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Human Mutation|March 10, 2001
Eosinophilic peroxidase deficiency: Identification of a point mutation (D648N) and prediction of structural changesT Nakagawa, T Ikemoto, T Takeuchi, et al.Human Mutation|April 24, 2001
LDL receptor cDNA sequence analysis in familial hypercholesterolemia patients: 5 novel mutations with high prevalence in families originating from southern ItalyR Liguori, A M Bianco, A Argiriou, et al.Human Mutation|June 30, 2000
The spectrum of patched mutations in a collection of Australian basal cell carcinomasT Evans, W Boonchai, S Shanley, et al.Human Mutation|June 30, 2000
Mutational analysis of BRCA1 and BRCA2 genes in Chinese ovarian cancer identifies 6 novel germline mutationsU S Khoo, H Y Ngan, A N Cheung, et al.Human Mutation|June 30, 2000
Enzymatic mutation detection (EMD) of novel mutations (R565X and R1523X) in the FBN1 gene of patients with Marfan syndrome using T4 endonuclease VIIR Youil, T J Toner, E Bull, et al.Human Mutation|June 22, 2000
Novel frameshift mutations in the RP2 gene and polymorphic variantsD L Thiselton, I Zito, C Plant, et al.Human Mutation|June 22, 2000
Survey of the coding region of the HERG gene in long QT syndrome reveals six novel mutations and an amino acid polymorphism with possible phenotypic effectsP Laitinen, H Fodstad, K Piippo, et al.Human Mutation|June 1, 2001
Denaturing high-performance liquid chromatography: A reviewW Xiao, P J OefnerHuman Mutation|June 1, 2001
Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophiesE Paloma, A Martínez-Mir, L Vilageliu, et al.Pageof 574