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Human Mutation|February 28, 2022
An expanded phenotype centric benchmark of variant prioritisation toolsDenise Anderson, Timo LassmannHuman Mutation|February 28, 2022
ModelMatcher: A scientist-centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease researchJ Michael Harnish, Lucian Li, Sanja Rogic, et al.Human Mutation|June 14, 2018
Further delineation of Malan syndromeManuela Priolo, Denny Schanze, Katrin Tatton-Brown, et al.Human Mutation|May 5, 2018
Mutations and common variants in the human arginase 1 (ARG1) gene: Impact on patients, diagnostics, and protein structure considerationsCarmen Diez-Fernandez, Véronique Rüfenacht, Corinne Gemperle, 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.Human Mutation|December 29, 1999
Sequence variation database project at the European Bioinformatics InstituteH Lehväslaiho, E Stupka, M AshburnerHuman Mutation|December 29, 1999
Online Mendelian Inheritance in Man (OMIM)A Hamosh, A F Scott, J Amberger, et al.Human Mutation|December 29, 1999
MuStaR and other software for locus-specific mutation databasesA F Brown, M A McKieHuman Mutation|December 29, 1999
Erratum: analysis of DNA elements that modulate myosin VIIa expression in humansD J Orten, M D Weston, P M Kelley, et al.Human Mutation|December 29, 1999
Mutations of the factor VIII gene in thai hemophilia A patientsV Akkarapatumwong, S Oranwiroon, P Pung-amritt, et al.Pageof 574