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Human Mutation|August 26, 1998
Five families with arginine 519-cysteine mutation in COL2A1: evidence for three distinct foundersJ F Bleasel, D Holderbaum, V Brancolini, et al.
Human Mutation|August 26, 1998
Detection of known and new mutations in the thiopurine S-methyltransferase gene by single-strand conformation polymorphism analysisC Spire-Vayron de la Moureyre, H Debuysère, N Sabbagh, et al.
Human Mutation|August 26, 1998
Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1U Finckh, A Kohlschütter, H Schäfer, et al.
Human Mutation|February 24, 2015
Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesisDelfien Syx, Tim Van Damme, Sofie Symoens, et al.
Human Mutation|July 29, 2022
Expanding the phenotypic variability of MORC2 gene mutations: From Charcot-Marie-Tooth disease to late-onset pure motor neuropathyArnaud Jacquier, Shams Ribault, Michel Mendes, et al.
Human Mutation|October 15, 2019
A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotypeAlfonsina Ballester-Lopez, Emma Koehorst, Miriam Almendrote, et al.
Human Mutation|August 31, 2018
A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletionGrazia Nardella, Grazia Visci, Vito Guarnieri, et al.
Human Mutation|August 18, 2018
RheoScale: A tool to aggregate and quantify experimentally determined substitution outcomes for multiple variants at individual protein positionsAbby M Hodges, Aron W Fenton, Larissa L Dougherty, et al.
Human Mutation|October 4, 2018
Is evolutionary loss our gain? The role of ACTN3 p.Arg577Ter (R577X) genotype in athletic performance, ageing, and diseasePeter J Houweling, Ioannis D Papadimitriou, Jane T Seto, et al.
Human Mutation|May 17, 2018
De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathyHazrat Belal, Mitsuko Nakashima, Hiroshi Matsumoto, et al.
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