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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 5
2022
Erdmann, Hannes; Schoeberl, Florian; Giurgiu, Madalina; Silva, Rafaela Magalhaes Leal; Scholz, Veronika; Scharf, Florentine; Wendlandt, Martin; Kleinle, Stephanie; Deschauer, Marcus; Nuebling, Georg; Heide, Wolfgang; Babacan, Sait Seymen; Schneider, Christine; Neuhann, Teresa; Hahn, Katrin; Schoser, Benedikt; Holinski-Feder, Elke; Wolf, Dieter A. und Abicht, Angela
(2022):
Parallel in-depth analysis of repeat expansions in ataxia patients by long-read sequencing.
In: Brain, Bd. 146, Nr. 5: S. 1831-1843
2021
Schöberl, Florian; Abicht, Angela; Kuepper, Clemens; Voelk, Stefanie; Sonnenfeld, Stefan; Tonon, Matthias; Schaub, Annalisa; Scholz, Veronika; Kleinle, Stephanie; Erdmann, Hannes; Wolf, Dieter A. und Reilich, Peter
(2021):
Sensory neuropathy due to RFC1 in a patient with ALS: more than a coincidence?
In: Journal of neurology
[PDF, 488kB]
Schön, Ulrike; Holzer, Anna; Laner, Andreas; Kleinle, Stephanie; Scharf, Florentine; Benet-Pages, Anna; Peschel, Oliver; Holinski-Feder, Elke und Diebold, Isabel
(2021):
HPO-driven virtual gene panel: a new efficient approach in molecular autopsy of sudden unexplained death.
In: BMC Medical Genomics, Bd. 14, Nr. 1, 94
2020
Stendel, Claudia; Neuhofer, Christiane; Floride, Elisa; Shi, Yuqing; Ganetzky, Rebecca D.; Park, Joohyun; Freisinger, Peter; Kornblum, Cornelia; Kleinle, Stephanie; Schoels, Ludger; Distelmaier, Felix; Stettner, Georg M.; Buechner, Boriana; Falk, Marni J.; Mayr, Johannes A.; Synofzik, Matthis; Abicht, Angela; Haack, Tobias B.; Prokisch, Holger; Wortmann, Saskia B.; Murayama, Kei; Fang, Fang und Klopstock, Thomas
(2020):
Delineating MT-ATP6-associated disease.
In: Neurology-Genetics, Bd. 6, Nr. 1, e393
[PDF, 543kB]
2018
Abicht, Angela; Scharf, Florentine; Kleinle, Stephanie; Schön, Ulrike; Holinski-Feder, Elke; Horvath, Rita; Benet-Pages, Anna und Diebold, Isabel
(2018):
Mitochondrial and nuclear disease panel (Mito-aND-Panel): Combined sequencing of mitochondrial and nuclear DNA by a cost-effective and sensitive NGS-based method.
In: Molecular Genetics & Genomic Medicine