E-LIB Suche - Ergebnisse für: Vansenne, Fleur

1

Bi-allelic variants in NAE1 cause intellectual disability, ..:

Muffels, Irena J.J. ; Schene, Imre F. ; Rehmann, Holger...
The American Journal of Human Genetics. 110 (2023) 1 - p. 146-160 , 2023

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

2

Pathogenetic Insights into Developmental Coordination Disor..:

Garofalo, Martinica ; Vansenne, Fleur ; Sival, Deborah A..
Brain Sciences. 13 (2023) 12 - p. 1625 , 2023

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

3

Pathogenic TRIO variants associated with neurodevelopmental..:

Bonnet, Maxime ; Roche, Fiona ; Fagotto-Kaufmann, Christine...
Molecular Psychiatry. 28 (2023) 4 - p. 1527-1544 , 2023

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

4

Extending the phenotypes associated with TRIO gene variants..:

Gazdagh, Gabriella ; Hunt, David ; Gonzalez, Anna Maria Cueto...
American Journal of Medical Genetics Part A. 191 (2023) 7 - p. 1722-1740 , 2023

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

5

Phenotypic expansion of EGP5-related Vici syndrome: 15 Dutc..:

Vansenne, Fleur ; Fock, Johanna M. ; Stolte-Dijkstra, Irene...
European Journal of Paediatric Neurology. 41 (2022) - p. 91-98 , 2022

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

6

How to detect late-onset inborn errors of metabolism in pat..:

Koens, Lisette H. ; de Vries, Jeroen J. ; Vansenne, Fleur..
Parkinsonism & Related Disorders. 85 (2021) - p. 124-132 , 2021

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

7

Opposite Modulation of RAC1 by Mutations in TRIO Is Associa..:

Barbosa, Sónia ; Greville-Heygate, Stephanie ; Bonnet, Maxime...
The American Journal of Human Genetics. 106 (2020) 3 - p. 338-355 , 2020

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

8

De novo variants in CAMTA1 cause a syndrome variably associ..:

Wijnen, Iris G. M. ; Veenstra-Knol, Hermine E. ; Vansenne, Fleur...
European Journal of Human Genetics. 28 (2020) 6 - p. 763-769 , 2020

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

9

Fever-Induced Paroxysmal Weakness and Encephalopathy (FIPWE..:

Sival, Deborah A. ; Vansenne, Fleur ; Van der Hout, Annemieke H...
Pediatric Neurology. 81 (2018) - p. 57-58 , 2018

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

10

A genotype-first approach identifies an intellectual disabi..:

Jansen, Sandra ; Hoischen, Alexander ; Coe, Bradley P....
European Journal of Human Genetics. 26 (2017) 1 - p. 54-63 , 2017

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

11

Trisomy 4 mosaicism: Delineation of the phenotype:

Bouman, Arjan ; van der Kevie‐Kersemaekers, Anne‐Marie ; Huijsdens‐van Amsterdam, Karin...
American Journal of Medical Genetics Part A. 170 (2016) 4 - p. 1040-1045 , 2016

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

12

Phenotype, cancer risk, and surveillance in Beckwith–Wiedem..:

Maas, Saskia M. ; Vansenne, Fleur ; Kadouch, Daniel J. M....
American Journal of Medical Genetics Part A. 170 (2016) 9 - p. 2248-2260 , 2016

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

13

The effects of screening on health behaviour: a summary of ..:

Deutekom, Marije ; Vansenne, Fleur ; McCaffery, Kirsten...
Journal of Public Health. 33 (2011) 1 - p. 71-79 , 2011

Link: https://www.jstor.org/st..

14

Low uptake of prenatal diagnosis after established carrier ..:

Vansenne, Fleur ; de Borgie, Corianne A.J.M. ; Korevaar, Johanna C....
Fertility and Sterility. 94 (2010) 1 - p. 296-300.e3 , 2010

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

15

724: Cost-effectiveness of chromosome analysis in couples w..:

Van Leeuwen, Marsha ; Vansenne, Fleur ; Korevaar, Joke...
American Journal of Obstetrics and Gynecology. 201 (2009) 6 - p. S262 , 2009

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