Výsledky vyhledávání - "Klara Flipsen-ten Berg"

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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Akademický článek

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

Autor: Flipsen-ten Berg, Klara¹ k.tenberg@umcutrecht.nl, van Hasselt, Peter M.², Eleveld, Marc J.¹, van der Wijst, Suzanne E.¹, Hol, Frans A.³, de Vroede, Monique A. M.², Beemer, Frits A.¹, Hochstenbach, P. F. Ron¹, Poot, Martin¹

Publikováno v: European Journal of Human Genetics. Nov2007, Vol. 15 Issue 11, p1132-1138. 7p. 3 Diagrams, 1 Chart, 1 Graph.

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