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A family with severe X-linked arthrogryposis.
Hennekam RC, Barth PG, Van Lookeren Campagne W, De Visser M, Dingemans KP. Hennekam RC, et al. Eur J Pediatr. 1991 Jul;150(9):656-60. doi: 10.1007/BF02072628. Eur J Pediatr. 1991. PMID: 1915520 Review.
PTEN hamartoma tumour syndrome: variability of an entity.
Merks JH, de Vries LS, Zhou XP, Nikkels P, Barth PG, Eng C, Hennekam RC. Merks JH, et al. Among authors: hennekam rc. J Med Genet. 2003 Oct;40(10):e111. doi: 10.1136/jmg.40.10.e111. J Med Genet. 2003. PMID: 14569134 Free PMC article. No abstract available.
Cerebellar hypoplasia-endosteal sclerosis: a long term follow-up.
Ozgen HM, Overweg-Plandsoen WC, Blees-Pelk J, Besselaar PP, Hennekam RC. Ozgen HM, et al. Among authors: hennekam rc. Am J Med Genet A. 2005 Apr 15;134A(2):215-9. doi: 10.1002/ajmg.a.30589. Am J Med Genet A. 2005. PMID: 15672385 Review.
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.
Budde BS, Namavar Y, Barth PG, Poll-The BT, Nürnberg G, Becker C, van Ruissen F, Weterman MA, Fluiter K, te Beek ET, Aronica E, van der Knaap MS, Höhne W, Toliat MR, Crow YJ, Steinling M, Voit T, Roelenso F, Brussel W, Brockmann K, Kyllerman M, Boltshauser E, Hammersen G, Willemsen M, Basel-Vanagaite L, Krägeloh-Mann I, de Vries LS, Sztriha L, Muntoni F, Ferrie CD, Battini R, Hennekam RC, Grillo E, Beemer FA, Stoets LM, Wollnik B, Nürnberg P, Baas F. Budde BS, et al. Among authors: hennekam rc. Nat Genet. 2008 Sep;40(9):1113-8. doi: 10.1038/ng.204. Nat Genet. 2008. PMID: 18711368
Oculoauriculovertebral spectrum and cerebral anomalies.
Schrander-Stumpel CT, de Die-Smulders CE, Hennekam RC, Fryns JP, Bouckaert PX, Brouwer OF, da Costa JJ, Lommen EJ, Maaswinkel-Mooy PD. Schrander-Stumpel CT, et al. Among authors: hennekam rc. J Med Genet. 1992 May;29(5):326-31. doi: 10.1136/jmg.29.5.326. J Med Genet. 1992. PMID: 1583660 Free PMC article. Review.
595 results