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

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/..
 
?
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

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/..
 
?
4

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/..
 
?
5

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/..
 
?
6

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/..
 
?
7

Mutations in MYO9B are associated with Charcot–Marie–Tooth ..:

Cipriani, Silvia ; Guerrero‐Valero, Marta ; Tozza, Stefano...
European Journal of Neurology.  30 (2022)  2 - p. 511-526 , 2022
Link: https://doi.org/10.1111/..
 
?
8

Heterozygous POLG variant Ser1181Asn co-segregating in a fa..:

Dohrn, Maike F. ; Heller, Corina ; Zengeler, Diana...
Neurological Research and Practice.  4 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
?
9

Commentary: SPTBN5, encoding the βV-spectrin protein, leads..:

Beijer, Danique ; Züchner, Stephan L.
Frontiers in Molecular Neuroscience.  15 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
?
10

De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spa..:

Van de Vondel, Liedewei ; De Winter, Jonathan ; Beijer, Danique...
Movement Disorders.  37 (2022)  6 - p. 1175-1186 , 2022
Link: https://doi.org/10.1002/..
 
?
11

Ataxia And Cough Are Indicative For Biallelic RFC1 Repeat E..:

Beijer, Danique ; Dohrn, Maike ; De Winter, Jonathan...
Neurology.  98 (2022)  18_supplement - p. , 2022
Link: https://doi.org/10.1212/..
 
?
12

BiP inactivation due to loss of the deAMPylation function o..:

Rebelo, Adriana P. ; Ruiz, Ariel ; Dohrn, Maike F....
Genetics in Medicine.  24 (2022)  12 - p. 2487-2500 , 2022
Link: https://doi.org/10.1016/..
 
?
13

Heterozygous POLG variant Ser1181Asn is associated with aut..:

Dohrn, Maike F. ; Beijer, Danique ; Mulahasanovic, Lejla
Neurological Research and Practice.  4 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
?
14

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/..
 
?
15

Characterization of HNRNPA1 mutations defines diversity in ..:

Beijer, Danique ; Kim, Hong Joo ; Guo, Lin...
JCI Insight.  6 (2021)  14 - p. , 2021
Link: https://doi.org/10.1172/..
 
1-15