Výsledky vyhledávání - "Suzanne E van der Wijst"

Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf–Hirschhorn syndrome

Autor: Klara Flipsen-ten Berg, P F Ron Hochstenbach, Martin Poot, Marc J. Eleveld, Frits A. Beemer, Peter M. van Hasselt, Suzanne E van der Wijst, Monique A. M. J. de Vroede, Frans A. Hol

Publikováno v: European Journal of Human Genetics, 15, 11, pp. 1132-8
European Journal of Human Genetics, 15, 1132-8

Contains fulltext : 36655.pdf (Publisher’s version ) (Closed access) The Wolf-Hirschhorn syndrome (WHS (MIM 194190)), which is characterized by growth delay, mental retardation, epilepsy, facial dysmorphisms, and midline fusion defects, shows exten

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::300afc8fc920bad9ff181a0eb8981020
https://doi.org/10.1038/sj.ejhg.5201899

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Dandy-Walker complex in a boy with a 5 Mb deletion of region 1q44 due to a paternal t(1;20)(q44;q13.33)

Autor: Rutger A.J. Nievelstein, Martin Poot, Daniel Olde Weghuis, Ron Hochstenbach, Rene C. Vreuls, Liesbeth Rooms, Suzanne E van der Wijst, R. Frank Kooy, Hester Y. Kroes, Marc J. Eleveld, Gerard Hageman

Publikováno v: American journal of medical genetics : part A

A 10-year-old boy with vermis hypoplasia, dilatation of the fourth ventricle, enlarged cisterna magna and aplasia of the corpus callosum, consistent with the Dandy-Walker complex (DWC), and slight facial dysmorphisms, severe motor and mental retardat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fffcb7389a0ddf2f9362d6c055158fe0
https://hdl.handle.net/10067/639810151162165141

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