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Abicht, Angela
147
results:
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Format
Online (147)
Mediatypes
E-Books (1)
Articles (Online) (79)
OpenAccess-fulltext (64)
Thesis (Online) (3)
Languages
german (5)
english (121)
Sorted by: Relevance
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?
1
Analysis and occurrence of biallelic pathogenic repeat expa..:
Schaub, Annalisa
;
Erdmann, Hannes
;
Scholz, Veronika
...
Journal of Neurology. , 2024
Link:
https://doi.org/10.1007/..
?
2
Novel Genetic and Biochemical Insights into the Spectrum of..:
Della Marina, Adela
;
Hentschel, Andreas
;
Czech, Artur
...
Journal of Neuromuscular Diseases. 11 (2024) 3 - p. 625-645 , 2024
Link:
https://doi.org/10.3233/..
?
3
Optical Genome Mapping as a Potential Routine Clinical Diag..:
Barseghyan, Hayk
;
Eisenreich, Doris
;
Lindt, Evgenia
...
Genes. 15 (2024) 3 - p. 342 , 2024
Link:
https://doi.org/10.3390/..
?
4
A Homozygous NDUFS6 Variant Associated with Neuropathy and ..:
Gangfuß, Andrea
;
Rating, Philipp
;
Ferreira, Tomas
...
Journal of Neuromuscular Diseases. 11 (2024) 2 - p. 485-491 , 2024
Link:
https://doi.org/10.3233/..
?
5
The genetics of repeat disorders
development of novel long-read sequencing methods and pheno...
Erdmann, Hannes
, 2023
Link:
https://nbn-resolving.de..
?
6
Diagnostic yield and clinical relevance of expanded germlin..:
Henkel, Jan
;
Laner, Andreas
;
Locher, Melanie
...
European Journal of Human Genetics. 31 (2023) 8 - p. 925-930 , 2023
Link:
https://doi.org/10.1038/..
?
7
Prospective evaluation of NGS-based sequencing in epilepsy ..:
Witzel, Maximilian G. W.
;
Gebhard, Christian
;
Wenzel, Sören
...
Frontiers in Neurology. 14 (2023) - p. , 2023
Link:
https://doi.org/10.3389/..
?
8
Guideline for the management of myasthenic syndromes:
Wiendl, Heinz
;
Abicht, Angela
;
Chan, Andrew
...
Therapeutic Advances in Neurological Disorders. 16 (2023) - p. , 2023
Link:
https://doi.org/10.1177/..
?
9
Myofibrillar myopathy: a rare but important differential di..:
Petry-Schmelzer, Jan Niklas
;
Abicht, Angela
;
Barbe, Michael T.
.
Neurological Research and Practice. 5 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1186/..
?
10
Closing the Gap - Detection of 5q-Spinal Muscular Atrophy b..:
Kleinle, Stephanie
;
Scholz, Veronika
;
Benet-Pagés, Anna
...
Journal of Neuromuscular Diseases. 10 (2023) 5 - p. 835-846 , 2023
Link:
https://doi.org/10.3233/..
?
11
Reply: An epigenetic basis for genetic anticipation in faci..:
Erdmann, Hannes
;
Scharf, Florentine
;
Hallermayr, Ariane
...
Brain. 146 (2023) 12 - p. e111-e114 , 2023
Link:
https://doi.org/10.1093/..
?
12
Novel Homozygous FA2H Variant Causing the Full Spectrum of ..:
German, Alexander
;
Jukic, Jelena
;
Laner, Andreas
...
Genes. 15 (2023) 1 - p. 14 , 2023
Link:
https://doi.org/10.3390/..
?
13
Identification of a novel homozygoussynthesis of cytochrome..:
Gangfuß, Andrea
;
Hentschel, Andreas
;
Rademacher, Nina
...
Human Mutation. 43 (2022) 4 - p. 477-486 , 2022
Link:
https://doi.org/10.1002/..
?
14
Präkonzeptionsscreening:
Courage, Carolina
;
Koehler, Udo
;
Kleinle, Stephanie
...
Gynäkologische Endokrinologie. 20 (2022) 2 - p. 116-124 , 2022
Link:
https://doi.org/10.1007/..
?
15
Methylation of the 4q35 D4Z4 repeat defines disease status ..:
Erdmann, Hannes
;
Scharf, Florentine
;
Gehling, Stefanie
...
Brain. 146 (2022) 4 - p. 1388-1402 , 2022
Link:
https://doi.org/10.1093/..
1-15