Pijkels E - Search Results

1

Fountain syndrome: further delineation of the clinical syndrome and follow-up data.

Van Buggenhout GJ, Van Ravenswaaij-Arts CM, Renier WO, Van de Wiel MP, Trommelen JC, Pijkels E, Hamel BC, Fryns JP. Van Buggenhout GJ, et al. Among authors: pijkels e. Genet Couns. 1996;7(3):177-86. Genet Couns. 1996. PMID: 8897038

2

Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome.

Van Esch H, Backx L, Pijkels E, Fryns JP. Van Esch H, et al. Among authors: pijkels e. Eur J Med Genet. 2009 Mar-Jun;52(2-3):153-6. doi: 10.1016/j.ejmg.2009.02.003. Epub 2009 Feb 21. Eur J Med Genet. 2009. PMID: 19233321

3

Cri du chat syndrome: changing phenotype in older patients.

Van Buggenhout GJ, Pijkels E, Holvoet M, Schaap C, Hamel BC, Fryns JP. Van Buggenhout GJ, et al. Among authors: pijkels e. Am J Med Genet. 2000 Jan 31;90(3):203-15. doi: 10.1002/(sici)1096-8628(20000131)90:3<203::aid-ajmg5>3.0.co;2-a. Am J Med Genet. 2000. PMID: 10678657

4

Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination.

Vandewalle J, Van Esch H, Govaerts K, Verbeeck J, Zweier C, Madrigal I, Mila M, Pijkels E, Fernandez I, Kohlhase J, Spaich C, Rauch A, Fryns JP, Marynen P, Froyen G. Vandewalle J, et al. Among authors: pijkels e. Am J Hum Genet. 2009 Dec;85(6):809-22. doi: 10.1016/j.ajhg.2009.10.019. Am J Hum Genet. 2009. PMID: 20004760 Free PMC article.

5

A study of the cognitive and psychological profile in 16 children with congenital or juvenile myotonic dystrophy.

Steyaert J, Umans S, Willekens D, Legius E, Pijkels E, de Die-Smulders C, Van den Berghe H, Fryns JP. Steyaert J, et al. Among authors: pijkels e. Clin Genet. 1997 Sep;52(3):135-41. doi: 10.1111/j.1399-0004.1997.tb02533.x. Clin Genet. 1997. PMID: 9377801

6

Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD).

Debeer P, Van Esch H, Huysmans C, Pijkels E, De Smet L, Van de Ven W, Devriendt K, Fryns JP. Debeer P, et al. Among authors: pijkels e. Eur J Med Genet. 2005 Oct-Dec;48(4):377-87. doi: 10.1016/j.ejmg.2005.05.003. Eur J Med Genet. 2005. PMID: 16378922

7

No evidence for a parental inversion polymorphism predisposing to rearrangements at 22q11.2 in the DiGeorge/Velocardiofacial syndrome.

Gebhardt GS, Devriendt K, Thoelen R, Swillen A, Pijkels E, Fryns JP, Vermeesch JR, Gewillig M. Gebhardt GS, et al. Among authors: pijkels e. Eur J Hum Genet. 2003 Feb;11(2):109-11. doi: 10.1038/sj.ejhg.5200930. Eur J Hum Genet. 2003. PMID: 12634857 No abstract available.

8

PPP2R2C, a gene disrupted in autosomal dominant intellectual disability.

Backx L, Vermeesch J, Pijkels E, de Ravel T, Seuntjens E, Van Esch H. Backx L, et al. Among authors: pijkels e. Eur J Med Genet. 2010 Sep-Oct;53(5):239-43. doi: 10.1016/j.ejmg.2010.06.006. Epub 2010 Jun 23. Eur J Med Genet. 2010. PMID: 20601260

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

8 results

Search Page

Filters