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Anzahl der Publikationen: 2
Zeitschriftenartikel
Stehr, Antonia M.; Fischer, Jan; Mirza-Schreiber, Nazanin; Bernardi, Katerina; Porrmann, Joseph; Harrer, Philip; Kaiser, Frank; Jamra, Rami Abou; Winkelmann, Juliane 
ORCID: https://orcid.org/0000-0002-3074-599X; Jech, Robert; Koy, Anne; Oexle, Konrad und Zech, Michael
(2025):
Variable expressivity of KMT2B variants at codon 2565 in patients with dystonia and developmental disorders.
In: Parkinsonism & Related Disorders, Bd. 133, 107319
[PDF, 1MB]
ORCID: https://orcid.org/0000-0002-3074-599X; Jech, Robert; Koy, Anne; Oexle, Konrad und Zech, Michael
(2025):
Variable expressivity of KMT2B variants at codon 2565 in patients with dystonia and developmental disorders.
In: Parkinsonism & Related Disorders, Bd. 133, 107319
[PDF, 1MB]
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]