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Human Mutation|March 26, 2011
An informatics project and online "Knowledge Centre" supporting modern genotype-to-phenotype researchAdam J Webb, Gudmundur A Thorisson, Anthony J Brookes, et al.Human Mutation|April 23, 2019
A2ML1 and otitis media: novel variants, differential expression, and relevant pathwaysEric D Larson, Jose Pedrito M Magno, Matthew J Steritz, et al.Human Mutation|May 28, 2019
First estimate of the scale of canonical 5' splice site GT>GC variants capable of generating wild-type transcriptsJin-Huan Lin, Xin-Ying Tang, Arnaud Boulling, et al.Human Mutation|May 28, 2019
Meta-analysis of massively parallel reporter assays enables prediction of regulatory function across cell typesAnat Kreimer, Zhongxia Yan, Nadav Ahituv, et al.Human Mutation|May 28, 2019
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classificationMichael T Parsons, Emma Tudini, Hongyan Li, et al.Human Mutation|June 24, 2019
Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosisNicolas Chatron, Kevin Cassinari, Olivier Quenez, et al.Human Mutation|January 1, 1997
Rapid characterization of the variable length polythymidine tract in the cystic fibrosis (CFTR) gene: association of the 5T allele with selected CFTR mutations and its incidence in atypical sinopulmonary diseaseK J Friedman, R A Heim, M R Knowles, et al.Human Mutation|January 1, 1997
Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemiaI N Day, R A Whittall, S D O'Dell, et al.Human Mutation|January 1, 1997
Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: report of 12 novel mutationsC Hayward, M E Porteous, D J BrockHuman Mutation|January 1, 1997
Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS geneU Felbor, H Schilling, B H WeberPageof 576