Examinant per Autoria "Straub, Volker"
Resultats per pàgina
Opcions d'ordenació
Ítem Accés Obert A founder variant in the RYR1 gene is associated with hyperCKemia, myalgia and muscle cramps(Wiley, 2025) Segarra Casas, Alba; Iruzubieta, Pablo; Kapetanovic, Solange; Hernández-Laín, Aurelio; Jericó, Ivonne; Fernández Torrón, Roberto; Maneiro, Miren; Marco Moreno, Pablo; Zelaya Huerta, M. Victoria; Rodríguez Santiago, Benjamín; Calafell i Majó, Francesc; Töpf, Ana; Straub, Volker; Vallejo Illarramendi, Ainara; López de Munain, Adolfo; Gallano, Pía; Gonzalez-Quereda, Lidia
Ítem Accés Obert Improving genetic diagnosis in Mendelian disease with transcriptome sequencing(American Association for the Advancement of Science (AAAS), 2017) Cummings, Beryl B.; Marshall, Jamie L.; Tukiainen, Taru; Lek, Monkol; Donkervoort, Sandra; Foley, A. Reghan; Bolduc, Veronique; Waddell, Leigh B.; Sandaradura, Sarah A.; O'Grady, Gina L.; Estrella, Elicia; Reddy, Hemakumar M.; Zhao, Fengmei; Weisburd, Ben; Karczewski, Konrad J.; O'Donnell-Luria, Anne H.; Birnbaum, Daniel; Sarkozy, Anna; Hu, Ying; Gonorazky, Hernan; Claeys, Kristi; Joshi, Adam Bournazos; Oates, Emily C.; Ghaoui, Roula; Davis, Mark R.; Laing, Nigel G.; Topf, Ana; Genotype-Tissue Expression (GTEx) Consortium; Kang, Peter B.; Beggs, Alan H.; North, Kathryn N.; Straub, Volker; Dowling, James J.; Muntoni, Francesco; Clarke, Nigel F.; Cooper, Sandra T.; Bönnemann, Carsten G.; Guigó Serra, Roderic
Ítem Accés Obert Longitudinal serum biomarker screening identifies malate dehydrogenase 2 as candidate prognostic biomarker for Duchenne muscular dystrophy(Wiley-VCH Verlag, 2020) Signorelli, Mirko; Ayoglu, Burcu; Johansson, Camilla; Lochmüller, Hanns; Straub, Volker; Muntoni, Francesco; Niks, Erik; Tsonaka, Roula; Persson, Anja; Aartsma-Rus, Annemieke; Nilsson, Peter; Al-Khalili Szigyarto, Cristina; Spitali, Pietro