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Human Mutation|December 19, 2001
Erratum: Detection of six novel FBN1 mutations in British patients affected by Marfan syndromeP Comeglio, A L Evans, G W Brice, et al.Human Mutation|December 19, 2001
Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenitaY H Zhang, B L Huang, K Anyane-Yeboa, et al.Human Mutation|December 19, 2001
Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairmentN López-Bigas, S Melchionda, R de Cid, et al.Human Mutation|December 19, 2001
Identification and characterization of four novel large deletions in the human neurofibromatosis type 1 (NF1) geneL J Fang, D Vidaud, M Vidaud, et al.Human Mutation|December 26, 2001
Quantification of single nucleotide polymorphisms: a novel method that combines primer extension assay and capillary electrophoresisGábor Mátyás, Cecilia Giunta, Beat Steinmann, et al.Human Mutation|December 26, 2001
Mutation analysis of the FAH gene in Israeli patients with tyrosinemia type IOrly N Elpeleg, Avraham Shaag, Elizabeth Holme, et al.Human Mutation|August 31, 2002
SNP databases and pharmacogenetics: great start, but a long way to goSharon Marsh, Pui Kwok, Howard L McLeodHuman Mutation|August 31, 2002
Mutational analysis of patients with the diagnosis of choroideremiaKerry E McTaggart, Mai Tran, Dean Y Mah, et al.Human Mutation|August 31, 2002
Population genetic implications from DNA polymorphism in random human genomic sequencesPeidong Shen, Molly Buchholz, Raphael Sung, et al.Human Mutation|August 31, 2002
Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragmentsFederica Casilli, Zorika Christiana Di Rocco, Sophie Gad, et al.Pageof 577