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Current Genomics|July 14, 2020
The Experimentally Obtained Functional Impact Assessments of 5' Splice Site GT'GC Variants Differ Markedly from Those PredictedJian-Min Chen, Jin-Huan Lin, Emmanuelle Masson, et al.Human Molecular Genetics|August 7, 2015
Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patternsTychele N Turner, Christopher Douville, Dewey Kim, et al.Human Mutation|November 5, 2013
Analysis of crossover breakpoints yields new insights into the nature of the gene conversion events associated with large NF1 deletions mediated by nonallelic homologous recombinationKathrin Bengesser, Julia Vogt, Tanja Mussotter, et al.Database : the Journal of Biological Databases and Curation|June 10, 2016
Mining clinical attributes of genomic variants through assisted literature curation in EgasSérgio Matos, David Campos, Renato Pinho, et al.Human Genomics|February 23, 2024
Meta-analysis of 46,000 germline de novo mutations linked to human inherited diseaseMónica Lopes-Marques, Matthew Mort, João Carneiro, et al.Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation|July 15, 2015
Haploidentical Hematopoietic Stem Cell Transplantation as a Platform for Post-Transplantation Cellular TherapyPiyanuch Kongtim, Dean A Lee, Laurence J N Cooper, et al.Human Mutation|September 27, 2006
Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicingMichael Krawczak, Nick S T Thomas, Bernd Hundrieser, et al.Human Mutation|December 29, 1999
Human gene mutation database-a biomedical information and research resourceM Krawczak, E V Ball, I Fenton, et al.Journal of Neuroscience Research|November 1, 1996
Intraspinal injection of embryonic neurons maintains muscle phenotype in adult chronic spinal ratsR N Cooper, D Feraboli-Lohnherr, G Butler-Browne, et al.Human Genetics|August 1, 1992
Omission of exon 12 in cystic fibrosis transmembrane conductance regulator (CFTR) gene transcriptsR Slomski, M Schloesser, L P Berg, et al.Pageof 124