Examinant per Autoria "Bullich, Gemma"
Resultats per pàgina
Opcions d'ordenació
Ítem Accés Obert Clinical and genetic features of autosomal dominant alport syndrome: a case series(Elsevier, 2021) Furlano, Mónica; Martínez, Víctor; Pybus Oliveras, Marc, 1985-; Arce, Yolanda; Crespi, Jaume; Del Prado Venegas, María; Bullich, Gemma; Domingo, Andrea; Ayasreh, Nadia; Benito, Sílvia; Lorente, Laura; Ruiz, Patricia; López Gonzalez, Vanesa; Arlandis, Rosa; Cabello, Elisa; Torres, Ferran; Guirado, Lluis; Ars, Elisabet; Torra, Roser
Ítem Accés Obert ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization(BioMed Central, 2023) Schlüter, Agatha; Bullich, Gemma; Beltran, Sergi; Pérez Jurado, Luis Alberto; Pujol, Aurora, 1968-
Ítem Accés Obert De novo PORCN and ZIC2 mutations in a highly consanguineous family(MDPI, 2021) Castilla-Vallmanya, Laura; Gürsoy, Semra; Bozkaya, Özlem Giray; Prats-Planas, Aina; Bullich, Gemma; Matalonga, Leslie; Centeno-Pla, Mónica; Rabionet Janssen, Raquel; Grinberg, Daniel; Balcells, Susana; Urreizti, Roser
Ítem Accés Obert Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing(Wiley, 2014) Trujillano Lidón, Daniel, 1987-; Bullich, Gemma; Ossowski, Stephan; Ballarín, José; Torra, Roser; Estivill, Xavier, 1955-; Ars, Elisabet
Ítem Accés Obert Improved diagnosis of rare disease patients through systematic detection of runs of homozygosity(Elsevier, 2020) Matalonga, Leslie; Laurie, Steven, 1973-; Papakonstantinou, Anastasios; Piscia, Davide; Mereu, Elisabetta; Bullich, Gemma; Thompson, Rachel; Horvath, Rita; Pérez Jurado, Luis Alberto; Riess, Olaf; Gut, Ivo Glynne; van Ommen, Gert-Jan; Lochmüller, Hanns; Beltran, Sergi; RD–Connect Genome-Phenome Analysis Platform and URD-Cat Data Contributors
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