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Smits, Daphne J
77
results:
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Online (77)
Mediatypes
Articles (Online) (16)
Bookchapter (Online) (1)
OpenAccess-fulltext (60)
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?
1
Biallelic NDC1 variants that interfere with ALADIN binding ..:
Smits, Daphne J.
;
Dekker, Jordy
;
Douben, Hannie
...
Human Genetics and Genomics Advances. , 2024
Link:
https://doi.org/10.1016/..
?
2
SMPD4 regulates mitotic nuclear envelope dynamics and its l..:
Smits, Daphne J
;
Schot, Rachel
;
Krusy, Nathalie
...
Brain. 146 (2023) 8 - p. 3528-3541 , 2023
Link:
https://doi.org/10.1093/..
?
3
De novo MCM6 variants in neurodevelopmental disorders: a re..:
Smits, Daphne J.
;
Schot, Rachel
;
Popescu, Cristiana A.
...
Human Genetics. 142 (2023) 7 - p. 949-964 , 2023
Link:
https://doi.org/10.1007/..
?
4
Rare germline heterozygous missense variants in BRCA1-assoc..:
Küry, Sébastien
;
Ebstein, Frédéric
;
Mollé, Alice
...
The American Journal of Human Genetics. 109 (2022) 2 - p. 361-372 , 2022
Link:
https://doi.org/10.1016/..
?
5
CLEC16A interacts with retromer and TRIM27, and its loss im..:
Smits, Daphne J.
;
Dekker, Jordy
;
Schot, Rachel
...
Human Genetics. 142 (2022) 3 - p. 379-397 , 2022
Link:
https://doi.org/10.1007/..
?
6
Reduction of oxidative stress suppresses poly-GR-mediated t..:
Riemslagh, Fréderike W.
;
Verhagen, Rob F. M.
;
van der Toorn, Esmay C.
...
Disease Models & Mechanisms. 14 (2021) 11 - p. , 2021
Link:
https://doi.org/10.1242/..
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7
Multidisciplinary interaction and MCD gene discovery. The p..:
Mancini, Grazia M.S.
;
Smits, Daphne J.
;
Dekker, Jordy
...
European Journal of Paediatric Neurology. 35 (2021) - p. 27-34 , 2021
Link:
https://doi.org/10.1016/..
?
8
SMPD4 regulates mitotic nuclear envelope dynamics and its l..:
Smits, Daphne J
;
Schot, Rachel
;
Krusy, Nathalie
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10393401/. , 2023
Link:
http://www.ncbi.nlm.nih...
?
9
Expanding the Allelic Heterogeneity of ANO10-Associated Aut..:
Massey, Sean
;
Guo, Yiran
;
Riley, Lisa G
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9872716/. , 2023
Link:
http://www.ncbi.nlm.nih...
?
10
De novo MCM6 variants in neurodevelopmental disorders: a re..:
Smits, Daphne J
;
Schot, Rachel
;
Popescu, Cristiana A
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10329600/. , 2023
Link:
http://www.ncbi.nlm.nih...
?
11
Web-accessible application for identifying pathogenic trans..:
Dekker, Jordy
;
Schot, Rachel
;
Bongaerts, Michiel
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9943747/. , 2023
Link:
http://www.ncbi.nlm.nih...
?
12
Rare germline heterozygous missense variants in BRCA1-assoc..:
Küry, Sébastien
;
Ebstein, Frédéric
;
Mollé, Alice
...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2021.12.011. , 2022
Link:
https://hal.science/hal-..
?
13
Rare germline heterozygous missense variants in BRCA1-assoc..:
Küry, Sébastien
;
Ebstein, Frédéric
;
Mollé, Alice
...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2021.12.011. , 2022
Link:
https://hal.science/hal-..
?
14
Rare germline heterozygous missense variants in BRCA1-assoc..:
Küry, Sébastien
;
Ebstein, Frédéric
;
Mollé, Alice
...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2021.12.011. , 2022
Link:
https://hal.science/hal-..
?
15
Rare germline heterozygous missense variants in BRCA1-assoc..:
Küry, Sébastien
;
Ebstein, Frédéric
;
Mollé, Alice
...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2021.12.011. , 2022
Link:
https://hal.science/hal-..
1-15
