Publicacions
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Aranda S, Ribeiro J, Tristán-Noguero A, Moreno-Ruiz N, Arenas C, Calvo FFM, Ibañez-Mico S, Segura JLP, Ramos-Fernández JM, Del Carmen Moyano Chicano M, León RC, Soto-Insuga V, González-Alguacil E, Carlos Valera Dávila, Fernández-Jaén A, Plans L, Camacho A, Visa-Reñé N, Del Pilar Martin-Tamayo Blázquez M, Paredes-Carmona F, Marti-Carrera I, Ginot-Julià G, Hernández-Fabián A, Davi MT, Sanchez MC, Herraiz LC, Pita PF, Gonzalez TB, O'Callaghan-Gordo M, Iglesias Santa Polonia FF, Cazorla MR, Lucas MTF, González-Meneses A, Sala-Coromina J, Macaya A, Lasa-Aranzasti A, Anna M, Cueto-González, Párraga FV, Campistol-Plana J, Serrano M, Xenia Alonso, Palafoll MIV, Monteagudo E, Alonso-Colmenero I, Sans-Capdevila O, Casals F, Cormand B, Garcia-Cazorla A, Bayés À and Mitjans M.
Genotype-phenotype correlations and putative modifier genes in SYNGAP1 encephalopathy.
NEUROBIOLOGY OF DISEASE . : 107357-107357.
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Batlle-Masó L, Padrosa Pulido J, Esteve-Codina A, Perurena-Prieto J, Franco-Jarava C, Aguiló-Cucurull A, Martínez-Gallo M, Cea C, Rodriguez-Aliberas M, Soler-Palacín P, Casals F, Redondo Velao S, Torrent M, Alsina L and Colobran R.
Somatic reversion in CD137 deficiency correlating with Epstein-Barr virus control and clinical improvement
npj Genomic Medicine . 10(1): 78-78.
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Bonet N, Mascaro JM Jr, Hurtado-Navarro L, Angosto-Bazarra D, Callejas-Rubio JL, Clemente D, Souto A, Lima O, Palmou-Fontana N, Baselga E, Jiménez-Treviño S, Remesal A, Andreu-Barasoain M, Fernandez-Dominguez L, Riera-Monroig J, Aparicio M, Garcia-Herrero J, Pesqué D, Sanchez-Calvin MT, Lezana-Rosales JM, Correyero-Plaza M, Garcia-Villalba J, Bolaño V, Peiro S, Diaz M, Vlagea A, Lorca D, Fabregat V, Anton MC, Plaza S, Gonzalez-Granado LI, Postigo C, de Morales JMG, de la Fuente EG, Iglesias-Jimenez E, Gomez-Roman J, Vázquez-Triñanes C, Lopez-Robledillo JC, Ortego-Centeno N, Giménez-Arnau AM, Campistol-Plana J, Laayouni H, de Landazuri IO, Yagüe-Ribes J, Gonzalez-Roca E, Mensa-Vilaro A, Fornas O, Ramos E, Pelegrin P, Casals F and Arostegui-Gorospe JI.
Novel Insights into the Clinical Features, Genetic Spectrum and Clonal Evolution of Patients Carrying NLRP3 Mosaicism
JOURNAL OF CLINICAL IMMUNOLOGY . 45(1): 134-134. Nº de cites: 2
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Alcaide E, Mola-Caminal M, Escaramís G, Lazcano U, Fernández Pérez I, Reig-Palou J, Jimenez-Balado J, Giralt-Steinhauer E, Cuadrado-Godia E, Ois A, Rodríguez-Campello A, Vallverdú M, Medina-Dols A, Jiménez C, Tur S, Díaz RM, Bruque CD, Andreu-Somavilla N, González-Navarrete I, Casals F, Vives-Bauzà C, Fernández-Cadenas I, Jiménez-Conde J, Balcells S and Rabionet-Janssen R.
Rare Variant Association Analysis Uncovers Involvement of VNN2 in Stroke Outcome
STROKE . 56(9): 2571-2578.
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Medaglia S, Reig-Palou J, Bellés A, Moreno-Ruiz N, Rodríguez J, Armengol X, Arostegui-Gorospe JI, Armengol L, Guillén JJ, Laayouni H and Casals F.
The Excess of Carriers in Rare Disorders Suggests a Nonpathogenic Effect for Most Variants of Uncertain Significance.
CLINICAL GENETICS . 107(3): 323-327. Nº de cites: 1
