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Human Mutation|February 5, 2013
PhenoDB: a new web-based tool for the collection, storage, and analysis of phenotypic featuresAda Hamosh, Nara Sobreira, Julie Hoover-Fong, et al.Human Mutation|March 1, 2013
Using reference databases of genetic variation to evaluate the potential pathogenicity of candidate disease variantsKevin P Kenna, Russell L McLaughlin, Orla Hardiman, et al.Human Mutation|March 14, 2013
Simple detection of germline microsatellite instability for diagnosis of constitutional mismatch repair cancer syndromeDanielle Ingham, Christine P Diggle, Ian Berry, et al.Human Mutation|April 5, 2013
In-depth analysis of hyaline fibromatosis syndrome frameshift mutations at the same site reveal the necessity of personalized therapyShixu E Yan, Thomas Lemmin, Suzanne Salvi, et al.Human Mutation|April 23, 2013
Cytoplasmic mislocalization of POU3F4 due to novel mutations leads to deafness in humans and miceThomas Parzefall, Shaked Shivatzki, Danielle R Lenz, et al.Human Mutation|May 16, 2013
0.5 Mb array as a first-line prenatal cytogenetic test in cases without ultrasound abnormalities and its implementation in clinical practiceMalgorzata I Srebniak, Lisanne Mout, Diane Van Opstal, et al.Human Mutation|May 3, 2013
PhenoTips: patient phenotyping software for clinical and research useMarta Girdea, Sergiu Dumitriu, Marc Fiume, et al.Human Mutation|April 6, 2013
Tetrahydrobiopterin, its mode of action on phenylalanine hydroxylase, and importance of genotypes for pharmacological therapy of phenylketonuriaCaroline Heintz, Richard G H Cotton, Nenad BlauHuman Mutation|April 10, 2013
A rare motor neuron deleterious missense mutation in the DPYSL3 (CRMP4) gene is associated with ALSHélène Blasco, Nathalie Bernard-Marissal, Patrick Vourc'h, et al.Human Mutation|April 10, 2013
Online biomedical resources for malaria-related red cell disordersFrédéric B Piel, Rosalind E Howes, Oscar A Nyangiri, et al.Pageof 583