View publication

↩ Back to all publications
Publication
PropertyValue
Working Groups Winkelmann
SubprojectNone
Open AccessNo
Publication TypeJournal Article
Peer ReviewedYes
PMIDPubMed ID 38547905
DOIDOI 10.1055/s-0044-1782680
Publication Year2024
TitleGenome Sequencing for Cases Unsolved by Exome Sequencing: Identifying a Single-Exon Deletion in TBCK in a Case from 30 Years Ago.
JournalNeuropediatrics
ISSN0174-304X
ESSN1439-1899
URL https://www.ncbi.nlm.nih.gov/pubmed/?term=38547905%5Buid%5D
Pages260-264
Issue4
Volume55
Journal AbbreviationNeuropediatrics
AuthorsJacob 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 AuthorJacob M
Last AuthorBrunet T