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Nature Genetics|December 1, 1995
A mouse model of human familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidismC Ho, D A Conner, M R Pollak, et al.
Nature Genetics|December 1, 1995
An integrated metric physical map of human chromosome 19L K Ashworth, M A Batzer, B Brandriff, et al.
Nature Genetics|December 1, 1995
Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactylyE A Putnam, H Zhang, F Ramirez, et al.
Nature Genetics|December 1, 1995
Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2N H Robin, G J Feldman, A L Aronson, et al.
Nature Genetics|November 1, 1993
A mutation in CFTR produces different phenotypes depending on chromosomal backgroundS Kiesewetter, M Macek, C Davis, et al.
Nature Genetics|May 5, 2015
Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate exportAndrea Legati, Donatella Giovannini, Gaël Nicolas, et al.
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