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Springe zu: Zeitschriftenartikel
Anzahl der Publikationen: 5
Zeitschriftenartikel
Vill, Katharina; Müller-Felber, Wolfgang; Gläser, Dieter; Kuhn, Marius; Teusch, Veronika; Schreiber, Herbert; Weis, Joachim; Klepper, Jörg; Schirmacher, Anja; Blaschek, Astrid; Wiessner, Manuela; Strom, Tim M.; Draeger, Bianca; Hofmeister-Kiltz, Kristina; Tacke, Moritz; Gerstl, Lucia; Young, Peter; Horvath, Rita und Senderek, Jan
(2018):
SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy.
In: Human Genetics, Bd. 137, Nr. 11-12: S. 911-919
Mignot, Cyril; Stülpnagel, Celina von; Nava, Caroline; Ville, Dorothée; Sanlaville, Damien; Lesca, Gaetan; Rastetter, Agnès; Gachet, Benoit; Marie, Yannick; Korenke, G. Christoph; Borggräfe, Ingo; Hoffmann-Zacharska, Dorota; Szczepanik, Elzbieta; Rudzka-Dybala, Mariola; Yiş, Uluç; Çağlayan, Hande; Isapof, Arnaud; Marey, Isabelle; Panagiotakaki, Eleni; Korff, Christian; Rossier, Eva; Riess, Angelika; Beck-Woedl, Stefanie; Rauch, Anita; Zweier, Christiane; Hoyer, Juliane; Reis, André; Mironov, Mikhail; Bobylova, Maria; Mukhin, Konstantin; Hernandez-Hernandez, Laura; Maher, Bridget; Sisodiya, Sanjay; Kuhn, Marius; Glaeser, Dieter; Wechuysen, Sarah; Myers, Candace T.; Mefford, Heather C.; Hörtnagel, Konstanze; Biskup, Saskia; Lemke, Johannes R.; Héron, Delphine; Kluger, Gerhard und Depienne, Christel
(2016):
Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.
In: Journal of Medical Genetics, Bd. 53, Nr. 8: S. 511-522
[PDF, 1MB]
Kuhn, Marius; Gläser, Dieter; Joshi, Pushpa Raj; Zierz, Stephan; Wenninger, Stephan; Schoser, Benedikt und Deschauer, Marcus
(2016):
Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy.
In: Journal of Neurology, Bd. 263, Nr. 4: S. 743-750
Vogl, Ina; Benet-Pagès, Anna; Eck, Sebastian H.; Kuhn, Marius; Vosberg, Sebastian; Greif, Philipp A.; Metzeler, Klaus H.; Biskup, Saskia; Müller-Reible, Clemens und Klein, Hanns-Georg
(2013):
Applications and data analysis of next-generation sequencing.
In: Laboratoriumsmedizin - Journal of Laboratory Medicine, Bd. 37, Nr. 6: S. 305-315
[PDF, 2MB]
Vogl, Ina; Eck, Sebastian H.; Benet-Pages, Anna; Greif, Philipp A.; Hirv, Kaimo; Kotschote, Stefan; Kuhn, Marius; Gehring, Andrea; Bergmann, Carsten; Bolz, Hanno Joern; Stuhrmann, Manfred; Biskup, Saskia; Metzeler, Klaus H. und Klein, Hanns-Georg
(2012):
Diagnostic applications of next generation sequencing: working towards quality standards.
In: Laboratoriumsmedizin - Journal of Laboratory Medicine, Bd. 36, Nr. 4: S. 227-239
[PDF, 647kB]