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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Springe zu: 2024
Anzahl der Publikationen: 2
2024
Jacob, Maureen; Brugger, Melanie; Andres, Stephanie; Wagner, Matias; Graf, Elisabeth; Berutti, Riccardo; Tilch, Erik; Pavlov, Martin; Mayerhanser, Katharina; Hoefele, Julia; Meitinger, Thomas; Winkelmann, Juliane und Brunet, Theresa
(2024):
Genome Sequencing for Cases Unsolved by Exome Sequencing: Identifying a Single-Exon Deletion in TBCK in a Case from 30 Years Ago.
In: Neuropediatrics
Stehr, Antonia M. 
ORCID: https://orcid.org/0000-0001-9932-5187; Koeglsperger, Thomas ORCID: https://orcid.org/0000-0001-6101-0323; Jacob, Maureen; Rhodio, Valerio; Winkelmann, Juliane ORCID: https://orcid.org/0000-0002-3074-599X; Hopfner, Franziska ORCID: https://orcid.org/0000-0001-6524-0281 und Zech, Michael ORCID: https://orcid.org/0000-0001-8112-9153
(2024):
Tremor-Dominant Movement Disorder in ANKRD11- Associated KBG Syndrome.
In: Tremor and Other Hyperkinetic Movements, Bd. 14, Nr. 1, 48
[PDF, 1MB]
ORCID: https://orcid.org/0000-0001-9932-5187; Koeglsperger, Thomas ORCID: https://orcid.org/0000-0001-6101-0323; Jacob, Maureen; Rhodio, Valerio; Winkelmann, Juliane ORCID: https://orcid.org/0000-0002-3074-599X; Hopfner, Franziska ORCID: https://orcid.org/0000-0001-6524-0281 und Zech, Michael ORCID: https://orcid.org/0000-0001-8112-9153
(2024):
Tremor-Dominant Movement Disorder in ANKRD11- Associated KBG Syndrome.
In: Tremor and Other Hyperkinetic Movements, Bd. 14, Nr. 1, 48
[PDF, 1MB]