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Nature Genetics|January 1, 1993
Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2M Tassabehji, A P Read, V E Newton, et al.Nature Genetics|January 1, 1993
A point mutation in the FMR-1 gene associated with fragile X mental retardationK De Boulle, A J Verkerk, E Reyniers, et al.Nature Genetics|January 1, 1993
A human pseudoautosomal gene, ADP/ATP translocase, escapes X-inactivation whereas a homologue on Xq is subject to X-inactivationK Schiebel, B Weiss, D Wöhrle, et al.Nature Genetics|April 1, 1996
A novel X-linked gene, G4.5. is responsible for Barth syndromeS Bione, P D'Adamo, E Maestrini, et al.Nature Genetics|April 1, 1996
A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuriaJ A Keightley, K C Hoffbuhr, M D Burton, et al.Nature Genetics|April 1, 1996
Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4B Coyle, R Coffey, J A Armour, et al.Nature Genetics|April 1, 1996
Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organificationV C Sheffield, Z Kraiem, J C Beck, et al.Nature Genetics|April 1, 1996
Genetic mapping of a pulmonary adenoma resistance (Par1) in mouseG Manenti, M Gariboldi, R Elango, et al.Nature Genetics|May 1, 1996
A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypesS Thorlacius, G Olafsdottir, L Tryggvadottir, et al.Pageof 745