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Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis|April 1, 1995
Three novel mutations in the protein C (PROC) gene causing venous thrombosisD S Millar, D Bevan, A Chitolie, et al.
Human Mutation|November 11, 2010
Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutationsGuojie Zhang, Zhang Pei, Michael Krawczak, et al.
European Journal of Human Genetics : EJHG|October 6, 2016
Improving the in silico assessment of pathogenicity for compensated variantsLuisa Azevedo, Matthew Mort, Antonio C Costa, et al.
BMC Medicine|August 30, 2022
Genetic evidence for a causal relationship between type 2 diabetes and peripheral artery disease in both Europeans and East AsiansXuehao Xiu, Haoyang Zhang, Angli Xue, et al.
BMC Medical Genetics|October 30, 2012
Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletionsTanja Mußotter, Lan Kluwe, Josef Högel, et al.
Human Genetics|January 1, 1990
Cloning and sequence analysis of the human parathyroid hormone gene regionA Reis, W Hecht, R Gröger, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 4, 2005
Targeting c-Myc-activated genes with a correlation method: detection of global changes in large gene expression network dynamicsD Remondini, B O'Connell, N Intrator, et al.
Molecular Biology & Medicine|December 1, 1990
Characterization of pathological dystrophin transcripts from the lymphocytes of a muscular dystrophy carrierM Schloesser, R Slomski, M Wagner, et al.
Blood Cells, Molecules & Diseases|May 13, 2006
A novel Alu-mediated 61-kb deletion of the von Willebrand factor (VWF) gene whose breakpoints co-locate with putative matrix attachment regionsFei Xie, Xuefeng Wang, David N Cooper, et al.
Genes|October 11, 2017
Analysis of the Impact of Known SPINK1 Missense Variants on Pre-mRNA Splicing and/or mRNA Stability in a Full-Length Gene AssayHao Wu, Arnaud Boulling, David N Cooper, et al.
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