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

DNA methylation episignature and comparative epigenomic pro..:

van der Laan, Liselot ; Lauffer, Peter ; Rooney, Kathleen...
Human Genetics and Genomics Advances.  5 (2024)  3 - p. 100289 , 2024
Link: https://doi.org/10.1016/..
 
?
2

The missing link: ARID1B non-truncating variants causing Co..:

Bosch, Elisabeth ; Güse, Esther ; Kirchner, Philipp...
Human Genetics.  143 (2024)  8 - p. 965-978 , 2024
Link: https://doi.org/10.1007/..
 
?
3

Diagnostic utility of DNA methylation analysis in genetical..:

LaFlamme, Christy W. ; Rastin, Cassandra ; Sengupta, Soham...
Nature Communications.  15 (2024)  1 - p. , 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

DNA methylation episignature, extension of the clinical fea..:

van der Laan, Liselot ; Karimi, Karim ; Rooney, Kathleen...
Genetics in Medicine.  26 (2024)  3 - p. 101050 , 2024
Link: https://doi.org/10.1016/..
 
?
6

Novel PUF60 variant suggesting an interaction between Verhe..:

Hoogenboom, Amarens ; Falix, Farah A. ; van der Laan, Liselot...
European Journal of Human Genetics.  32 (2024)  4 - p. 435-439 , 2024
Link: https://doi.org/10.1038/..
 
?
7

Identification of a pathogenic deep intronic variant in ATR..:

van der Smagt, Jasper J. ; Lampri, Angeliki P. ; de Lange, Iris...
European Journal of Medical Genetics.  69 (2024)  - p. 104949 , 2024
Link: https://doi.org/10.1016/..
 
?
8

Comprehensive EHMT1 variants analysis broadens genotype-phe..:

Rots, Dmitrijs ; Bouman, Arianne ; Yamada, Ayumi...
The American Journal of Human Genetics.  111 (2024)  8 - p. 1605-1625 , 2024
Link: https://doi.org/10.1016/..
 
?
9

Blepharophimosis with intellectual disability and Helsmoort..:

Sarli, Camilla ; van der Laan, Liselot ; Reilly, Jack...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics.  , 2024
Link: https://doi.org/10.1002/..
 
?
10

Refining the 9q34.3 microduplication syndrome reveals mild ..:

Rots, Dmitrijs ; Rooney, Kathleen ; Relator, Raissa...
Clinical Genetics.  105 (2024)  6 - p. 655-660 , 2024
Link: https://doi.org/10.1111/..
 
?
11

Functional Insight into and Refinement of the Genomic Bound..:

van der Laan, Liselot ; Rooney, Kathleen ; Haghshenas, Sadegheh...
International Journal of Molecular Sciences.  24 (2023)  18 - p. 14240 , 2023
Link: https://doi.org/10.3390/..
 
?
12

Correction: Clinical findings and a DNA methylation signatu..:

Wang, Jiyong ; Foroutan, Aidin ; Richardson, Ellen...
European Journal of Human Genetics.  , 2023
Link: https://doi.org/10.1038/..
 
?
13

Biallelic variants in the calpain regulatory subunit CAPNS1..:

Postma, Alex V. ; Rapp, Christina K. ; Knoflach, Katrin...
Genetics in Medicine Open.  1 (2023)  1 - p. 100811 , 2023
Link: https://doi.org/10.1016/..
 
?
14

DNA methylation episignature and comparative epigenomic pro..:

Rooney, Kathleen ; van der Laan, Liselot ; Trajkova, Slavica...
Genetics in Medicine.  25 (2023)  8 - p. 100871 , 2023
Link: https://doi.org/10.1016/..
 
?
15

Severe early‐onset overgrowth in a case of pseudohypoparath..:

Vos, Niels ; Menke, Leonie A. ; Mooij, Christiaan F....
American Journal of Medical Genetics Part A.  191 (2023)  5 - p. 1476-1478 , 2023
Link: https://doi.org/10.1002/..
 
1-15