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Beijer, Danique
59
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Format
Online (59)
Mediatypes
Articles (Online) (24)
OpenAccess-fulltext (35)
Sorted by: Year
Sorted by: Relevance
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1
Recurrent ATP1A1 variant Gly903Arg causes developmental del..:
Dohrn, Maike F.
;
Bademci, Guney
;
Rebelo, Adriana P.
...
Annals of Clinical and Translational Neurology. 11 (2024) 4 - p. 1075-1079 , 2024
Link:
https://doi.org/10.1002/..
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2
Dominant NARS1 mutations causing axonal Charcot–Marie–Tooth..:
Beijer, Danique
;
Marte, Sheila
;
Li, Jiaxin C
...
Brain Communications. 6 (2024) 2 - p. , 2024
Link:
https://doi.org/10.1093/..
?
3
P171: Developing an approach to screening rare genetic diag..:
Cheerie, David
;
Lauffer, Marlen
;
Beijer, Danique
...
Genetics in Medicine Open. 2 (2024) - p. 101068 , 2024
Link:
https://doi.org/10.1016/..
?
4
A recurrent missense variant in ITPR3 causes demyelinating ..:
Beijer, Danique
;
Dohrn, Maike F
;
Rebelo, Adriana
...
Brain. , 2024
Link:
https://doi.org/10.1093/..
?
5
Standards of NGS Data Sharing and Analysis in Ataxias: Reco..:
Beijer, Danique
;
Fogel, Brent L.
;
Beltran, Sergi
...
The Cerebellum. 23 (2023) 2 - p. 391-400 , 2023
Link:
https://doi.org/10.1007/..
?
6
Genetic landscape of congenital insensitivity to pain and h..:
Lischka, Annette
;
Eggermann, Katja
;
Record, Christopher J
...
Brain. 146 (2023) 12 - p. 4880-4890 , 2023
Link:
https://doi.org/10.1093/..
?
7
Deep structured learning for variant prioritization in Mend..:
Danzi, Matt C.
;
Dohrn, Maike F.
;
Fazal, Sarah
...
Nature Communications. 14 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1038/..
?
8
A Solve-RD ClinVar-based reanalysis of 1522 index cases fro..:
Denommé-Pichon, Anne-Sophie
;
Matalonga, Leslie
;
de Boer, Elke
...
https://doi.org/10.1016/j.gim.2023.100018. , 2023
Link:
http://orbilu.uni.lu/han..
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9
Standards of NGS Data Sharing and Analysis in Ataxias: Reco..:
Beijer, Danique
;
Fogel, Brent L
;
Beltran, Sergi
...
info:eu-repo/semantics/altIdentifier/issn/1473-4222. , 2023
Link:
https://pub.dzne.de/reco..
?
10
Deep structured learning for variant prioritization in Mend..:
Matt C. Danzi
;
Maike F. Dohrn
;
Sarah Fazal
...
https://doi.org/10.1038/s41467-023-39306-7. , 2023
Link:
https://doi.org/10.1038/..
?
11
Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cere..:
Pellerin, David
;
Danzi, Matt C
;
Wilke, Carlo
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10042577/. , 2023
Link:
http://www.ncbi.nlm.nih...
?
12
Twist exome capture allows for lower average sequence cover..:
Yaldiz, Burcu
;
Kucuk, Erdi
;
Hampstead, Juliet
...
https://humgenomics.biomedcentral.com/articles/10.1186/s40246-023-00485-5. , 2023
Link:
http://orbilu.uni.lu/han..
?
13
Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cere..:
Pellerin, David
;
Danzi, Matt C
;
Wilke, Carlo
...
https://discovery.ucl.ac.uk/id/eprint/10162059/1/nejmoa2207406.pdf. , 2023
Link:
https://discovery.ucl.ac..
?
14
Genetic landscape of congenital insensitivity to pain and h..:
Lischka, Annette
;
Eggermann, Katja
;
Record, Christopher J
...
https://discovery.ucl.ac.uk/id/eprint/10181008/1/awad328.pdf. , 2023
Link:
https://discovery.ucl.ac..
?
15
RFC1repeat expansions: A recurrent cause of sensory and aut..:
Beijer, Danique
;
Dohrn, Maike F.
;
De Winter, Jonathan
...
European Journal of Neurology. 29 (2022) 7 - p. 2156-2161 , 2022
Link:
https://doi.org/10.1111/..
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