Výsledky vyhledávání - "Ralph Mazijk"

Early onset X-linked female limited high myopia in three multigenerational families caused by novel mutations in the ARR3 gene

Autor: Ralph Mazijk, Annechien E.G. Haarman, Lies H. Hoefsloot, Jan R. Polling, Marianne Tienhoven, Caroline C.W. Klaver, Virginie J.M. Verhoeven, Sjoukje E. Loudon, Alberta A.H.J. Thiadens, Anneke J.A. Kievit

Publikováno v: Human Mutation, 43, 380-388
Human Mutation, 43(3), 380-388. Wiley-Liss Inc.
Human Mutation, 43, 3, pp. 380-388

Contains fulltext : 249568.pdf (Publisher’s version ) (Open Access) This study describes the clinical spectrum and genetic background of high myopia caused by mutations in the ARR3 gene. We performed an observational case series of three multigener

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90fd44e160c701c271b2469134c3c66f
http://www.scopus.com/inward/record.url?scp=85122888957&partnerID=8YFLogxK

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání