Examinant per Autoria "Missier, Paolo"
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Ítem Accés Obert Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder(Wiley-VCH Verlag, 2019) Thompson, Rachel; Papakonstantinou Ntalis, Anastasios; Beltran, Sergi; Topf, Ana; de Paula Estephan, Eduardo; Poloavarapu, Kiran; Hoen, Peter A. C.; Missier, Paolo; Lochmüller, Hanns
Ítem Accés Obert Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome(Portland Press, 2019) Thompson, Rachel; Bonne, Gisèle; Missier, Paolo; Lochmüller, Hanns