Ghent University Academic Bibliography

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2018
- C3
- conference
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, Thalia Van Laethem UGent, Irina Balikova, Bart Leroy UGent, Frauke Coppieters and Elfride De Baere UGent (2018) European Human Genetics conference, Abstracts. Mark
- C3
- conference
Leveraging consanguinity in inherited retinal diseases uncovers missing genetic variation : rare novel disease genes and a multitude of novel variants in known disease genes
Kristof Van Schil UGent, Sarah Naessens UGent, Stijn Van De Sompele UGent, Nuria Gruartmoner Roura, Marjolein Carron UGent, Katharina Dannhausen, Sarah De Jaegere, Maxim Vanpanteghem, Frauke Coppieters, Marcus Karlstetter, et al. (2018) Belgian Society for Human Genetics, 18th Annual meeting, Abstracts. Mark
- A1
- journalArticle
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations
Kristof Van Schil UGent, Sarah Naessens UGent, Stijn Van De Sompele UGent, Marjolein Carron UGent, Alexander Aslanidis, Caroline Van Cauwenbergh UGent, Anja Kathrin Mayer, Mattias Van Heetvelde UGent, Miriam Bauwens UGent, Hannah Verdin UGent, et al. (2018) GENETICS IN MEDICINE. 20(2). p.202-213 Mark
- C3
- conference
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, Thalia Van Laethem UGent, Irina Balikova, Bart Leroy UGent, Elfride De Baere UGent and Frauke Coppieters (2018) Belgian Society for Human Genetics, 18th Annual meeting, Abstracts. Mark
2017
- C3
- conference
Novel non-coding homozygous mutation 'Ghent +49A>G' in the iron-responsive element of L-ferritin causes hereditary hyperferritinaemia-cataract syndrome
Stijn Van De Sompele UGent, Audrey Meunier, Lucie Pécheux and Elfride De Baere UGent (2017) Belgian Society for Human Genetics, 17th Annual meeting, Abstracts. Mark
- C3
- conference
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations
Kristof Van Schil UGent, Sarah Naessens UGent, Stijn Van De Sompele UGent, Marjolein Carron UGent, Alexander Aslanidis, Caroline Van Cauwenbergh UGent, Anja Kathrin Mayer, Mattias Van Heetvelde UGent, Miriam Bauwens UGent, Hannah Verdin UGent, et al. (2017) Science Day, Faculty of Medicine and Health Science, Ghent University, Abstracts. Mark
- C3
- conference
Leveraging consanguinity in inherited retinal diseases uncovers missing genetic variation : rare novel disease genes and a multitude of novel variants in known disease genes
Kristof Van Schil UGent, Sarah Naessens UGent, Stijn Van De Sompele UGent, Nuria Gruartmoner Roura, Marjolein Carron UGent, Katharina Dannhausen, Sarah De Jaegere, Maxim Vanpanteghem, Frauke Coppieters, Marcus Karlstetter, et al. (2017) American Society of Human Genetics, Annual meeting, Abstracts. Mark
- C3
- conference
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations
Kristof Van Schil UGent, Sarah Naessens UGent, Stijn Van De Sompele UGent, Marjolein Carron UGent, Alexander Aslanidis, Caroline Van Cauwenbergh UGent, Anne Kathrin Mayer, Mattias Van Heetvelde UGent, Miriam Bauwens UGent, Hannah Verdin UGent, et al. (2017) Belgian Society for Human Genetics, 17th Annual meeting, Abstracts. Mark
- C3
- conference
Novel non-coding homozygous mutation 'Ghent +49A>G' in the iron-responsive element of L-ferritin causes hereditary hyperferritinaemia-cataract syndrome
Stijn Van De Sompele UGent, Audrey Meunier, Lucie Pécheux and Elfride De Baere UGent (2017) Science Day, Faculty of Medicine and Health Science, Ghent University, Abstracts. Mark
- A1
- journalArticle
Functional characterization of a novel non-coding mutation 'Ghent +49A>G' in the iron-responsive element of L-ferritin causing hereditary hyperferritinaemia-cataract syndrome
Stijn Van De Sompele UGent, Lucie Pécheux, Jorge Couso, Audrey Meunier, Mayka Sanchez and Elfride De Baere UGent (2017) SCIENTIFIC REPORTS. 7. Mark

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