E-LIB Suche - Ergebnisse für: Van Coster, Rudy

1

Safety, tolerability and pharmacokinetics of eteplirsen in ..:

Mercuri, E. ; Seferian, A.M. ; Servais, L....
Neuromuscular Disorders. 33 (2023) 6 - p. 476-483 , 2023

Link: https://doi.org/10.1016/..

2

Neonatal lactic acidosis explained by LARS2 defect:

De Paepe, Boel ; Smet, Joél ; Kopajtich, Robert...
Pediatric Research. 93 (2022) 4 - p. 740-743 , 2022

Link: https://doi.org/10.1038/..

3

Nonketotic Hyperglycinaemia and Lipoate Deficiency Disorder:

, In: Inborn Metabolic Diseases,

Van Hove, Johan L. K. ; Van Coster, Rudy - p. 459-469 , 2022

Link: https://doi.org/10.1007/..

4

RFC1repeat expansions: A recurrent cause of sensory and aut..:

Beijer, Danique ; Dohrn, Maike F. ; De Winter, Jonathan...
European Journal of Neurology. 29 (2022) 7 - p. 2156-2161 , 2022

Link: https://doi.org/10.1111/..

5

Shortcutting the diagnostic odyssey: the multidisciplinary ..:

Schuermans, Nika ; Hemelsoet, Dimitri ; Terryn, Wim...
Orphanet Journal of Rare Diseases. 17 (2022) 1 - p. , 2022

Link: https://doi.org/10.1186/..

6

Case report: Thirty-year progression of an EMPF1 encephalop..:

Lhuissier, Charlène ; Wagner, Bart E. ; Vincent, Amy...
Frontiers in Neurology. 13 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

7

Urine lactate concentration as a non-invasive screener for ..:

Boterberg, Sofie ; Vantroys, Elise ; De Paepe, Boel...
PLOS ONE. 17 (2022) 9 - p. e0274310 , 2022

Link: https://doi.org/10.1371/..

8

Prolyl endopeptidase-like is a (thio)esterase involved in m..:

Rosier, Karen ; McDevitt, Molly T. ; Smet, Joél...
iScience. 24 (2021) 12 - p. 103460 , 2021

Link: https://doi.org/10.1016/..

9

Phenotypic spectrum of the RBM10‐mediated intellectual disa..:

Kumps, Candy ; D'haenens, Erika ; Vergult, Sarah...
Clinical Genetics. 99 (2021) 3 - p. 449-456 , 2021

Link: https://doi.org/10.1111/..

10

Correction to: The long non-coding RNA SAMMSON is essential..:

Dewaele, Shanna ; Delhaye, Louis ; De Paepe, Boel...
Oncogene. 41 (2021) 1 - p. 146-146 , 2021

Link: https://doi.org/10.1038/..

11

High-resolution breakpoint junction mapping of proximally e..:

Lemmers, Richard J L F ; van der Vliet, Patrick J ; Granado, David San Leon...
Human Molecular Genetics. 31 (2021) 5 - p. 748-760 , 2021

Link: https://doi.org/10.1093/..

12

Phenotypes and genotypes in non‐consanguineous and consangu..:

Duerinckx, Sarah ; Désir, Julie ; Perazzolo, Camille...
Molecular Genetics & Genomic Medicine. 9 (2021) 9 - p. , 2021

Link: https://doi.org/10.1002/..

13

The long non-coding RNA SAMMSON is essential for uveal mela..:

Dewaele, Shanna ; Delhaye, Louis ; De Paepe, Boel...
Oncogene. 41 (2021) 1 - p. 15-25 , 2021

Link: https://doi.org/10.1038/..

14

Characteristics, Early Development and Outcome of Parent-Re..:

Boterberg, Sofie ; Van Coster, Rudy ; Roeyers, Herbert
Journal of Autism and Developmental Disorders. 49 (2019) 11 - p. 4603-4625 , 2019

Link: https://doi.org/10.1007/..

15

Functional characterization of novel MFSD8 pathogenic varia..:

Bauwens, Miriam ; Storch, Stephan ; Weisschuh, Nicole...
Clinical Genetics. 97 (2019) 3 - p. 426-436 , 2019

Link: https://doi.org/10.1111/..