Smeets HJ - Search Results

1

Electrical signals affect the cardiomyocyte transcriptome independently of contraction.

Martherus RS, Vanherle SJ, Timmer ED, Zeijlemaker VA, Broers JL, Smeets HJ, Geraedts JP, Ayoubi TA. Martherus RS, et al. Among authors: smeets hj. Physiol Genomics. 2010 Nov 29;42A(4):283-9. doi: 10.1152/physiolgenomics.00182.2009. Epub 2010 Sep 21. Physiol Genomics. 2010. PMID: 20858713

2

Anticipation resulting in elimination of the myotonic dystrophy gene: a follow up study of one extended family.

de Die-Smulders CE, Höweler CJ, Mirandolle JF, Brunner HG, Hovers V, Brüggenwirth H, Smeets HJ, Geraedts JP. de Die-Smulders CE, et al. Among authors: smeets hj. J Med Genet. 1994 Aug;31(8):595-601. doi: 10.1136/jmg.31.8.595. J Med Genet. 1994. PMID: 7815415 Free PMC article.

3

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.

4

Age and causes of death in adult-onset myotonic dystrophy.

de Die-Smulders CE, Höweler CJ, Thijs C, Mirandolle JF, Anten HB, Smeets HJ, Chandler KE, Geraedts JP. de Die-Smulders CE, et al. Among authors: smeets hj. Brain. 1998 Aug;121 ( Pt 8):1557-63. doi: 10.1093/brain/121.8.1557. Brain. 1998. PMID: 9712016

5

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

6

Identification of COL4A5 defects in Alport's syndrome by immunohistochemistry of skin.

van der Loop FT, Monnens LA, Schröder CH, Lemmink HH, Breuning MH, Timmer ED, Smeets HJ. van der Loop FT, et al. Among authors: smeets hj. Kidney Int. 1999 Apr;55(4):1217-24. doi: 10.1046/j.1523-1755.1999.00357.x. Kidney Int. 1999. PMID: 10200983 Free article.

7

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

8

Duplication within chromosome region 15q11-q13 in a patient with similarities to Prader-Willi syndrome confirmed by region-specific and band-specific fish.

Engelen JJ, Loots WJ, Albrechts JC, Schrander-Stumpel CT, Dirckx R, Smeets HJ, Hamers AJ, Geraedts JP. Engelen JJ, et al. Among authors: smeets hj. Genet Couns. 1999;10(2):123-32. Genet Couns. 1999. PMID: 10422004 Review.

9

Multiplex PCR of polymorphic markers flanking the CFTR gene; a general approach for preimplantation genetic diagnosis of cystic fibrosis.

Dreesen JC, Jacobs LJ, Bras M, Herbergs J, Dumoulin JC, Geraedts JP, Evers JL, Smeets HJ. Dreesen JC, et al. Among authors: smeets hj. Mol Hum Reprod. 2000 May;6(5):391-6. doi: 10.1093/molehr/6.5.391. Mol Hum Reprod. 2000. PMID: 10775641

10

Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation.

van der Loop FT, Heidet L, Timmer ED, van den Bosch BJ, Leinonen A, Antignac C, Jefferson JA, Maxwell AP, Monnens LA, Schröder CH, Smeets HJ. van der Loop FT, et al. Among authors: smeets hj. Kidney Int. 2000 Nov;58(5):1870-5. doi: 10.1111/j.1523-1755.2000.00358.x. Kidney Int. 2000. PMID: 11044206 Free article.

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