Examinant per Autoria "Papakonstantinou Ntalis, Anastasios"
Resultats per pàgina
Opcions d'ordenació
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 Solving patients with rare diseases through programmatic reanalysis of genome-phenome data(Nature Research, 2021) Matalonga, Leslie; Hernández Ferrer, Carles; Piscia, Davide; Tonda, Raúl; Laurie, Steven, 1973-; Fernández Callejo, Marcos; Picó, Daniel; Garcia-Linares, Carles; Papakonstantinou Ntalis, Anastasios; Corvò, Alberto; Joshi, Ricky S.; Diez, Hector; Gut, Ivo Glynne; Beltran, Sergi; Solve-RD Consortium
Ítem Accés Obert Systematic collaborative reanalysis of genomic data improves diagnostic yield in neurologic rare diseases(Elsevier, 2022) Bullich, Gemma; Matalonga, Leslie; Pujadas, Montserrat; Papakonstantinou Ntalis, Anastasios; Piscia, Davide; Tonda, Raúl; González, Juan Ramón; Laurie, Steven, 1973-; Luengo, Cristina; Ovelleiro, David; Parra Farré, Genís; Pérez Jurado, Luis Alberto; Beltran, Sergi; Undiagnosed Rare Disease Program of Catalonia (URD-Cat) Consortium
Ítem Accés Obert The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases(Wiley, 2022) Laurie, Steven, 1973-; Piscia, Davide; Matalonga, Leslie; Corvò, Alberto; Fernández Callejo, Marcos; Garcia-Linares, Carles; Hernandez-Ferrer, Carles, 1987-; Luengo, Cristina; Martínez, Inés; Papakonstantinou Ntalis, Anastasios; Picó-Amador, Daniel; Protasio, Joan; Tonda, Raúl; Bayés, Mònica; Bullich, Gemma; Camps-Puchadas, Jordi; Paramonov, Ida; Trotta, Jean-Remi; Pérez Jurado, Luis Alberto; Rambla de Argila, Jordi; Gut, Ivo Glynne; Lochmüller, Hanns; Beltran, Sergi