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Human Mutation|October 23, 2001
Molecular genetics of familial hypercholesterolemia in Spain: Ten novel LDLR mutations and population analysisA B García-García, J T Real, O Puig, et al.Human Mutation|December 19, 2001
Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenitaJ K Phelan, E R McCabeHuman Mutation|December 19, 2001
ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlationsS Kemp, A Pujol, H R Waterham, et al.Human Mutation|December 19, 2001
Absence of deafness-associated connexin-26 (GJB2) gene mutations in the Omani populationM Simsek, N Al-Wardy, A Al-Khayat, et al.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.Pageof 574