Anneke van Silfhout MD

PhD student mental retardation



General Information

Street / P.O. BoxGeert Grooteplein 10, 849
Zip code6525 GA
CityNijmegen
CountryThe Netherlands
E-MailA.Silfhout@gen.umcn.nl
Phone number(s)+31 (0)24 3655775
Fax+31 (0)24 3668752
Website(s)-

More Information

Within the AnEUploidy project I'm studying the significance of inherited copy number variants for clinical diagnostics in patients with MR/MCA. Besides I'm working on a phenotypic database that contains clinical data of more than two thousand patients with MR/MCA. With this database our goal is to assemble patient groups with similar phenotypes and in this way discover new genes for specific syndromes. I'm also clinical database manager of the ECARUCA database, which contains phenotypic data of patients with chromosomal aberrations.

Projects Involved

AnEUploidy


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