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Springe zu: Zeitschriftenartikel
Anzahl der Publikationen: 2
Zeitschriftenartikel
Owen, David; Topf, Ana; Preethish-Kumar, Veeramani; Lorenzoni, Paulo Jose; Vroling, Bas; Scola, Rosana Herminia; Dias-Tosta, Elza; Geraldo, Argemiro; Polavarapu, Kiran; Nashi, Saraswati; Cox, Daniel; Evangelista, Teresinha; Dawson, John; Thompson, Rachel; Senderek, Jan; Laurie, Steven; Beltran, Sergi; Gut, Marta; Gut, Ivo; Nalini, Atchayaram und Lochmüller, Hanns
(2018):
Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness.
In: American Journal of Medical Genetics Part A, Bd. 176, Nr. 7: S. 1594-1601
Carrera, Caty; Jiménez-Conde, Jordi; Derdak, Sophia; Rabionet, Kelly; Vives-Bauza, Cristofol; Soriano-Tarrega, Carolina; Giralt-Steinhauer, Eva; Mola-Caminal, Marina; Diaz-Navarro, Rosa M.; Tur, Silvia; Muiño, Elena; Gallego-Fabrega, Cristina; Beltran, Sergi; Roquer, Jaume; Ruiz, Agustin; Sotolongo-Grau, Oscar; Krupinski, Jurek; Lee, Jin-Moo; Cruchaga, Carlos; Delgado, Pilar; Malik, Rainer; Worrall, Brad B.; Seshadri, Sudha; Montaner, Joan und Fernández-Cadenas, Israel
(2016):
Whole exome sequencing analysis reveals TRPV3 as a risk factor for cardioembolic stroke.
In: Thrombosis and Haemostasis, Bd. 116, Nr. 6: S. 1165-1171