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Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3.
Breuning MH, Dauwerse HG, Fugazza G, Saris JJ, Spruit L, Wijnen H, Tommerup N, van der Hagen CB, Imaizumi K, Kuroki Y, van den Boogaard MJ, de Pater JM, Mariman EC, Hamel BC, Himmelbauer H, Frischauf AM, Stallings R, Beverstock GC, van Ommen GJ, Hennekam RC. Breuning MH, et al. Among authors: frischauf am. Am J Hum Genet. 1993 Feb;52(2):249-54. Am J Hum Genet. 1993. PMID: 8430691 Free PMC article.
Construction of a map of chromosome 16 by using radiation hybrids.
Ceccherini I, Romeo G, Lawrence S, Breuning MH, Harris PC, Himmelbauer H, Frischauf AM, Sutherland GR, Germino GG, Reeders ST, et al. Ceccherini I, et al. Among authors: frischauf am. Proc Natl Acad Sci U S A. 1992 Jan 1;89(1):104-8. doi: 10.1073/pnas.89.1.104. Proc Natl Acad Sci U S A. 1992. PMID: 1729675 Free PMC article.
Genetic heterogeneity in familial malignant melanoma.
MacGeoch C, Bishop JA, Bataille V, Bishop DT, Frischauf AM, Meloni R, Cuzick J, Pinney E, Spurr NK. MacGeoch C, et al. Among authors: frischauf am. Hum Mol Genet. 1994 Dec;3(12):2195-200. doi: 10.1093/hmg/3.12.2195. Hum Mol Genet. 1994. PMID: 7881419
Haplotype analysis in autosomal dominant polycystic kidney disease.
Pound SE, Thomas S, Snarey A, Macnicol AM, Watson ML, Pignatelli PM, Frischauf AM, Harris PC, Wright AF. Pound SE, et al. Among authors: frischauf am. J Med Genet. 1995 Mar;32(3):208-12. doi: 10.1136/jmg.32.3.208. J Med Genet. 1995. PMID: 7783171 Free PMC article.
108 results