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Exome-based RetNet panel analysis in a Belgian cohort with inherited retinal disease (IRD) expands the molecular and phenotypic spectrum of recently identified IRD genes

Stijn Van De Sompele (UGent) , Kristof Van Schil (UGent) , Caroline Van Cauwenbergh (UGent) , Toon Rosseel (UGent) , Sarah De Jaegere (UGent) , Thalia Van Laethem (UGent) , Irina Balikova (UGent) , Bart Leroy (UGent) , Frauke Coppieters (UGent) and Elfride De Baere (UGent)

(2018) European Human Genetics conference, Abstracts.
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Exome-based RetNet panel analysis in a Belgian cohort with inherited retinal disease expands the molecular and phenotypic spectrum of recently identified iRD genes

Stijn Van De Sompele (UGent) , Kristof Van Schil (UGent) , Caroline Van Cauwenbergh (UGent) , Toon Rosseel (UGent) , Sarah De Jaegere (UGent) , Thalia Van Laethem (UGent) , Irina Balikova (UGent) , Bart Leroy (UGent) , Elfride De Baere (UGent) and Frauke Coppieters (UGent)

(2018) Belgian Society for Human Genetics, 18th Annual meeting, Abstracts.
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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

Caroline Van Cauwenbergh (UGent) , Kristof Van Schil (UGent) , Robrecht Cannoodt (UGent) , Miriam Bauwens (UGent) , Thalia Van Laethem (UGent) , Sarah De Jaegere (UGent) , Wouter Steyaert (UGent) , Tom Sante (UGent) , Björn Menten (UGent) , Bart Leroy (UGent) , et al.

(2017) GENETICS IN MEDICINE. 19(4). p.457-466
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Isolated and syndromic retinal dystrophy caused by biallelic mutations in RCBTB1, a gene implicated in ubiquitination

Frauke Coppieters (UGent) , Giulia Ascari (UGent) , Katharina Dannhausen, Konstantinos Nikopoulos, Frank Peelman (UGent) , Marcus Karlstetter, Mingchu Xu, Cécile Brachet, Isabelle Meunier, Miltiadis K Tsilimbaris, et al.

(2016) AMERICAN JOURNAL OF HUMAN GENETICS. 99(2). p.470-480

Academic Bibliography

Exome-based RetNet panel analysis in a Belgian cohort with inherited retinal disease (IRD) expands the molecular and phenotypic spectrum of recently identified IRD genes

Exome-based RetNet panel analysis in a Belgian cohort with inherited retinal disease expands the molecular and phenotypic spectrum of recently identified iRD genes

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

Isolated and syndromic retinal dystrophy caused by biallelic mutations in RCBTB1, a gene implicated in ubiquitination

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