E-LIB Suche - Ergebnisse für: Zonneveld-Huijssoon, Evelien

1

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/..

2

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/..

3

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/..

4

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/..

5

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/..

6

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/..

7

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/..

8

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/..

9

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/..

10

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/..

11

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/..

12

Punctate white matter lesions in full-term infants with neo..:

Weeke, Lauren C. ; Brilstra, Eva ; Braun, Kees P....
European Journal of Paediatric Neurology. 21 (2017) 2 - p. 396-403 , 2017

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

13

Nasal Co-Administration of ISS Increases the Arthritis-Prot..:

Zonneveld-Huijssoon, Evelien ; van Wijk, Femke ; de Jager, Wilco...
Clinical Immunology. 123 (2007) - p. S97 , 2007

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

14

Modulation of T Cell Function by Combination of Epitope Spe..:

Roord, Sarah T.A. ; Zonneveld-Huijssoon, Evelien ; Le, Tho...
PLoS ONE. 1 (2006) 1 - p. e87 , 2006

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

15

F.47. Mucosal Administration of a Hsp60 Peptide Protects Ag..:

Zonneveld-Huijssoon, Evelien ; de Jager, Wilco ; Ronaghy, Arash...
Clinical Immunology. 119 (2006) - p. S67 , 2006

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