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Page 1
MLL2 mutation spectrum in 45 patients with Kabuki syndrome.
Paulussen AD, Stegmann AP, Blok MJ, Tserpelis D, Posma-Velter C, Detisch Y, Smeets EE, Wagemans A, Schrander JJ, van den Boogaard MJ, van der Smagt J, van Haeringen A, Stolte-Dijkstra I, Kerstjens-Frederikse WS, Mancini GM, Wessels MW, Hennekam RC, Vreeburg M, Geraedts J, de Ravel T, Fryns JP, Smeets HJ, Devriendt K, Schrander-Stumpel CT. Paulussen AD, et al. Among authors: smeets ee, smeets hj. Hum Mutat. 2011 Feb;32(2):E2018-25. doi: 10.1002/humu.21416. Epub 2010 Dec 7. Hum Mutat. 2011. PMID: 21280141
The clinical spectrum of type IV collagen mutations.
Lemmink HH, Schröder CH, Monnens LA, Smeets HJ. Lemmink HH, et al. Among authors: smeets hj. Hum Mutat. 1997;9(6):477-99. doi: 10.1002/(SICI)1098-1004(1997)9:6<477::AID-HUMU1>3.0.CO;2-#. Hum Mutat. 1997. PMID: 9195222 Review.
Paternal transmission of congenital myotonic dystrophy.
de Die-Smulders CE, Smeets HJ, Loots W, Anten HB, Mirandolle JF, Geraedts JP, Höweler CJ. de Die-Smulders CE, et al. Among authors: smeets hj. J Med Genet. 1997 Nov;34(11):930-3. doi: 10.1136/jmg.34.11.930. J Med Genet. 1997. PMID: 9391889 Free PMC article.
Preimplantation genetic diagnosis of spinal muscular atrophy.
Dreesen JC, Bras M, de Die-Smulders C, Dumoulin JC, Cobben JM, Evers JL, Smeets HJ, Geraedts JP. Dreesen JC, et al. Among authors: smeets hj. Mol Hum Reprod. 1998 Sep;4(9):881-5. doi: 10.1093/molehr/4.9.881. Mol Hum Reprod. 1998. PMID: 9783849
Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.
Jongbloed RJ, Wilde AA, Geelen JL, Doevendans P, Schaap C, Van Langen I, van Tintelen JP, Cobben JM, Beaufort-Krol GC, Geraedts JP, Smeets HJ. Jongbloed RJ, et al. Among authors: smeets hj. Hum Mutat. 1999;13(4):301-10. doi: 10.1002/(SICI)1098-1004(1999)13:4<301::AID-HUMU7>3.0.CO;2-V. Hum Mutat. 1999. PMID: 10220144
289 results