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Human Mutation|February 24, 2009
Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type IaAna I Vega, Celia Pérez-Cerdá, Lourdes R Desviat, et al.Human Mutation|February 26, 2009
Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1Matthew L Herman, Sharifeh Farasat, Peter J Steinbach, et al.Human Mutation|April 17, 2009
An update on mutations of the SLC39A4 gene in acrodermatitis enteropathicaSébastien Schmitt, Sébastien Küry, Mathilde Giraud, et al.Human Mutation|April 17, 2009
Molecular neonatal screening for homocystinuria in the Qatari populationJohannes Zschocke, Moustafa Kebbewar, Hongying Gan-Schreier, et al.Human Mutation|January 22, 2009
Haplotypes of the NR4A2/NURR1 gene and cardiovascular disease: the Rotterdam StudyIsabella Kardys, Claudia M van Tiel, Carlie J M de Vries, et al.Human Mutation|January 22, 2009
Combining the interactome and deleterious SNP predictions to improve disease gene identificationM A Care, J R Bradford, C J Needham, et al.Human Mutation|August 7, 2008
Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array methodYoann Saillour, Mireille Cossée, France Leturcq, et al.Human Mutation|September 11, 2008
Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disordersChantal Stheneur, Gwenaëlle Collod-Béroud, Laurence Faivre, et al.Human Mutation|July 28, 2009
Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patientsBarbara Tappino, Nadia A Chuzhanova, Stefano Regis, et al.Human Mutation|July 30, 2009
Genetic variations as cancer prognostic markers: review and updateSevtap Savas, Geoffrey LiuPageof 575