Jira P - Search Results

1

The growing skull fracture, a rare complication of paediatric head injury.

Zegers B, Jira P, Willemsen M, Grotenhuis J. Zegers B, et al. Among authors: jira p. Eur J Pediatr. 2003 Jul;162(7-8):556-557. doi: 10.1007/s00431-003-1256-1. Epub 2003 Jun 11. Eur J Pediatr. 2003. PMID: 12802685 No abstract available.

2

[Three hypotonic neonates with hypertrophic cardiomyopathy: Pompe's disease].

Willemsen MA, Jira PE, Gabreëls FJ, van der Ploeg AT, Smeitink JA. Willemsen MA, et al. Among authors: jira pe. Ned Tijdschr Geneeskd. 1998 Jun 13;142(24):1388-92. Ned Tijdschr Geneeskd. 1998. PMID: 9752027 Dutch.

3

The phenotype of recurrent 10q22q23 deletions and duplications.

van Bon BW, Balciuniene J, Fruhman G, Nagamani SC, Broome DL, Cameron E, Martinet D, Roulet E, Jacquemont S, Beckmann JS, Irons M, Potocki L, Lee B, Cheung SW, Patel A, Bellini M, Selicorni A, Ciccone R, Silengo M, Vetro A, Knoers NV, de Leeuw N, Pfundt R, Wolf B, Jira P, Aradhya S, Stankiewicz P, Brunner HG, Zuffardi O, Selleck SB, Lupski JR, de Vries BB. van Bon BW, et al. Among authors: jira p. Eur J Hum Genet. 2011 Apr;19(4):400-8. doi: 10.1038/ejhg.2010.211. Epub 2011 Jan 19. Eur J Hum Genet. 2011. PMID: 21248748 Free PMC article.

4

Simvastatin. A new therapeutic approach for Smith-Lemli-Opitz syndrome.

Jira PE, Wevers RA, de Jong J, Rubio-Gozalbo E, Janssen-Zijlstra FS, van Heyst AF, Sengers RC, Smeitink JA. Jira PE, et al. J Lipid Res. 2000 Aug;41(8):1339-46. J Lipid Res. 2000. PMID: 10946022 Free article.

5

Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome.

Jira PE, Wanders RJ, Smeitink JA, De Jong J, Wevers RA, Oostheim W, Tuerlings JH, Hennekam RC, Sengers RC, Waterham HR. Jira PE, et al. Ann Hum Genet. 2001 May;65(Pt 3):229-36. doi: 10.1017/S0003480001008600. Ann Hum Genet. 2001. PMID: 11427181

6

Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene.

Waterham HR, Wijburg FA, Hennekam RC, Vreken P, Poll-The BT, Dorland L, Duran M, Jira PE, Smeitink JA, Wevers RA, Wanders RJ. Waterham HR, et al. Among authors: jira pe. Am J Hum Genet. 1998 Aug;63(2):329-38. doi: 10.1086/301982. Am J Hum Genet. 1998. PMID: 9683613 Free PMC article.

7

[Theophylline poisoning in children].

Jira PE, Semmekrot BA, Vree TB, Monnens LA. Jira PE, et al. Ned Tijdschr Geneeskd. 1996 Aug 3;140(31):1608-11. Ned Tijdschr Geneeskd. 1996. PMID: 8768816 Dutch.

8

New treatment strategy for Smith-Lemli-Opitz syndrome.

Jira P, Wevers R, de Jong J, Rubio-Gozalbo E, Smeitink J. Jira P, et al. Lancet. 1997 Apr 26;349(9060):1222. doi: 10.1016/S0140-6736(05)62415-4. Lancet. 1997. PMID: 9130950 Free article. No abstract available.

9

[Two patients with Hantavirus infection in The Netherlands; substantial increase in incidence in neighbouring countries].

Dillingh SJ, Jira P, Morroy G, Wolters B, Beutler J, Schneeberger PM. Dillingh SJ, et al. Among authors: jira p. Ned Tijdschr Geneeskd. 2006 Jun 10;150(23):1303-6. Ned Tijdschr Geneeskd. 2006. PMID: 16821456 Dutch.

10

Smith-Lemli-Opitz syndrome and the DHCR7 gene.

Jira PE, Waterham HR, Wanders RJ, Smeitink JA, Sengers RC, Wevers RA. Jira PE, et al. Ann Hum Genet. 2003 May;67(Pt 3):269-80. doi: 10.1046/j.1469-1809.2003.00034.x. Ann Hum Genet. 2003. PMID: 12914579 Review.

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