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Human Mutation|January 29, 2003
Missense mutations in the DNA-binding region and termination codon in PAX6Lian-Yu Chao, Rajnikant Mishra, Louise C Strong, et al.Human Mutation|January 29, 2003
The Iranian Human Mutation Gene Bank: a data and sample resource for worldwide collaborative genetics researchHossein Najmabadi, Maryam Neishabury, Farhad Sahebjam, et al.Human Mutation|January 29, 2003
Phenotypic cellular characterization of an ataxia telangiectasia patient carrying a causal homozygous missense mutationSandra Angèle, Anthony Laugé, Marie Fernet, et al.Human Mutation|January 29, 2003
Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetranceNitin Udar, Svetlana Yelchits, Meenal Chalukya, et al.Human Mutation|January 29, 2003
NF1 gene analysis based on DHPLCAlessandro De Luca, Anna Buccino, Debora Gianni, et al.Human Mutation|January 29, 2003
BRCA2 germline mutations in Cypriot patients with familial breast/ovarian cancerAndreas Hadjisavvas, Elpida Charalambous, Adamos Adamou, et al.Human Mutation|September 27, 2002
Pyrosequencing for detection of mutations in the connexin 26 (GJB2) and mitochondrial 12S RNA (MTRNR1) genes associated with hereditary hearing lossAlessandro Ferraris, Eric Rappaport, Rosa Santacroce, et al.Human Mutation|September 27, 2002
Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish originSylvain Hanein, Isabelle Perrault, Päivi Olsen, et al.Human Mutation|April 4, 2003
Characterization of mutations in severe methylenetetrahydrofolate reductase deficiency reveals an FAD-responsive mutationSahar Sibani, Daniel Leclerc, Ilan S Weisberg, et al.Human Mutation|April 4, 2003
IVS10-6T>G, an ancient ATM germline mutation linked with breast cancerAnnegien Broeks, Jos H M Urbanus, Peter de Knijff, et al.Pageof 574