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Human Mutation|January 7, 2010
Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activationTomoko Kobayashi, Yoko Aoki, Tetsuya Niihori, et al.Human Mutation|January 7, 2010
Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumorsPaul J Newey, Michael R Bowl, Treena Cranston, et al.Human Mutation|January 7, 2010
Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplexKen Natsuga, Wataru Nishie, Masashi Akiyama, et al.Human Mutation|January 7, 2010
Extended runs of homozygosity at 17q11.2: an association with type-2 NF1 deletions?Angelika C Roehl, David N Cooper, Lan Kluwe, et al.Human Mutation|January 7, 2010
In silico functional profiling of human disease-associated and polymorphic amino acid substitutionsMatthew Mort, Uday S Evani, Vidhya G Krishnan, et al.Human Mutation|January 7, 2010
The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutationsMia-Lisa Schmiedt, Carlos Bessa, Claudia Heine, et al.Human Mutation|January 7, 2010
Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal lociSylvia Quemener, Jian-Min Chen, Nadia Chuzhanova, et al.Human Mutation|December 19, 2009
A thorough assessment of benign genetic variability in GRN and MAPTRita J Guerreiro, Nicole Washecka, John Hardy, et al.Human Mutation|January 1, 1994
Exon eight APC mutations account for a disproportionate number of familial adenomatous polyposis familiesD J Koorey, G W McCaughan, R J Trent, et al.Pageof 583