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Human Mutation|August 2, 2013
The Finnish disease heritage database (FinDis) update-a database for the genes mutated in the Finnish disease heritage brought to the next-generation sequencing eraAnne Polvi, Henna Linturi, Teppo Varilo, et al.Human Mutation|July 24, 2013
β-Thalassemia due to intronic LINE-1 insertion in the β-globin gene (HBB): molecular mechanisms underlying reduced transcript levels of the β-globin(L1) alleleLucie Lanikova, Jana Kucerova, Karel Indrak, et al.Human Mutation|July 30, 2013
Detection of clinically relevant copy number variants with whole-exome sequencingJoep de Ligt, Philip M Boone, Rolph Pfundt, et al.Human Mutation|May 11, 2012
Ontological phenotype standards for neurogeneticsSebastian Köhler, Sandra C Doelken, Ana Rath, et al.Human Mutation|May 3, 2012
Mitochondrial tRNA mutations are associated with maternally inherited hypertension in two Han Chinese pedigreesQiaomeng Qiu, Ronghua Li, Pingping Jiang, et al.Human Mutation|May 15, 2012
Inactive matriptase-2 mutants found in IRIDA patients still repress hepcidin in a transfection assay despite having lost their serine protease activityFlavia Guillem, Caroline Kannengiesser, Claire Oudin, et al.Human Mutation|November 23, 2012
Drastic effect of germline TP53 missense mutations in Li-Fraumeni patientsYasmine Zerdoumi, Juliette Aury-Landas, Catherine Bonaïti-Pellié, et al.Human Mutation|June 13, 2012
The inherited ataxias: genetic heterogeneity, mutation databases, and future directions in research and clinical diagnosticsJoshua Hersheson, Andrea Haworth, Henry HouldenHuman Mutation|April 5, 2002
Large-scale genotyping of single nucleotide polymorphisms by Pyrosequencingtrade mark and validation against the 5'nuclease (Taqman((R))) assayLouise Nordfors, Mårten Jansson, Gunnar Sandberg, et al.Human Mutation|April 5, 2002
Making ends meet in genetic analysis using padlock probesMats Nilsson, Johan Banér, Maritha Mendel-Hartvig, et al.Pageof 583