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Anzahl der Publikationen: 2
Zeitschriftenartikel
Niemela, Valter; Salih, Ammar; Solea, Daniela; Lindvall, Björn; Weinberg, Jan; Miltenberger, Gabriel; Granberg, Tobias; Tzovla, Aikaterini; Nordin, Love; Danfors, Torsten; Savitcheva, Irina; Dahl, Niklas und Paucar, Martin
(2020):
Phenotypic variability in chorea-acanthocytosis associated with novel VPS13A mutations.
In: Neurology-Genetics, Bd. 6, Nr. 3, e426
Wood, Libby; Bassez, Guillaume; Bleyenheuft, Corinne; Campbell, Craig; Cossette, Louise; Jimenez-Moreno, Aura Cecilia; Dai, Yi; Dawkins, Hugh; Diaz Manera, Jorge Alberto; Dogan, Celine; El Sherif, Rasha; Fossati, Barbara; Graham, Caroline; Hilbert, James; Kastreva, Kristinia; Kimura, En; Korngut, Lawrence; Kostera-Pruszczyk, Anna; Lindberg, Christopher; Lindvall, Björn; Luebbe, Elizabeth; Lusakowska, Anna; Mazanec, Radim; Meola, Giovani; Orlando, Liannna; Takahashi, Masanori P.; Peric, Stojan; Puymirat, Jack; Rakocevic-Stojanovic, Vidosava; Rodrigues, Miriam; Roxburgh, Richard; Schoser, Benedikt; Segovia, Sonia; Shatillo, Andriy; Thiele, Simone; Tournev, Ivailo; Engelen, Baziel van; Vohanka, Stanislav und Lochmüller, Hanns
(2018):
Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease.
In: Orphanet Journal of Rare Diseases
13:155
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