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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 3
2025
Jacob, Maureen; Kölbel, Heike; Harrer, Philip; Kopajtich, Robert; Munot, Pinki; Achleitner, Melanie T; Badmann, Susann; Brugger, Melanie 
ORCID: https://orcid.org/0000-0002-6920-8550; Brunet, Theresa ORCID: https://orcid.org/0000-0002-5183-780X; Bonne, Gisèle; Codina, Marta; Ebner, Laura; Eshraghi, Peyman; Eyring, Katharina; Farhat, Ahmad Shah; Feichtinger, René G; Graf, Elisabeth; Marcé-Grau, Anna; Hahn, Andreas; Houlden, Henry ORCID: https://orcid.org/0000-0002-2866-7777; Karimiani, Ehsan Ghayoor; Manel, Véronique; Mayerhanser, Katharina; Nectoux, Juliette; Nelson, Isabelle; Phadke, Rahul; Prokisch, Holger; Sadeghian, Saeid ORCID: https://orcid.org/0000-0002-7935-3401; Saparov, Alice; Schänzer, Anne ORCID: https://orcid.org/0000-0002-2014-2028; Schara-Schmidt, Ulrike; Schmidt, Julia; Schuler, Rahel; Sewry, Caroline; Shariati, Gholamreza; Slanz, Silke; Smirnov, Dmitrii; Sukenik-Halevy, Rivka; Tajsharghi, Homa; Toosi, Mehran Beiraghi; Trujillano, Laura; Weis, Joachim ORCID: https://orcid.org/0000-0003-3280-6773; Wilson, Louise C; Ben Yaou, Rabah; Zamani, Mina; Zech, Michael; Zschüntzsch, Jana; Kornak, Uwe; Goméz-Andrés, David ORCID: https://orcid.org/0000-0001-5654-7791; Maroofian, Reza ORCID: https://orcid.org/0000-0001-6763-1542; Winkelmann, Juliane; Roos, Andreas; Distelmaier, Felix ORCID: https://orcid.org/0000-0001-8460-3738; Mayr, Johannes A und Wagner, Matias ORCID: https://orcid.org/0000-0002-4454-8823
(2025):
Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy.
In: Brain, awaf227 [Forthcoming]
ORCID: https://orcid.org/0000-0002-6920-8550; Brunet, Theresa ORCID: https://orcid.org/0000-0002-5183-780X; Bonne, Gisèle; Codina, Marta; Ebner, Laura; Eshraghi, Peyman; Eyring, Katharina; Farhat, Ahmad Shah; Feichtinger, René G; Graf, Elisabeth; Marcé-Grau, Anna; Hahn, Andreas; Houlden, Henry ORCID: https://orcid.org/0000-0002-2866-7777; Karimiani, Ehsan Ghayoor; Manel, Véronique; Mayerhanser, Katharina; Nectoux, Juliette; Nelson, Isabelle; Phadke, Rahul; Prokisch, Holger; Sadeghian, Saeid ORCID: https://orcid.org/0000-0002-7935-3401; Saparov, Alice; Schänzer, Anne ORCID: https://orcid.org/0000-0002-2014-2028; Schara-Schmidt, Ulrike; Schmidt, Julia; Schuler, Rahel; Sewry, Caroline; Shariati, Gholamreza; Slanz, Silke; Smirnov, Dmitrii; Sukenik-Halevy, Rivka; Tajsharghi, Homa; Toosi, Mehran Beiraghi; Trujillano, Laura; Weis, Joachim ORCID: https://orcid.org/0000-0003-3280-6773; Wilson, Louise C; Ben Yaou, Rabah; Zamani, Mina; Zech, Michael; Zschüntzsch, Jana; Kornak, Uwe; Goméz-Andrés, David ORCID: https://orcid.org/0000-0001-5654-7791; Maroofian, Reza ORCID: https://orcid.org/0000-0001-6763-1542; Winkelmann, Juliane; Roos, Andreas; Distelmaier, Felix ORCID: https://orcid.org/0000-0001-8460-3738; Mayr, Johannes A und Wagner, Matias ORCID: https://orcid.org/0000-0002-4454-8823
(2025):
Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy.
In: Brain, awaf227 [Forthcoming]
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]