Ich stimme zu, dass diese Seite Cookies verwende. Weitere Informationen finden Sie unter unseren Datenschutzerklärungen .
X
Zonneveld‐Huijssoon, Evelien
75  Ergebnisse:
Personensuche X
?
1

POU3F3‐related disorder: Defining the phenotype and expandi..:

Rossi, Alessandra ; Blok, Lot Snijders ; Neuser, Sonja...
Clinical Genetics.  104 (2023)  2 - p. 186-197 , 2023
Link: https://doi.org/10.1111/..
 
?
2

Epilepsy is an important feature of KBG syndrome associated..:

Buijsse, Nathan ; Jansen, Floor E. ; Ockeloen, Charlotte W....
Epilepsia Open.  8 (2023)  4 - p. 1300-1313 , 2023
Link: https://doi.org/10.1002/..
 
?
3

Brief Report: Autologous Stem Cell Transplantation Restores..:

Delemarre, Eveline M. ; Roord, Sarah T. A. ; van den Broek, Theo...
Arthritis & Rheumatology.  66 (2014)  2 - p. 350-356 , 2014
Link: https://doi.org/10.1002/..
 
?
4

Safety and efficacy of meningococcal c vaccination in juven..:

Zonneveld‐Huijssoon, Evelien ; Ronaghy, Arash ; Van Rossum, Marion A. J....
Arthritis & Rheumatism.  56 (2007)  2 - p. 639-646 , 2007
Link: https://doi.org/10.1002/..
 
?
5

Identification of DNA methylation episignature for the inte..:

Karimi, Karim ; Mol, Merel O. ; Haghshenas, Sadegheh...
Genetics in Medicine.  26 (2024)  3 - p. 101041 , 2024
Link: https://doi.org/10.1016/..
 
?
6

Trio-based whole exome sequencing in patients with suspecte..:

Hebert, Anne ; Simons, Annet ; Schuurs-Hoeijmakers, Janneke HM...
eLife.  11 (2022)  - p. , 2022
Link: https://doi.org/10.7554/..
 
?
7

Implementation of Early Next-Generation Sequencing for Inbo..:

Elsink, Kim ; Huibers, Manon M. H. ; Hollink, Iris H. I. M....
Frontiers in Immunology.  12 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
?
8

De novo ARHGEF9 missense variants associated with neurodeve..:

Scala, Marcello ; Zonneveld-Huijssoon, Evelien ; Brienza, Marianna...
neurogenetics.  22 (2020)  1 - p. 87-94 , 2020
Link: https://doi.org/10.1007/..
 
?
9

ISSAID/EMQN Best Practice Guidelines for the Genetic Diagno..:

Touitou, Isabelle ; van Gijn, Marielle E ; Zonneveld-Huijssoon, Evelien...
Clinical Chemistry.  66 (2020)  4 - p. 525-536 , 2020
Link: https://doi.org/10.1093/..
 
?
10

National external quality assessment for next-generation se..:

Elsink, Kim ; Huibers, Manon M. H. ; Hollink, Iris H. I. M....
European Journal of Human Genetics.  29 (2020)  1 - p. 20-28 , 2020
Link: https://doi.org/10.1038/..
 
?
11

Germline AGO2 mutations impair RNA interference and human n..:

Lessel, Davor ; Zeitler, Daniela M. ; Reijnders, Margot R. F....
Nature Communications.  11 (2020)  1 - p. , 2020
Link: https://doi.org/10.1038/..
 
?
12

Improving the diagnostic yield of exome- sequencing by pred..:

Deelen, Patrick ; van Dam, Sipko ; Herkert, Johanna C....
Nature Communications.  10 (2019)  1 - p. , 2019
Link: https://doi.org/10.1038/..
 
?
13

Cohesin complex-associated holoprosencephaly:

Muenke, Maximilian ; Lipinski, Robert J ; Wendt, Kerstin S...
Brain.  142 (2019)  9 - p. 2631-2643 , 2019
Link: https://doi.org/10.1093/..
 
?
14

CTCF variants in 39 individuals with a variable neurodevelo..:

Konrad, Enrico D.H. ; Nardini, Niels ; Caliebe, Almuth...
Genetics in Medicine.  21 (2019)  12 - p. 2723-2733 , 2019
Link: https://doi.org/10.1038/..
 
?
15

Ribosomal protein gene RPL9 variants can differentially imp..:

Lezzerini, Marco ; Penzo, Marianna ; O'Donohue, Marie-Françoise...
Nucleic Acids Research.  48 (2019)  2 - p. 770-787 , 2019
Link: https://doi.org/10.1093/..
 
1-15