Search Results - "Huizenga, Xanne J J"

Genotype and Phenotype Analyses of a Novel WFS1 Variant (c.2512C>T p.(Pro838Ser)) Associated with DFNA6/14/38 by Velde, Hedwig M, Huizenga, Xanne J J, Yntema, Helger G, Haer-Wigman, Lonneke, Beynon, Andy J, Oostrik, Jaap, Pegge, Sjoert A H, Kremer, Hannie, Lanting, Cris P, Pennings, Ronald J E

“…The aim of this study is to contribute to a better description of the genotypic and phenotypic spectrum of DFNA6/14/38 and aid in counseling future patients…”
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Genotype and Phenotype Analyses of a Novel IWFS1/I Variant Associated with DFNA6/14/38 by Velde, Hedwig M, Huizenga, Xanne J. J, Yntema, Helger G, Haer-Wigman, Lonneke, Beynon, Andy J, Oostrik, Jaap, Pegge, Sjoert A. H, Kremer, Hannie, Lanting, Cris P, Pennings, Ronald J. E

“…The aim of this study is to contribute to a better description of the genotypic and phenotypic spectrum of DFNA6/14/38 and aid in counseling future patients…”
Get full text