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152 results
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Angelman syndrome without detectable chromosome 15q11-13 anomaly: clinical study of familial and isolated cases.
Laan LA, Halley DJ, den Boer AT, Hennekam RC, Renier WO, Brouwer OF. Laan LA, et al. Among authors: halley dj. Am J Med Genet. 1998 Mar 19;76(3):262-8. Am J Med Genet. 1998. PMID: 9508247 Review.
Prenatal diagnosis of the fragile X syndrome: loss of mutation owing to a double recombinant or gene conversion event at the FMR1 locus.
Losekoot M, Hoogendoorn E, Olmer R, Jansen CC, Oosterwijk JC, van den Ouweland AM, Halley DJ, Warren ST, Willemsen R, Oostra BA, Bakker E. Losekoot M, et al. Among authors: halley dj. J Med Genet. 1997 Nov;34(11):924-6. doi: 10.1136/jmg.34.11.924. J Med Genet. 1997. PMID: 9391887 Free PMC article.
High rate of mosaicism in tuberous sclerosis complex.
Verhoef S, Bakker L, Tempelaars AM, Hesseling-Janssen AL, Mazurczak T, Jozwiak S, Fois A, Bartalini G, Zonnenberg BA, van Essen AJ, Lindhout D, Halley DJ, van den Ouweland AM. Verhoef S, et al. Among authors: halley dj. Am J Hum Genet. 1999 Jun;64(6):1632-7. doi: 10.1086/302412. Am J Hum Genet. 1999. PMID: 10330349 Free PMC article.
The spectrum of mutations in UBE3A causing Angelman syndrome.
Fang P, Lev-Lehman E, Tsai TF, Matsuura T, Benton CS, Sutcliffe JS, Christian SL, Kubota T, Halley DJ, Meijers-Heijboer H, Langlois S, Graham JM Jr, Beuten J, Willems PJ, Ledbetter DH, Beaudet AL. Fang P, et al. Among authors: halley dj. Hum Mol Genet. 1999 Jan;8(1):129-35. doi: 10.1093/hmg/8.1.129. Hum Mol Genet. 1999. PMID: 9887341
Relative frequencies of cystic fibrosis mutations in The Netherlands as an illustration of significant regional variation in a small country.
Collée JM, de Vries HG, Scheffer H, Halley DJ, ten Kate LP. Collée JM, et al. Among authors: halley dj. Hum Genet. 1998 May;102(5):587-90. doi: 10.1007/s004390050745. Hum Genet. 1998. PMID: 9654210
Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis.
Buiting K, Dittrich B, Gross S, Lich C, Färber C, Buchholz T, Smith E, Reis A, Bürger J, Nöthen MM, Barth-Witte U, Janssen B, Abeliovich D, Lerer I, van den Ouweland AM, Halley DJ, Schrander-Stumpel C, Smeets H, Meinecke P, Malcolm S, Gardner A, Lalande M, Nicholls RD, Friend K, Schulze A, Matthijs G, Kokkonen H, Hilbert P, Van Maldergem L, Glover G, Carbonell P, Willems P, Gillessen-Kaesbach G, Horsthemke B. Buiting K, et al. Among authors: halley dj. Am J Hum Genet. 1998 Jul;63(1):170-80. doi: 10.1086/301935. Am J Hum Genet. 1998. PMID: 9634532 Free PMC article.
Angelman syndrome in an inbred family.
Beuten J, Hennekam RC, Van Roy B, Mangelschots K, Sutcliffe JS, Halley DJ, Hennekam FA, Beaudet AL, Willems PJ. Beuten J, et al. Among authors: halley dj. Hum Genet. 1996 Mar;97(3):294-8. doi: 10.1007/BF02185757. Hum Genet. 1996. PMID: 8786067
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: halley dj. Hum Genet. 1995 May;95(5):562-7. doi: 10.1007/BF00223870. Hum Genet. 1995. PMID: 7759079
Identification of the L927P and delta L1260 mutations in the CFTR gene.
Hermans CJ, Veeze HJ, Drexhage VR, Halley DJ, van den Ouweland AM. Hermans CJ, et al. Among authors: halley dj. Hum Mol Genet. 1994 Jul;3(7):1199-200. doi: 10.1093/hmg/3.7.1199. Hum Mol Genet. 1994. PMID: 7526927 No abstract available.
Isolated lissencephaly sequence associated with a microdeletion at chromosome 17p13.
De Rijk-van Andel JF, Catsman-Berrevoets CE, Halley DJ, Wesby-van Swaay E, Niermeijer MF, Oostra BA. De Rijk-van Andel JF, et al. Among authors: halley dj. Hum Genet. 1991 Aug;87(4):509-10. doi: 10.1007/BF00197179. Hum Genet. 1991. PMID: 1879837
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