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Academic Bibliography

Search 200 years of publications by Ghent University researchers.

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Your filters: cql: author=" Van Schil, Kristof" or (type any "bookEditor issueEditor" and editor=" Van Schil, Kristof")

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- Conference Paper
- C3
Unraveling the genetic basis of early-onset inherited retinal disease in a Saudi Arabian cohort reveals a novel RIMS2-related family

Basamat Almoallem Mohammed (UGent) , Marta del Pozo Valero (UGent) , Laila Jeddawi, Kristof Van Schil, Toon Rosseel (UGent) , Sarah De Jaegere (UGent) , Bart Leroy (UGent) , Khalid Emara, Frauke Coppieters (UGent) , Miriam Bauwens (UGent) , et al.

(2023) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 31(Supplement 1). p.114-114
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- Journal Article
- A1
- open access
CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis

Nafisa Nuzhat, Kristof Van Schil, Sandra Liakopoulos, Miriam Bauwens (UGent) , Alfredo Dueñas Rey (UGent) , Stephan Kaeseberg, Melanie Jaeger, Jason R. Willer, Jennifer Winter, Hanh M. Truong, et al.

(2023) JOURNAL OF CLINICAL INVESTIGATION. 133(8).
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- Journal Article
- A1
- open access
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder

Maria B. Christensen, Amanda M. Levy, Nazanin A. Mohammadi, Marcello Niceta, Rauan Kaiyrzhanov, Maria Lisa Dentici, Chadi Al Alam, Viola Alesi, Valerie Benoit, Kailash P. Bhatia, et al.

(2022) CLINICAL GENETICS. 102(2). p.98-109

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