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Human Mutation|March 17, 2004
Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsySusanna Ranta, Meral Topcu, Saara Tegelberg, et al.Human Mutation|March 17, 2004
Identification of a novel candidate gene, CASC2, in a region of common allelic loss at chromosome 10q26 in human endometrial cancerPaola Baldinu, Antonio Cossu, Antonella Manca, et al.Human Mutation|March 17, 2004
Genetically heterogeneous selective intestinal malabsorption of vitamin B12: founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle EastStephan M Tanner, Zhongyuan Li, Ryan Bisson, et al.Human Mutation|March 17, 2004
Genetic variants of ABCA1 modify Alzheimer disease risk and quantitative traits related to beta-amyloid metabolismHagit Katzov, Katy Chalmers, Juni Palmgren, et al.Human Mutation|March 17, 2004
Identification of four novel COL10A1 missense mutations in schmid metaphyseal chondrodysplasia: further evidence that collagen X NC1 mutations impair trimer assemblyJohn F Bateman, Susanna Freddi, Robyn McNeil, et al.Human Mutation|March 17, 2004
Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiencyFederica Sangiuolo, Mauro Magnani, Dwight Stambolian, et al.Human Mutation|March 17, 2004
Genetic and biochemical analyses of Israeli osteogenesis imperfecta patientsLiat Ries-Levavi, Tsofia Ish-Shalom, Moshe Frydman, et al.Human Mutation|January 1, 1992
Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) geneK Tanaka, I Yokota, P M Coates, et al.Human Mutation|January 15, 2004
The pedigree tool: web-based visualization of a family treePeter Lachmund, Istvan-Tibor Nebel, Dagmar Führer, et al.Human Mutation|January 15, 2004
Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial and/or hereditary pancreatitisC Le Maréchal, J M Chen, C Le Gall, et al.Pageof 583