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Anzahl der Publikationen: 3
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]
Sorrentino, Ugo ORCID: https://orcid.org/0000-0001-8139-6198; Pavlov, Martin; Mirza‐Schreiber, Nazanin; Brugger, Melanie; Brunet, Theresa; Tsoma, Eugenia ORCID: https://orcid.org/0000-0002-0788-2961; Saparov, Alice; Dzinovic, Ivana; Harrer, Philip; Stehr, Antonia M. ORCID: https://orcid.org/0000-0001-9932-5187; Wagner, Matias ORCID: https://orcid.org/0000-0002-4454-8823; Tilch, Erik; Wallacher, Barbara; Alhasan, Shiraz; Koy, Anne ORCID: https://orcid.org/0000-0002-7991-4432; Di Fonzo, Alessio ORCID: https://orcid.org/0000-0001-6478-026X; Kolnikova, Miriam; Kusikova, Katarina; Havrankova, Petra ORCID: https://orcid.org/0000-0002-7731-5129; Tautanova, Raushana; Lösecke, Sandy; Eck, Sebastian; Boesch, Sylvia; Necpal, Jan ORCID: https://orcid.org/0000-0002-4626-9588; Skorvanek, Matej ORCID: https://orcid.org/0000-0001-5497-8715; Jech, Robert ORCID: https://orcid.org/0000-0002-9732-8947; Prokisch, Holger; Winkelmann, Juliane ORCID: https://orcid.org/0000-0002-3074-599X; Oexle, Konrad ORCID: https://orcid.org/0000-0001-7447-2252; Graf, Elisabeth und Zech, Michael ORCID: https://orcid.org/0000-0001-8112-9153
(2025):
Integrating Long‐Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia.
In: Movement Disorders [Forthcoming]
ORCID: https://orcid.org/0000-0001-8139-6198; Pavlov, Martin; Mirza‐Schreiber, Nazanin; Brugger, Melanie; Brunet, Theresa; Tsoma, Eugenia ORCID: https://orcid.org/0000-0002-0788-2961; Saparov, Alice; Dzinovic, Ivana; Harrer, Philip; Stehr, Antonia M. ORCID: https://orcid.org/0000-0001-9932-5187; Wagner, Matias ORCID: https://orcid.org/0000-0002-4454-8823; Tilch, Erik; Wallacher, Barbara; Alhasan, Shiraz; Koy, Anne ORCID: https://orcid.org/0000-0002-7991-4432; Di Fonzo, Alessio ORCID: https://orcid.org/0000-0001-6478-026X; Kolnikova, Miriam; Kusikova, Katarina; Havrankova, Petra ORCID: https://orcid.org/0000-0002-7731-5129; Tautanova, Raushana; Lösecke, Sandy; Eck, Sebastian; Boesch, Sylvia; Necpal, Jan ORCID: https://orcid.org/0000-0002-4626-9588; Skorvanek, Matej ORCID: https://orcid.org/0000-0001-5497-8715; Jech, Robert ORCID: https://orcid.org/0000-0002-9732-8947; Prokisch, Holger; Winkelmann, Juliane ORCID: https://orcid.org/0000-0002-3074-599X; Oexle, Konrad ORCID: https://orcid.org/0000-0001-7447-2252; Graf, Elisabeth und Zech, Michael ORCID: https://orcid.org/0000-0001-8112-9153
(2025):
Integrating Long‐Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia.
In: Movement Disorders [Forthcoming]
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]