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Human Mutation|May 2, 2000
Characterization of the CYP21 gene 5' flanking region in patients affected by 21-OH deficiencyA Bobba, E Marra, P Lattanzio, et al.Human Mutation|May 2, 2000
Mutation analysis in 36 unrelated Spanish subjects with familial hypercholesterolemia: identification of 3 novel mutations in the LDL receptor geneP Mozas, A Cenarro, F Civeira, et al.Human Mutation|December 24, 2002
Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO/IKKgamma dene deletionTiziana Bardaro, Geppino Falco, Angela Sparago, et al.Human Mutation|December 24, 2002
Direct estimates of human per nucleotide mutation rates at 20 loci causing Mendelian diseasesAlexey S KondrashovHuman Mutation|December 24, 2002
Meta-analysis of indels causing human genetic disease: mechanisms of mutagenesis and the role of local DNA sequence complexityNadia A Chuzhanova, Emmanuel J Anassis, Edward V Ball, et al.Human Mutation|December 24, 2002
Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders?Claudia Rubie, Peter Lichtner, Jutta Gärtner, et al.Human Mutation|December 24, 2002
Dynamics of CAG repeat loci revealed by the analysis of their variabilityAida M Andrés, Oscar Lao, Marta Soldevila, et al.Human Mutation|December 24, 2002
ATM mutations on distinct SNP and STR haplotypes in ataxia-telangiectasia patients of differing ethnicities reveal ancestral founder effectsCatarina Campbell, Midori Mitui, Laura Eng, et al.Human Mutation|December 24, 2002
BRCA1 germline mutations in Indian familial breast cancerMani T Valarmathi, Agarwal A, Suryanarayana S V Deo, et al.Human Mutation|December 24, 2002
Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1Kathrin Huehne, Vladimir Benes, Christian Thiel, et al.Pageof 574