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Deletions and loss-of-function variants in TP63 associated with orofacial clefting.
Eur J Hum Genet. 2019 Jul;27(7):1101-1112. doi: 10.1038/s41431-019-0370-0. Epub 2019 Mar 8.
Eur J Hum Genet. 2019.
PMID: 30850703
Free PMC article.
Clinical Trial.
Tooth agenesis and orofacial clefting: genetic brothers in arms?
Phan M, Conte F, Khandelwal KD, Ockeloen CW, Bartzela T, Kleefstra T, van Bokhoven H, Rubini M, Zhou H, Carels CE.
Phan M, et al. Among authors: khandelwal kd.
Hum Genet. 2016 Dec;135(12):1299-1327. doi: 10.1007/s00439-016-1733-z. Epub 2016 Oct 3.
Hum Genet. 2016.
PMID: 27699475
Free PMC article.
Review.
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Novel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel Sequencing.
Khandelwal KD, Ishorst N, Zhou H, Ludwig KU, Venselaar H, Gilissen C, Thonissen M, van Rooij IA, Dreesen K, Steehouwer M, van de Vorst M, Bloemen M, van Beusekom E, Roosenboom J, Borstlap W, Admiraal R, Dormaar T, Schoenaers J, Vander Poorten V, Hens G, Verdonck A, Bergé S, Roeleveldt N, Vriend G, Devriendt K, Brunner HG, Mangold E, Hoischen A, van Bokhoven H, Carels CE.
Khandelwal KD, et al.
J Dent Res. 2017 Feb;96(2):179-185. doi: 10.1177/0022034516678829. Epub 2016 Nov 13.
J Dent Res. 2017.
PMID: 27834299
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Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis.
Ockeloen CW, Khandelwal KD, Dreesen K, Ludwig KU, Sullivan R, van Rooij IALM, Thonissen M, Swinnen S, Phan M, Conte F, Ishorst N, Gilissen C, RoaFuentes L, van de Vorst M, Henkes A, Steehouwer M, van Beusekom E, Bloemen M, Vankeirsbilck B, Bergé S, Hens G, Schoenaers J, Poorten VV, Roosenboom J, Verdonck A, Devriendt K, Roeleveldt N, Jhangiani SN, Vissers LELM, Lupski JR, de Ligt J, Von den Hoff JW, Pfundt R, Brunner HG, Zhou H, Dixon J, Mangold E, van Bokhoven H, Dixon MJ, Kleefstra T, Hoischen A, Carels CEL.
Ockeloen CW, et al. Among authors: khandelwal kd.
Genet Med. 2016 Nov;18(11):1158-1162. doi: 10.1038/gim.2016.10. Epub 2016 Mar 10.
Genet Med. 2016.
PMID: 26963285
Free PMC article.
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Identification of a de novo variant in CHUK in a patient with an EEC/AEC syndrome-like phenotype and hypogammaglobulinemia.
Khandelwal KD, Ockeloen CW, Venselaar H, Boulanger C, Brichard B, Sokal E, Pfundt R, Rinne T, van Beusekom E, Bloemen M, Vriend G, Revencu N, Carels CEL, van Bokhoven H, Zhou H.
Khandelwal KD, et al.
Am J Med Genet A. 2017 Jul;173(7):1813-1820. doi: 10.1002/ajmg.a.38274. Epub 2017 May 17.
Am J Med Genet A. 2017.
PMID: 28513979
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Genomic approaches for studying craniofacial disorders.
Khandelwal KD, van Bokhoven H, Roscioli T, Carels CE, Zhou H.
Khandelwal KD, et al.
Am J Med Genet C Semin Med Genet. 2013 Nov;163C(4):218-31. doi: 10.1002/ajmg.c.31379. Epub 2013 Oct 18.
Am J Med Genet C Semin Med Genet. 2013.
PMID: 24142857
Review.
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