E-LIB Suche - Ergebnisse für: Kooy, R. Frank

1

Prevalence of comorbidities in individuals with neurodevelo..:

Dingemans, Alexander J. M. ; Jansen, Sandra ; van Reeuwijk, Jeroen...
Nature Medicine. 30 (2024) 7 - p. 1994-2003 , 2024

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

2

ADNP dysregulates methylation and mitochondrial gene expres..:

D'Incal, Claudio ; Van Dijck, Anke ; Ibrahim, Joe...
Acta Neuropathologica Communications. 12 (2024) 1 - p. , 2024

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

3

Identification of a DLG3 stop mutation in the MRX20 family:

Huyghebaert, Jolien ; Mateiu, Ligia ; Elinck, Ellen...
European Journal of Human Genetics. , 2024

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

4

Loss-of-function of activity-dependent neuroprotective prot..:

D'Incal, Claudio Peter ; Annear, Dale John ; Elinck, Ellen...
European Journal of Human Genetics. 32 (2024) 6 - p. 630-638 , 2024

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

5

Burden re-analysis of neurodevelopmental disorder cohorts f..:

Smal, Noor ; Majdoub, Fatma ; Janssens, Katrien...
European Journal of Human Genetics. , 2024

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

6

Tracing the invisible mutant ADNP protein in Helsmoortel-Va..:

D'Incal, Claudio Peter ; Cappuyns, Elisa ; Choukri, Kaoutar...
Scientific Reports. 14 (2024) 1 - p. , 2024

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

7

Unravelling the link between neurodevelopmental disorders a..:

Annear, Dale J. ; Kooy, R. Frank ; Yuen, Ryan
Emerging Topics in Life Sciences. 7 (2023) 3 - p. 265-275 , 2023

Link: https://doi.org/10.1042/..

8

Insight and Recommendations for Fragile X-Premutation-Assoc..:

Tassone, Flora ; Protic, Dragana ; Allen, Emily Graves...
Cells. 12 (2023) 18 - p. 2330 , 2023

Link: https://doi.org/10.3390/..

9

Differential effect of panic on the DNA methylation of the ..:

Fransen, Erik ; Cassiers, Laura L.M. ; Chubar, Viktoriia...
Psychiatric Genetics. 33 (2023) 4 - p. 134-144 , 2023

Link: https://doi.org/10.1097/..

10

PhenoScore quantifies phenotypic variation for rare genetic..:

Dingemans, Alexander J. M. ; Hinne, Max ; Truijen, Kim M. G....
Nature Genetics. 55 (2023) 9 - p. 1598-1607 , 2023

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

11

Chromatin remodeler Activity-Dependent Neuroprotective Prot..:

D'Incal, Claudio Peter ; Van Rossem, Kirsten Esther ; De Man, Kevin...
Clinical Epigenetics. 15 (2023) 1 - p. , 2023

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

12

Mouse models of fragile X-related disorders:

Willemsen, Rob ; Kooy, R. Frank
Disease Models & Mechanisms. 16 (2023) 2 - p. , 2023

Link: https://doi.org/10.1242/..

13

ADNP in reverse gear:

D'Incal, Claudio Peter ; Kooy, R. Frank
European Journal of Human Genetics. 31 (2023) 8 - p. 849-850 , 2023

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

14

Protein interaction network analysis reveals genetic enrich..:

Koçoğlu, Cemile ; Ferrari, Raffaele ; Roes, Maxime...
Neurobiology of Aging. 116 (2022) - p. 67-79 , 2022

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

15

Towards Kinase Inhibitor Therapies for Fragile X Syndrome: ..:

D'Incal, Claudio ; Broos, Jitse ; Torfs, Thierry..
Cells. 11 (2022) 8 - p. 1325 , 2022

Link: https://doi.org/10.3390/..