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Mutation detection in the repeated part of the PKD1 gene.
Roelfsema JH, Spruit L, Saris JJ, Chang P, Pirson Y, van Ommen GJ, Peters DJ, Breuning MH. Roelfsema JH, et al. Among authors: spruit l. Am J Hum Genet. 1997 Nov;61(5):1044-52. doi: 10.1086/301600. Am J Hum Genet. 1997. PMID: 9345095 Free PMC article.
Cellular localization and tissue distribution of polycystin-1.
Peters DJ, van de Wal A, Spruit L, Saris JJ, Breuning MH, Bruijn JA, de Heer E. Peters DJ, et al. Among authors: spruit l. J Pathol. 1999 Aug;188(4):439-46. doi: 10.1002/(SICI)1096-9896(199908)188:4<439::AID-PATH367>3.0.CO;2-P. J Pathol. 1999. PMID: 10440756
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: spruit l. Am J Hum Genet. 1993 Feb;52(2):249-54. Am J Hum Genet. 1993. PMID: 8430691 Free PMC article.
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