E-LIB Suche - Ergebnisse für: Abicht, Angela

1

Optical Genome Mapping as a Potential Routine Clinical Diag..:

Barseghyan, Hayk ; Eisenreich, Doris ; Lindt, Evgenia...
Genes. 15 (2024) 3 - p. 342 , 2024

2

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/..

3

Analysis and occurrence of biallelic pathogenic repeat expa..:

Schaub, Annalisa ; Erdmann, Hannes ; Scholz, Veronika...
Journal of Neurology. , 2024

Link: https://doi.org/10.1007/..

4

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/..

5

The genetics of repeat disorders

development of novel long-read sequencing methods and pheno...

Erdmann, Hannes , 2023

Link: https://nbn-resolving.de..

6

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/..

7

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/..

8

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/..

9

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/..

10

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/..

11

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/..

12

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/..

13

Initial Clinical Experience with NIPT for Rare Autosomal An..:

Harasim, Thomas ; Neuhann, Teresa ; Behnecke, Anne...
Journal of Clinical Medicine. 11 (2022) 2 - p. 372 , 2022

Link: https://doi.org/10.3390/..

14

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/..

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/..