Hennekam RC - Search Results

1

A proposal for classification of entities combining vascular malformations and deregulated growth.

Oduber CE, van der Horst CM, Sillevis Smitt JH, Smeulders MJ, Mendiratta V, Harper JI, van Steensel MA, Hennekam RC. Oduber CE, et al. Among authors: hennekam rc. Eur J Med Genet. 2011 May-Jun;54(3):262-71. doi: 10.1016/j.ejmg.2011.02.007. Epub 2011 Feb 26. Eur J Med Genet. 2011. PMID: 21356335

2

A boy with a cleft lip and palate, tritubercular incisors, and finger anomaly.

Hennekam RC, Van der Horst CM. Hennekam RC, et al. Clin Dysmorphol. 1996 Oct;5(4):303-5. Clin Dysmorphol. 1996. PMID: 8905194

3

Progress toward understanding vascular malformations.

Breugem CC, van Der Horst CM, Hennekam RC. Breugem CC, et al. Among authors: hennekam rc. Plast Reconstr Surg. 2001 May;107(6):1509-23. doi: 10.1097/00006534-200105000-00033. Plast Reconstr Surg. 2001. PMID: 11335828 Review. No abstract available.

4

Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experience.

van Karnebeek CD, Koevoets C, Sluijter S, Bijlsma EK, Smeets DF, Redeker EJ, Hennekam RC, Hoovers JM. van Karnebeek CD, et al. Among authors: hennekam rc. J Med Genet. 2002 Aug;39(8):546-53. doi: 10.1136/jmg.39.8.546. J Med Genet. 2002. PMID: 12161591 Free PMC article.

5

Are capillary malformations neurovenular or purely neural?

Breugem CC, Hennekam RC, van Gemert MJ, van der Horst CM. Breugem CC, et al. Among authors: hennekam rc. Plast Reconstr Surg. 2005 Feb;115(2):578-87. doi: 10.1097/01.prs.0000150150.69479.70. Plast Reconstr Surg. 2005. PMID: 15692368 Review. No abstract available.

6

Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience.

Bhuiyan ZA, Klein M, Hammond P, van Haeringen A, Mannens MM, Van Berckelaer-Onnes I, Hennekam RC. Bhuiyan ZA, et al. Among authors: hennekam rc. J Med Genet. 2006 Jul;43(7):568-75. doi: 10.1136/jmg.2005.038240. Epub 2005 Oct 19. J Med Genet. 2006. PMID: 16236812 Free PMC article.

7

Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation.

Verstraeten VL, Broers JL, van Steensel MA, Zinn-Justin S, Ramaekers FC, Steijlen PM, Kamps M, Kuijpers HJ, Merckx D, Smeets HJ, Hennekam RC, Marcelis CL, van den Wijngaard A. Verstraeten VL, et al. Among authors: hennekam rc. Hum Mol Genet. 2006 Aug 15;15(16):2509-22. doi: 10.1093/hmg/ddl172. Epub 2006 Jul 6. Hum Mol Genet. 2006. PMID: 16825282

8

Klippel-Trenaunay syndrome: diagnostic criteria and hypothesis on etiology.

Oduber CE, van der Horst CM, Hennekam RC. Oduber CE, et al. Among authors: hennekam rc. Ann Plast Surg. 2008 Feb;60(2):217-23. doi: 10.1097/SAP.0b013e318062abc1. Ann Plast Surg. 2008. PMID: 18216519 Review.

9

Baseline Quality of Life in patients with Klippel-Trenaunay syndrome.

Oduber CE, Khemlani K, Sillevis Smitt JH, Hennekam RC, van der Horst CM. Oduber CE, et al. Among authors: hennekam rc. J Plast Reconstr Aesthet Surg. 2010 Apr;63(4):603-9. doi: 10.1016/j.bjps.2009.01.055. Epub 2009 Mar 16. J Plast Reconstr Aesthet Surg. 2010. PMID: 19289309

10

A heterozygous null mutation combined with the G1258A polymorphism of SPINK5 causes impaired LEKTI function and abnormal expression of skin barrier proteins.

Di WL, Hennekam RC, Callard RE, Harper JI. Di WL, et al. Among authors: hennekam rc. Br J Dermatol. 2009 Aug;161(2):404-12. doi: 10.1111/j.1365-2133.2009.09231.x. Epub 2009 May 12. Br J Dermatol. 2009. PMID: 19438860

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