Suchergebnisse - "Van Schil, Kristof"

PubPharm (27)

1

CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis

enthalten in: bioRxiv.org | 2024

von Nuzhat, N. | Van Schil, K. | Liakopoulos, S. | +30

2

Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis

enthalten in: Journal of medical genetics | 2024

von Luyckx, I. | Walton, I. | Boeckx, N. | +9

3

From diagnosis to treatment in genetic epilepsies : Implementation of precision medicine in real-world clinical practice

enthalten in: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society | 2024

von De Wachter, M. | Schoonjans, A. | Weckhuysen, S. | +5

4

A homozygous loss of function variant in POPDC3 : From invalidating exercise intolerance to a limb-girdle muscular dystrophy phenotype

enthalten in: Neuromuscular disorders : NMD | 2023

von De Ridder, W. | de Vries, G. | Van Schil, K. | +4

5

CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis

enthalten in: The Journal of clinical investigation | 2023

von Nuzhat, N. | Van Schil, K. | Liakopoulos, S. | +30

6

Targeted Next-Generation Sequencing in Children With Bilateral Sensorineural Hearing Loss : Diagnostic Yield and Predictors of a Genetic Cause

enthalten in: Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology | 2023

von Boudewyns, A. | van den Ende, J. | Peeters, N. | +5

7

Negative Molecular Diagnostics in Non-Syndromic Hearing Loss : What Next?

enthalten in: Genes | 2022

von Clabout, T. | Maes, L. | Acke, F. | +5

8

Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder

enthalten in: Clinical genetics | 2022

von Christensen, M. | Levy, A. | Mohammadi, N. | +54

9

Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder

enthalten in: Clinical Genetics | 2022

von Christensen, M. | Levy, A. | Mohammadi, N. | +54

10

Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation

enthalten in: JCI insight | 2021

von Beijer, D. | Kim, H. | Guo, L. | +23