke, Steffen Pistorius, et al.Human Mutation|July 19, 2002
Assessing the relative importance of the biophysical properties of amino acid substitutions associated with human genetic diseaseBent N Terp, David N Cooper, Inge T Christensen, et al.Human Mutation|July 19, 2002
Novel mutations of APOB cause ApoB truncations undetectable in plasma and familial hypobetalipoproteinemiaPin Yue, Bo Yuan, Daniela S Gerhard, et al.Human Mutation|July 19, 2002
An amplification and ligation-based method to scan for unknown mutations in DNAYuzhi Zhang, Manjit Kaur, Brendan D Price, et al.Human Mutation|July 12, 2002
A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairmentGuy Van Camp, Paul J Coucke, Jiro Akita, et al.Human Mutation|July 12, 2002
Hereditary non-polyposis colorectal cancer (HNPCC): phenotype-genotype correlation between patients with and without identified mutationMarie Luise Bisgaard, Anne Charlotte Jäger, Torben Myrhøj, et al.Human Mutation|August 31, 2002
Analysis of breast cancer susceptibility genes BRCA1 and BRCA2 in Thai familial and isolated early-onset breast and ovarian cancerPimpicha Patmasiriwat, Kris Bhothisuwan, Olga M Sinilnikova, et al.Human Mutation|August 31, 2002
Molecular analysis of 30 mucopolysaccharidosis type I patients: evaluation of the mutational spectrum in Italian population and identification of 13 novel mutationsN Venturi, A Rovelli, R Parini, et al.Human Mutation|August 31, 2002
Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patientsMirella Filocamo, Raffaella Mazzotti, Marina Stroppiano, et al.Human Mutation|August 31, 2002
Germline mutations of BRCA1 and BRCA2 in Korean breast and/or ovarian cancer familiesHio Chung Kang, Il-Jin Kim, Jae-Hyun Park, et al.Pageof 575