Academic Bibliography

Search 200 years of publications by Ghent University researchers.

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Your filters: cql: author="Friedburg, Christoph" or (type any "bookEditor journalEditor issueEditor" and editor="Fri...

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Where are the missing gene defects in inherited retinal disorders? : intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders

Christina Zeitz, Christelle Michiels, Marion Neuillé, Christoph Friedburg, Christel Condroyer, Fiona Boyard, Aline Antonio, Nassima Bouzidi, Diana Milicevic, Robin Veaux, et al.

(2019) HUMAN MUTATION. 40(6). p.765-787
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Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness

Isabelle Audo, Kinga Bujakowska, Elise Orhan, Charlotte M Poloschek, Sabine Defoort-Dhellemmes, Isabelle Drumare, Susanne Kohl, Tien D Luu, Odile Lecompte, Eberhart Zrenner, et al.

(2012) AMERICAN JOURNAL OF HUMAN GENETICS. 90(2). p.321-330
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Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response

Bernd Wissinger, Simone Schaich, Britta Baumann, Michael Bonin, Herbert Jägle, Christoph Friedburg, Balázs Varsányi, Carel B Hoyng, Hélène Dollfus, John R Heckenliyely, et al.

(2011) HUMAN MUTATION. 32(12). p.1398-1406
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Genotyping microarray for CSNB-associated genes

Christina Zeitz, Stephan Labs, Birgit Lorenz, Ursula Forster, Janne Uksti, Hester Y Kroes, Elfride De Baere (UGent) , Bart Leroy (UGent) , Frans PM Cremers, Mariana Wittmer, et al.

(2009) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 50(12). p.5919-5926