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Human Mutation|August 8, 2019
Dominant-negative SOX9 mutations in campomelic dysplasiaFabiana Csukasi, Ivan Duran, Wenjuan Zhang, et al.Human Mutation|November 9, 2018
In silico and in vivo models for Qatari-specific classical homocystinuria as basis for development of novel therapiesHesham M Ismail, Navaneethakrishnan Krishnamoorthy, Nader Al-Dewik, et al.Human Mutation|September 24, 2019
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activationNicole Weisschuh, Marc Sturm, Britta Baumann, et al.Human Mutation|July 28, 2019
Pitfalls in the interpretation of CFTR variants in the context of incidental findingsAgathe Boussaroque, Anne Bergougnoux, Caroline Raynal, et al.Human Mutation|July 26, 2019
Ten years of DICER1 mutations: Provenance, distribution, and associated phenotypesLeanne de Kock, Mona K Wu, William D FoulkesHuman Mutation|July 26, 2019
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe RegistryArnold J J Reuser, Ans T van der Ploeg, Yin-Hsiu Chien, et al.Human Mutation|February 5, 2008
In vitro functional studies of naturally occurring pathogenic PRKAR1A mutations that are not subject to nonsense mRNA decayElizabeth L Greene, Anelia D Horvath, Maria Nesterova, et al.Human Mutation|May 17, 2008
Further evidence for allelic heterogeneity in Hartnup disorderDimitar N Azmanov, Sonja Kowalczuk, Helen Rodgers, et al.Human Mutation|May 20, 2008
Thailand mutation and variation database (ThaiMUT)Uttapong Ruangrit, Metawee Srikummool, Anunchai Assawamakin, et al.Human Mutation|May 20, 2008
Germline and somatic NF1 gene mutations in plexiform neurofibromasMeena Upadhyaya, Gill Spurlock, Bisma Monem, et al.Pageof 583