Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

164 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Telomeres: a diagnosis at the end of the chromosomes.
De Vries BB, Winter R, Schinzel A, van Ravenswaaij-Arts C. De Vries BB, et al. J Med Genet. 2003 Jun;40(6):385-98. doi: 10.1136/jmg.40.6.385. J Med Genet. 2003. PMID: 12807958 Free PMC article. Review.
Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities.
Vissers LE, de Vries BB, Osoegawa K, Janssen IM, Feuth T, Choy CO, Straatman H, van der Vliet W, Huys EH, van Rijk A, Smeets D, van Ravenswaaij-Arts CM, Knoers NV, van der Burgt I, de Jong PJ, Brunner HG, van Kessel AG, Schoenmakers EF, Veltman JA. Vissers LE, et al. Am J Hum Genet. 2003 Dec;73(6):1261-70. doi: 10.1086/379977. Epub 2003 Nov 18. Am J Hum Genet. 2003. PMID: 14628292 Free PMC article.
Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype.
Swinkels ME, Simons A, Smeets DF, Vissers LE, Veltman JA, Pfundt R, de Vries BB, Faas BH, Schrander-Stumpel CT, McCann E, Sweeney E, May P, Draaisma JM, Knoers NV, van Kessel AG, van Ravenswaaij-Arts CM. Swinkels ME, et al. Am J Med Genet A. 2008 Jun 1;146A(11):1430-8. doi: 10.1002/ajmg.a.32310. Am J Med Genet A. 2008. PMID: 18452192
Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances.
Doornbos M, Sikkema-Raddatz B, Ruijvenkamp CA, Dijkhuizen T, Bijlsma EK, Gijsbers AC, Hilhorst-Hofstee Y, Hordijk R, Verbruggen KT, Kerstjens-Frederikse WS, van Essen T, Kok K, van Silfhout AT, Breuning M, van Ravenswaaij-Arts CM. Doornbos M, et al. Eur J Med Genet. 2009 Mar-Jun;52(2-3):108-15. doi: 10.1016/j.ejmg.2009.03.010. Epub 2009 Mar 27. Eur J Med Genet. 2009. PMID: 19328872
An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions.
Verheij JB, de Munnik SA, Dijkhuizen T, de Leeuw N, Olde Weghuis D, van den Hoek GJ, Rijlaarsdam RS, Thomasse YE, Dikkers FG, Marcelis CL, van Ravenswaaij-Arts CM. Verheij JB, et al. Eur J Med Genet. 2009 Sep-Oct;52(5):353-7. doi: 10.1016/j.ejmg.2009.05.006. Epub 2009 May 21. Eur J Med Genet. 2009. PMID: 19464398
164 results