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[Molecular genetic aspects of phenylketonuria (PKU)].
Giltay JC, van Hoef AM, de Weger R, Duran M, Berger R, Beemer FA. Giltay JC, et al. Tijdschr Kindergeneeskd. 1991 Jun;59(3):77-80. Tijdschr Kindergeneeskd. 1991. PMID: 1677790 Review. Dutch.
[Genetics in medical practice after 2000].
Ploos van Amstel JK, van Haeften TW, Giltay JC. Ploos van Amstel JK, et al. Among authors: giltay jc. Ned Tijdschr Geneeskd. 1999 Nov 6;143(45):2261-5. Ned Tijdschr Geneeskd. 1999. PMID: 10578426 Review. Dutch.
Further confirmation of the MED13L haploinsufficiency syndrome.
van Haelst MM, Monroe GR, Duran K, van Binsbergen E, Breur JM, Giltay JC, van Haaften G. van Haelst MM, et al. Among authors: giltay jc. Eur J Hum Genet. 2015 Jan;23(1):135-8. doi: 10.1038/ejhg.2014.69. Epub 2014 Apr 30. Eur J Hum Genet. 2015. PMID: 24781760 Free PMC article.
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.
Snijders Blok L, Madsen E, Juusola J, Gilissen C, Baralle D, Reijnders MR, Venselaar H, Helsmoortel C, Cho MT, Hoischen A, Vissers LE, Koemans TS, Wissink-Lindhout W, Eichler EE, Romano C, Van Esch H, Stumpel C, Vreeburg M, Smeets E, Oberndorff K, van Bon BW, Shaw M, Gecz J, Haan E, Bienek M, Jensen C, Loeys BL, Van Dijck A, Innes AM, Racher H, Vermeer S, Di Donato N, Rump A, Tatton-Brown K, Parker MJ, Henderson A, Lynch SA, Fryer A, Ross A, Vasudevan P, Kini U, Newbury-Ecob R, Chandler K, Male A; DDD Study; Dijkstra S, Schieving J, Giltay J, van Gassen KL, Schuurs-Hoeijmakers J, Tan PL, Pediaditakis I, Haas SA, Retterer K, Reed P, Monaghan KG, Haverfield E, Natowicz M, Myers A, Kruer MC, Stein Q, Strauss KA, Brigatti KW, Keating K, Burton BK, Kim KH, Charrow J, Norman J, Foster-Barber A, Kline AD, Kimball A, Zackai E, Harr M, Fox J, McLaughlin J, Lindstrom K, Haude KM, van Roozendaal K, Brunner H, Chung WK, Kooy RF, Pfundt R, Kalscheuer V, Mehta SG, Katsanis N, Kleefstra T. Snijders Blok L, et al. Am J Hum Genet. 2015 Aug 6;97(2):343-52. doi: 10.1016/j.ajhg.2015.07.004. Epub 2015 Jul 30. Am J Hum Genet. 2015. PMID: 26235985 Free PMC article.
Subfertile men with constitutive chromosome abnormalities do not necessarily refrain from intracytoplasmic sperm injection treatment: a follow-up study on 75 Dutch patients.
Giltay JC, Kastrop PM, Tuerlings JH, Kremer JA, Tiemessen CH, Gerssen-Schoorl KB, van der Veen F, de Vries J, Hordijk R, Hamers GJ, Hansson K, van der Blij-Philipsen M, Govaerts LC, Pieters MH, Madan K, Scheres JM. Giltay JC, et al. Hum Reprod. 1999 Feb;14(2):318-20. doi: 10.1093/humrep/14.2.318. Hum Reprod. 1999. PMID: 10099971
Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux.
Lu W, van Eerde AM, Fan X, Quintero-Rivera F, Kulkarni S, Ferguson H, Kim HG, Fan Y, Xi Q, Li QG, Sanlaville D, Andrews W, Sundaresan V, Bi W, Yan J, Giltay JC, Wijmenga C, de Jong TP, Feather SA, Woolf AS, Rao Y, Lupski JR, Eccles MR, Quade BJ, Gusella JF, Morton CC, Maas RL. Lu W, et al. Among authors: giltay jc. Am J Hum Genet. 2007 Apr;80(4):616-32. doi: 10.1086/512735. Epub 2007 Feb 14. Am J Hum Genet. 2007. PMID: 17357069 Free PMC article.
94 results