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Interface Focus|December 21, 2020
A porous circulation model of the human brain for <i>in silico</i> clinical trials in ischaemic strokeT I Józsa, R M Padmos, N Samuels, et al.Human Molecular Genetics|November 1, 1995
Molecular analysis of de novo germline mutations in the von Hippel-Lindau disease geneF M Richards, S J Payne, B Zbar, et al.Human Molecular Genetics|September 1, 1996
A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagenA J Richards, J R Yates, R Williams, et al.Colorectal Disease : the Official Journal of the Association of Coloproctology of Great Britain and Ireland|May 15, 2009
Hereditary mixed polyposis syndrome due to a BMPR1A mutationJ M O'Riordan, D O'Donoghue, A Green, et al.Lupus|August 30, 2003
The prevalence and clinical significance of autoantibodies to plasminogen activator inhibitor 1 in systemic lupus erythematosusR L Bates, S J Payne, S L Drury, et al.Human Molecular Genetics|March 21, 1998
Female germline mosaicism in tuberous sclerosis confirmed by molecular genetic analysisJ R Yates, I van Bakel, T Sepp, et al.Journal of Medical Genetics|April 1, 1996
Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutationsE R Maher, A R Webster, F M Richards, et al.Scientific Reports|June 17, 2021
Simulation-based optimisation to quantify heterogeneity of specific ventilation and perfusion in the lung by the Inspired Sinewave TestM C Tran, V Nguyen, R Bruce, et al.Eye (London, England)|January 1, 1994
Stickler syndrome: correlation between vitreoretinal phenotypes and linkage to COL 2A1M P Snead, S J Payne, D E Barton, et al.Human Molecular Genetics|April 1, 1994
Direct, non-radioactive detection of mutations in multiple endocrine neoplasia type 2A familiesR McMahon, L M Mulligan, C S Healey, et al.Pageof 10