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Annals of Human Genetics|February 26, 2008
Exon deletion in the non-catalytic domain of eIF2Bepsilon due to a splice site mutation leads to infantile forms of CACH/VWM with severe decrease of eIF2B GEF activityL Horzinski, C Gonthier, D Rodriguez, et al.Annals of Human Genetics|February 26, 2008
A mutation analysis of the phenylalanine hydroxylase (PAH) gene in the Israeli populationD Bercovich, A Elimelech, T Yardeni, et al.Annals of Human Genetics|February 12, 2008
Genomewide linkage scan for combined obesity phenotypes using principal component analysisL-N He, Y-J Liu, P Xiao, et al.Annals of Human Genetics|March 8, 2008
Two-stage group sequential robust tests in family-based association studies: controlling type I errorLihan K Yan, Gang Zheng, Zhaohai LiAnnals of Human Genetics|March 8, 2008
Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia databaseS E A Leigh, A H Foster, R A Whittall, et al.Annals of Human Genetics|February 14, 2008
Hypomutability at the polyadenine tract in SMN intron 3 shows the invariability of the a-SMN protein structure, T H Sasongko, S Yusoff, et al.Annals of Human Genetics|January 22, 2008
Genetic Polymorphism of CYP2C19 gene in the Stanislas cohort. A link with inflammationC Bertrand-Thiébault, H Berrahmoune, A Thompson, et al.Annals of Human Genetics|January 22, 2008
Study of regions of extended homozygosity provides a powerful method to explore haplotype structure of human populationsD Curtis, A E Vine, J KnightAnnals of Human Genetics|May 1, 1976
Evidence for the assignment of the loci AK1, AK3 and ACONs to chromosome 9 in manS Povey, C A Slaughter, D E Wilson, et al.Annals of Human Genetics|March 26, 2014
Effective variant detection by targeted deep sequencing of DNA pools: an example from Parkinson's diseaseLasse Pihlstrøm, Aina Rengmark, Kari Anne Bjørnarå, et al.Pageof 231