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Miriam Bauwens

Publication Activity (10 Years)

Years Active: 2016-2019
Publications (10 Years): 2

Top Topics

Fluorescence Imaging

Intellectual Disability

Pseudomonas Aeruginosa

Top Venues

Genetics in medicine : official journal of the American College of Medical Genetics

Clinical genetics

Ghent University

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Ghent University

Belgium

PhD Student :: Center for Medical Genetics

Publications

Miriam Bauwens, Stephan Storch, Nicole Weisschuh, Chantal Ceuterick-de Groote, Riet De Rycke, Brecht Guillemyn, Sarah De Jaegere, Frauke Coppieters, Rudy Van Coster, Bart P Leroy, Elfride De Baere
Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy. Clinical genetics 97 (3) (2019)
Caroline Van Cauwenbergh, Kristof Van Schil, Robrecht Cannoodt, Miriam Bauwens, Thalia Van Laethem, Sarah De Jaegere, Wouter Steyaert, Tom Sante, Björn Menten, Bart P Leroy, Frauke Coppieters, Elfride De Baere
arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs. Genetics in medicine : official journal of the American College of Medical Genetics 19 (4) (2016)