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Over onsMedische WetenschappenResearchDepartment of GeneticsStaff
University Medical Center Groningen

Yvonne Vos, PhD

Clinical molecular geneticist
Dr Yvonne Vos

MSc: Chemistry, Free University Amsterdam, 1982

PhD: "Genetics of L1 Syndrome" University of Groningen, 2010

See PubMed for her papers

Email: Y.J.Vos@umcg.nl

Keywords: L1 syndrome, mutation analysis, genotype-phenotype analysis

Publications

  • Adducted thumbs: A clinical clue to genetic diagnosis Verhagen JM, Schrander-Stumpel CT, Blezer MM, Weber JW, Schrander JJ, Rubio-Gozalbo ME, Bakker JA, Stegmann AP, Vos YJ, Frints SG. Eur J Med Genet. 2012 Dec 7. doi:pii: S1769-7212(12)00311-4. 10.1016/j.ejmg.2012.11.004. [Epub ahead of print]
  • L1 syndrome. Schrander-Stumpel C, Vos YJ. In: GeneReviews at genetests: Medical Genetics Infomation Resource [online database] Copyright, University of Washington, Seattle, 1997-2004. (2004, updated 2006)
  • Van gen naar ziekte; X-gebonden hydrocephalus en L1CAM. CTRM. Schrander-Stumpel, YJ Vos. Ned Tijdschr Geneeskd 2004; 148(29):1441-1443
  • X-linked hydrocephalus: a novel missense mutation in the L1CAM gene. L Sztriha, YJ Vos, E Verlind, J Johansen, B Berg. Pediatr. Neurol 2002; 27:293-296

Links

http://www.genetests.org

Laatst gewijzigd:17 november 2015 12:42