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Publication
Property
Value
Working Groups
Winkelmann
Subproject
None
Open Access
No
Publication Type
Journal Article
Peer Reviewed
Yes
PMID
38547905
DOI
10.1055/s-0044-1782680
Publication Year
2024
Title
Genome Sequencing for Cases Unsolved by Exome Sequencing: Identifying a Single-Exon Deletion in TBCK in a Case from 30 Years Ago.
Journal
Neuropediatrics
ISSN
0174-304X
ESSN
1439-1899
URL
https://www.ncbi.nlm.nih.gov/pubmed/?term=38547905%5Buid%5D
Pages
260-264
Issue
4
Volume
55
Journal Abbreviation
Neuropediatrics
Authors
Jacob M, Brugger M, Andres S, Wagner M, Graf E, Berutti R, Tilch E, Pavlov M, Mayerhanser K, Hoefele J, Meitinger T, Winkelmann J, Brunet T
First Author
Jacob M
Last Author
Brunet T