I agree that this site is using cookies. You can find further informations here.
X
Reyniers, Edwin
96  results:
Search for persons X
?
1

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/..
 
?
2

Genetic Testing Contributes to Diagnosis in Cerebral Palsy:..:

Beysen, Diane ; De Cordt, Chania ; Dielman, Charlotte...
Frontiers in Neurology.  12 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
?
3

Copy number variation analysis in bicuspid aortic valve-rel..:

MIBAVA Leducq Consortium ; Luyckx, Ilse ; Kumar, Ajay A....
European Journal of Human Genetics.  27 (2019)  7 - p. 1033-1043 , 2019
Link: https://doi.org/10.1038/..
 
?
4

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/..
 
?
5

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/..
 
?
6

A higher rare CNV burden in the genetic background potentia..:

Jensen, Matthew ; Kooy, R. Frank ; Simon, Tony J....
European Journal of Medical Genetics.  61 (2018)  4 - p. 209-212 , 2018
Link: https://doi.org/10.1016/..
 
?
7

Loss-of-function mutations in the X-linked biglycan gene ca..:

Meester, Josephina A.N. ; Vandeweyer, Geert ; Pintelon, Isabel...
Genetics in Medicine.  19 (2017)  4 - p. 386-395 , 2017
Link: https://doi.org/10.1038/..
 
?
8

Mutations in two large pedigrees highlight the role of ZNF7..:

van der Werf, Ilse M. ; Van Dijck, Anke ; Reyniers, Edwin...
Gene.  605 (2017)  - p. 92-98 , 2017
Link: https://doi.org/10.1016/..
 
?
9

PLCB1 epileptic encephalopathies; Review and expansion of t..:

Schoonjans, An-Sofie ; Meuwissen, Marije ; Reyniers, Edwin..
European Journal of Paediatric Neurology.  20 (2016)  3 - p. 474-479 , 2016
Link: https://doi.org/10.1016/..
 
?
10

Novel microdeletions on chromosome 14q32.2 suggest a potent..:

van der Werf, Ilse M ; Buiting, Karin ; Czeschik, Christina...
European Journal of Human Genetics.  24 (2016)  12 - p. 1724-1729 , 2016
Link: https://doi.org/10.1038/..
 
?
11

Dominant variants in the splicing factor PUF60 cause a reco..:

El Chehadeh, Salima ; Kerstjens-Frederikse, Wilhelmina S ; Thevenon, Julien...
European Journal of Human Genetics.  25 (2016)  1 - p. 43-51 , 2016
Link: https://doi.org/10.1038/..
 
?
12

Five patients with a chromosome 1q21.1 triplication show ma..:

Van Dijck, Anke ; van der Werf, Ilse M. ; Reyniers, Edwin...
European Journal of Medical Genetics.  58 (2015)  10 - p. 503-508 , 2015
Link: https://doi.org/10.1016/..
 
?
13

FRA2A Is a CGG Repeat Expansion Associated with Silencing o..:

Metsu, Sofie ; Rooms, Liesbeth ; Rainger, Jacqueline...
PLoS Genetics.  10 (2014)  4 - p. e1004242 , 2014
Link: https://doi.org/10.1371/..
 
?
14

Familial hypertryptasemia with associated mast cell activat..:

Sabato, Vito ; Van De Vijver, Els ; Hagendorens, Margo...
Journal of Allergy and Clinical Immunology.  134 (2014)  6 - p. 1448-1450.e3 , 2014
Link: https://doi.org/10.1016/..
 
?
15

Haploinsufficiency of CMIP in a Girl With Autism Spectrum D..:

Van der Aa, Nathalie ; Vandeweyer, Geert ; Reyniers, Edwin...
Autism Research.  5 (2012)  4 - p. 277-281 , 2012
Link: https://doi.org/10.1002/..
 
1-15