E-LIB Suche - Ergebnisse für: Meuwissen, Marije

1

From diagnosis to treatment in genetic epilepsies: Implemen..:

De Wachter, Matthias ; Schoonjans, An-Sofie ; Weckhuysen, Sarah...
European Journal of Paediatric Neurology. 48 (2024) - p. 46-60 , 2024

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

2

Role of CAMK2D in neurodevelopment and associated condition:

Rigter, Pomme M.F. ; de Konink, Charlotte ; Dunn, Matthew J....
The American Journal of Human Genetics. 111 (2024) 2 - p. 364-382 , 2024

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

3

Novel presentation of AADC deficiency as a mild phenotype w..:

Thys, Liene ; Meuwissen, Marije ; Janssens, Katrien.
Heliyon. 10 (2024) 1 - p. e23746 , 2024

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

4

Abnormal fetal ultrasound leading to the diagnosis of ADNP ..:

Rosenblum, Jessica ; Van der Veeken, Lennart ; Aertsen, Michael..
European Journal of Medical Genetics. 66 (2023) 11 - p. 104855 , 2023

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

5

Confirmation of gray matter heterotopia as part of the DDX2..:

Thys, Liene ; Beysen, Diane ; Jansen, Anna..
American Journal of Medical Genetics Part A. , 2023

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

6

Functional and clinical studies reveal pathophysiological c..:

Palmer, Elizabeth E. ; Pusch, Michael ; Picollo, Alessandra...
Molecular Psychiatry. 28 (2022) 2 - p. 668-697 , 2022

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

7

Mutations in RNU7-1 Weaken Secondary RNA Structure, Induce ..:

Naesens, Leslie ; Nemegeer, Josephine ; Roelens, Filip...
Journal of Clinical Immunology. 42 (2022) 5 - p. 962-974 , 2022

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

8

Blood transcriptomics to facilitate diagnosis and stratific..:

Ha, My Kieu ; Bartholomeus, Esther ; Van Os, Luc...
Pediatric Rheumatology. 20 (2022) 1 - p. , 2022

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

9

Heterozygous variants in CTR9, which encodes a major compon..:

Meuwissen, Marije ; Verstraeten, Aline ; Ranza, Emmanuelle...
Genetics in Medicine. 24 (2022) 7 - p. 1583-1591 , 2022

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

10

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/..

11

Sleep‐disordered breathing and nocturnal hypoventilation in..:

Baelen, Amber ; Verhoustraeten, Louise ; Kenis, Sandra...
American Journal of Medical Genetics Part A. 182 (2020) 10 - p. 2437-2441 , 2020

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

12

Defining the phenotypical spectrum associated with variants..:

Brock, Stefanie ; Vanderhasselt, Tim ; Vermaning, Sietske...
Journal of Medical Genetics. 58 (2020) 1 - p. 33-40 , 2020

Link: https://doi.org/10.1136/..

13

Novel BRPF1 mutation in a boy with intellectual disability,..:

Demeulenaere, Sofie ; Beysen, Diane ; De Veuster, Ilse...
European Journal of Medical Genetics. 62 (2019) 8 - p. 103691 , 2019

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

14

Genetic variants in the KDM6B gene are associated with neur..:

Stolerman, Elliot S. ; Francisco, Elizabeth ; Stallworth, Jennifer L....
American Journal of Medical Genetics Part A. 179 (2019) 7 - p. 1276-1286 , 2019

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

15

Aberrant Function of the C-Terminal Tail of HIST1H1E Accele..:

Flex, Elisabetta ; Martinelli, Simone ; Van Dijck, Anke...
The American Journal of Human Genetics. 105 (2019) 3 - p. 493-508 , 2019

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