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Alders, Marielle
225
results:
Search for persons
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Format
Online (225)
Mediatypes
Articles (Online) (85)
Bookchapter (Online) (1)
OpenAccess-fulltext (139)
Sorted by: Relevance
Sorted by: Year
?
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/..
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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