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Human Mutation|August 30, 2008
Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamilyElena G Bochukova, Tony Roscioli, Dale J Hedges, et al.
Human Mutation|May 4, 2010
Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE)Lihadh Al-Gazali, Bassam R Ali
Human Mutation|May 4, 2010
Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosisRobert C Bauer, Ayanna O Laney, Rosemarie Smith, et al.
Human Mutation|December 17, 2008
An inherited mitochondrial DNA disruptive mutation shifts to homoplasmy in oncocytic tumor cellsGiuseppe Gasparre, Luisa Iommarini, Anna Maria Porcelli, et al.
Human Mutation|May 22, 2009
Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclaseVeronique B D Kitiratschky, Petra Behnen, Ulrich Kellner, et al.
Human Mutation|May 23, 2009
APP and BACE1 miRNA genetic variability has no major role in risk for Alzheimer diseaseKarolien Bettens, Nathalie Brouwers, Sebastiaan Engelborghs, et al.
Human Mutation|May 7, 2009
High-resolution melting analysis (HRMA): more than just sequence variant screeningRolf H A M Vossen, Emmelien Aten, Anja Roos, et al.
Human Mutation|May 12, 2009
Gene conversion causing human inherited disease: evidence for involvement of non-B-DNA-forming sequences and recombination-promoting motifs in DNA breakage and repairNadia Chuzhanova, Jian-Min Chen, Albino Bacolla, et al.
Human Mutation|May 12, 2009
A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological functionChiara Vantaggiato, Francesca Redaelli, Sestina Falcone, et al.
Human Mutation|March 6, 2009
BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive proteinRaffaella Rossetti, Elisa Di Pasquale, Anna Marozzi, et al.
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