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Kölbel, Bernd
12
results:
english X
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Format
Online (12)
Mediatypes
Articles (Online) (4)
OpenAccess-fulltext (8)
Sorted by: Relevance
Sorted by: Year
?
1
A de novoCSDE1 variant causing neurodevelopmental delay, in..:
Gangfuß, Andrea
;
Lochmüller, Hanns
;
Töpf, Ana
...
American Journal of Medical Genetics Part A. 188 (2021) 1 - p. 283-291 , 2021
Link:
https://doi.org/10.1002/..
?
2
Intellectual disability associated with craniofacial dysmor..:
Gangfuß, Andrea
;
Yigit, Gökhan
;
Altmüller, Janine
...
American Journal of Medical Genetics Part A. 185 (2021) 4 - p. 1216-1221 , 2021
Link:
https://doi.org/10.1002/..
?
3
Clinical Course, Myopathology and Challenge of Therapeutic ..:
Della Marina, Adela
;
Pawlitzki, Marc
;
Ruck, Tobias
...
Children. 8 (2021) 9 - p. 721 , 2021
Link:
https://doi.org/10.3390/..
?
4
Further evidence for POMK as candidate gene for WWS with me..:
Paul, Luisa
;
Rupprich, Katrin
;
Della Marina, Adela
...
Orphanet Journal of Rare Diseases. 15 (2020) 1 - p. , 2020
Link:
https://doi.org/10.1186/..
?
5
A de novo CSDE1 variant causing neurodevelopmental delay, i..:
Gangfuß, Andrea
;
Lochmüller, Hanns
;
Töpf, Ana
...
https://freidok.uni-freiburg.de/data/221216. , 2022
Link:
https://freidok.uni-frei..
?
6
Clinical Course, Myopathology and Challenge of Therapeutic ..:
Della Marina, Adela
;
Pawlitzki, Marc
;
Ruck, Tobias
...
https://doi.org/10.3390/children8090721. , 2021
Link:
https://doi.org/10.3390/..
?
7
Clinical Course, Myopathology and Challenge of Therapeutic ..:
Della Marina, Adela
;
Pawlitzki, Marc
;
Ruck, Tobias
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8470706/. , 2021
Link:
http://www.ncbi.nlm.nih...
?
8
Further evidence for POMK as candidate gene for WWS with me..:
Paul, Luisa
;
Rupprich, Katrin
;
Della Marina, Adela
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7488248/. , 2020
Link:
http://www.ncbi.nlm.nih...
?
9
A de novo CSDE1 variant causing neurodevelopmental delay, i..:
Gangfuß, Andrea
;
Lochmüller, Hanns
;
Töpf, Ana
...
info:eu-repo/grantAgreement/EC/H2020/779257. ,
Link:
http://hdl.handle.net/10..
?
10
Clinical Course, Myopathology and Challenge of Therapeutic ..:
Adela Della Marina
;
Marc Pawlitzki
;
Tobias Ruck
...
https://www.mdpi.com/2227-9067/8/9/721. , 2021
Link:
https://doi.org/10.3390/..
?
11
Clinical Course, Myopathology and Challenge of Therapeutic ..:
Adela Della Marina
;
Marc Pawlitzki
;
Tobias Ruck
...
Child Neurology. , 2021
Link:
https://doi.org/10.3390/..
?
12
Further evidence for POMK as candidate gene for WWS with me..:
Luisa Paul
;
Katrin Rupprich
;
Adela Della Marina
...
http://link.springer.com/article/10.1186/s13023-020-01454-0. , 2020
Link:
https://doi.org/10.1186/..
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