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Human Mutation|August 31, 2002
Third international meeting on the genetic epidemiology of complex traits, April 4-6, 2002, Cambridge, UKSally John, Suzanne JenkinsHuman Mutation|August 31, 2002
Large Family With Maturity-Onset Diabetes of the Young and a Novel V121I Mutation in HNF4ACarole T Monney, Valérie Kaltenrieder, Pascal Cousin, et al.Human Mutation|August 31, 2002
Identification of seven novel mutations of F8C by DHPLCSabrina Frusconi, Ilaria Passerini, Francesca Girolami, et al.Human Mutation|January 17, 2002
Mutations and polymorphisms in the human ornithine transcarbamylase geneMendel Tuchman, Naser Jaleel, Hiroki Morizono, et al.Human Mutation|January 17, 2002
Polymorphisms and HNPCC: PMS2-MLH1 protein interactions diminished by single nucleotide polymorphismsZi Qiang Yuan, Bruce Gottlieb, Lenore K Beitel, et al.Human Mutation|January 17, 2002
Identification of seven novel missense mutations, two splice-site mutations, two microdeletions and a polymorphic amino acid substitution in the gene for ornithine transcarbamylase (OTC) in patients with OTC deficiencyConsuelo Climent, Vicente RubioHuman 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 KondrashovPageof 577