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Page 1
Familial syndromic esophageal atresia maps to 2p23-p24.
Celli J, van Beusekom E, Hennekam RC, Gallardo ME, Smeets DF, de Córdoba SR, Innis JW, Frydman M, König R, Kingston H, Tolmie J, Govaerts LC, van Bokhoven H, Brunner HG. Celli J, et al. Among authors: hennekam rc. Am J Hum Genet. 2000 Feb;66(2):436-44. doi: 10.1086/302779. Am J Hum Genet. 2000. PMID: 10677303 Free PMC article.
DNA diagnosis of Prader-Willi and Angelman syndromes with the probe PW71 (D15S63).
van den Ouweland AM, van der Est MN, Wesby-van Swaay E, Tijmensen TS, Los FJ, Van Hemel JO, Hennekam RC, Meijers-Heijboer HJ, Niermeijer MF, Halley DJ. van den Ouweland AM, et al. Among authors: hennekam rc. Hum Genet. 1995 May;95(5):562-7. doi: 10.1007/BF00223870. Hum Genet. 1995. PMID: 7759079
18q- and 18q+ mosaicism in a mentally retarded boy.
Ausems MG, Bhola SL, Post-Blok CA, Hennekam RC, de France HF. Ausems MG, et al. Among authors: hennekam rc. Am J Med Genet. 1994 Nov 15;53(3):296-9. doi: 10.1002/ajmg.1320530317. Am J Med Genet. 1994. PMID: 7856666
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: hennekam rc. Am J Hum Genet. 1993 Feb;52(2):249-54. Am J Hum Genet. 1993. PMID: 8430691 Free PMC article.
595 results