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Human Mutation|June 21, 2006
McArdle disease: the mutation spectrum of PYGM in a large Italian cohortClaudio Bruno, Denise Cassandrini, Andrea Martinuzzi, et al.
Human Mutation|December 6, 2008
In Vitro studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilationDelphine Trochet, Yves Mathieu, Loïc de Pontual, et al.
Human Mutation|November 28, 2008
Oncogenic HRAS mutations cause prolonged PI3K signaling in response to epidermal growth factor in fibroblasts of patients with Costello syndromeGeorg Rosenberger, Stefanie Meien, Kerstin Kutsche
Human Mutation|November 14, 2008
Somatic mutation databases as tools for molecular epidemiology and molecular pathology of cancer: proposed guidelines for improving data collection, distribution, and integrationM Olivier, A Petitjean, J Teague, et al.
Human Mutation|November 14, 2008
Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1Wenke Seifert, Muriel Holder-Espinasse, Jirko Kühnisch, et al.
Human Mutation|June 30, 2009
Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controlsPeriklis Makrythanasis, Philipp Kapranov, Lucia Bartoloni, et al.
Human Mutation|June 30, 2009
The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndromeMing-Hui Wei, Patrick W Blake, Julia Shevchenko, et al.
Human Mutation|June 25, 2009
A splice site mutation combined with a novel missense mutation of LHCGR cause male pseudohermaphroditismJie Qiao, Bing Han, Bing-Li Liu, et al.
Human Mutation|April 16, 2009
Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebaseSylvie Tuffery-Giraud, Christophe Béroud, France Leturcq, et al.
Human Mutation|April 7, 2009
Parallel sequencing used in detection of mosaic mutations: comparison with four diagnostic DNA screening techniquesAnna Rohlin, Josephine Wernersson, Yvonne Engwall, et al.
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