Admiraal RJ - Search Results

1

CHARGE syndrome: relations between behavioral characteristics and medical conditions.

Vervloed MP, Hoevenaars-van den Boom MA, Knoors H, van Ravenswaaij CM, Admiraal RJ. Vervloed MP, et al. Among authors: admiraal rj. Am J Med Genet A. 2006 Apr 15;140(8):851-62. doi: 10.1002/ajmg.a.31193. Am J Med Genet A. 2006. PMID: 16532469

2

Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability.

Jongmans MC, Hoefsloot LH, van der Donk KP, Admiraal RJ, Magee A, van de Laar I, Hendriks Y, Verheij JB, Walpole I, Brunner HG, van Ravenswaaij CM. Jongmans MC, et al. Among authors: admiraal rj. Am J Med Genet A. 2008 Jan 1;146A(1):43-50. doi: 10.1002/ajmg.a.31921. Am J Med Genet A. 2008. PMID: 18074359

3

CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.

Jongmans MC, Admiraal RJ, van der Donk KP, Vissers LE, Baas AF, Kapusta L, van Hagen JM, Donnai D, de Ravel TJ, Veltman JA, Geurts van Kessel A, De Vries BB, Brunner HG, Hoefsloot LH, van Ravenswaaij CM. Jongmans MC, et al. Among authors: admiraal rj. J Med Genet. 2006 Apr;43(4):306-14. doi: 10.1136/jmg.2005.036061. Epub 2005 Sep 9. J Med Genet. 2006. PMID: 16155193 Free PMC article.

4

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.

Vissers LE, van Ravenswaaij CM, Admiraal R, Hurst JA, de Vries BB, Janssen IM, van der Vliet WA, Huys EH, de Jong PJ, Hamel BC, Schoenmakers EF, Brunner HG, Veltman JA, van Kessel AG. Vissers LE, et al. Nat Genet. 2004 Sep;36(9):955-7. doi: 10.1038/ng1407. Epub 2004 Aug 8. Nat Genet. 2004. PMID: 15300250

5

Clinical findings in obligate carriers of type I Usher syndrome.

Wagenaar M, ter Rahe B, van Aarem A, Huygen P, Admiraal R, Bleeker-Wagemakers E, Pinckers A, Kimberling W, Cremers C. Wagenaar M, et al. Am J Med Genet. 1995 Nov 20;59(3):375-9. doi: 10.1002/ajmg.1320590319. Am J Med Genet. 1995. PMID: 8599365

6

Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome.

Bergman JE, de Wijs I, Jongmans MC, Admiraal RJ, Hoefsloot LH, van Ravenswaaij-Arts CM. Bergman JE, et al. Among authors: admiraal rj. Eur J Med Genet. 2008 Sep-Oct;51(5):417-25. doi: 10.1016/j.ejmg.2008.03.003. Epub 2008 Apr 4. Eur J Med Genet. 2008. PMID: 18472328

7

Temporal bone CT findings in the CHARGE association.

Admiraal RJ, Joosten FB, Huygen PL. Admiraal RJ, et al. Int J Pediatr Otorhinolaryngol. 1998 Oct 2;45(2):151-62. doi: 10.1016/s0165-5876(98)00102-5. Int J Pediatr Otorhinolaryngol. 1998. PMID: 9849683

8

Disruption of teashirt zinc finger homeobox 1 is associated with congenital aural atresia in humans.

Feenstra I, Vissers LE, Pennings RJ, Nillessen W, Pfundt R, Kunst HP, Admiraal RJ, Veltman JA, van Ravenswaaij-Arts CM, Brunner HG, Cremers CW. Feenstra I, et al. Among authors: admiraal rj. Am J Hum Genet. 2011 Dec 9;89(6):813-9. doi: 10.1016/j.ajhg.2011.11.008. Am J Hum Genet. 2011. PMID: 22152683 Free PMC article.

9

Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients.

Poll-The BT, Gootjes J, Duran M, De Klerk JB, Wenniger-Prick LJ, Admiraal RJ, Waterham HR, Wanders RJ, Barth PG. Poll-The BT, et al. Among authors: admiraal rj. Am J Med Genet A. 2004 May 1;126A(4):333-8. doi: 10.1002/ajmg.a.20664. Am J Med Genet A. 2004. PMID: 15098231

10

CT findings of the temporal bone in CHARGE syndrome: aspects of importance in cochlear implant surgery.

Vesseur AC, Verbist BM, Westerlaan HE, Kloostra FJJ, Admiraal RJC, van Ravenswaaij-Arts CMA, Free RH, Mylanus EAM. Vesseur AC, et al. Eur Arch Otorhinolaryngol. 2016 Dec;273(12):4225-4240. doi: 10.1007/s00405-016-4141-z. Epub 2016 Jun 20. Eur Arch Otorhinolaryngol. 2016. PMID: 27324890 Free PMC article.

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