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A Novel Recurrent Breakpoint Responsible for Rearrangements in the Williams-Beuren Region. [electronic resource] by
- Plaja, Alberto
- Castells, Neus
- Cueto-González, Anna M
- del Campo, Miguel
- Vendrell, Teresa
- Lloveras, Elisabet
- Izquierdo, Luis
- Borregan, Mar
- Rodríguez-Santiago, Benjamín
- Carrió, Anna
- Miró, Rosa
- Tizzano, Eduardo
Producer: 20160122
In:
Cytogenetic and genome research vol. 146
Availability: No items available.
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Whole exome sequencing for the identification of a new mutation in TGFB2 involved in a familial case of non-syndromic aortic disease. [electronic resource] by
- Gago-Díaz, Marina
- Blanco-Verea, Alejandro
- Teixidó-Turà, Gisela
- Valenzuela, Irene
- Del Campo, Miguel
- Borregan, Mar
- Sobrino, Beatriz
- Amigo, Jorge
- García-Dorado, David
- Evangelista, Artur
- Carracedo, Angel
- Brion, María
Producer: 20150512
In:
Clinica chimica acta; international journal of clinical chemistry vol. 437
Availability: No items available.
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From gestalt to gene: early predictive dysmorphic features of PMM2-CDG. [electronic resource] by
- Martinez-Monseny, Antonio
- Cuadras, Daniel
- Bolasell, Mercè
- Muchart, Jordi
- Arjona, César
- Borregan, Mar
- Algrabli, Adi
- Montero, Raquel
- Artuch, Rafael
- Velázquez-Fragua, Ramón
- Macaya, Alfons
- Pérez-Cerdá, Celia
- Pérez-Dueñas, Belén
- Pérez, Belén
- Serrano, Mercedes
Producer: 20200522
In:
Journal of medical genetics vol. 56
Availability: No items available.
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A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases. [electronic resource] by
- Bullich, Gemma
- Domingo-Gallego, Andrea
- Vargas, Iván
- Ruiz, Patricia
- Lorente-Grandoso, Laura
- Furlano, Mónica
- Fraga, Gloria
- Madrid, Álvaro
- Ariceta, Gema
- Borregán, Mar
- Piñero-Fernández, Juan Alberto
- Rodríguez-Peña, Lidia
- Ballesta-Martínez, Maria Juliana
- Llano-Rivas, Isabel
- Meñica, Mireia Aguirre
- Ballarín, José
- Torrents, David
- Torra, Roser
- Ars, Elisabet
Producer: 20190528
In:
Kidney international vol. 94
Availability: No items available.
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Role of copy number variants in sudden cardiac death and related diseases: genetic analysis and translation into clinical practice. [electronic resource] by
- Mates, Jesus
- Mademont-Soler, Irene
- Del Olmo, Bernat
- Ferrer-Costa, Carles
- Coll, Monica
- Pérez-Serra, Alexandra
- Picó, Ferran
- Allegue, Catarina
- Fernandez-Falgueras, Anna
- Álvarez, Patricia
- Yotti, Raquel
- Espinosa, Maria Angeles
- Sarquella-Brugada, Georgia
- Cesar, Sergi
- Carro, Ester
- Brugada, Josep
- Arbelo, Elena
- Garcia-Pavia, Pablo
- Borregan, Mar
- Tizzano, Eduardo
- López-Granados, Amador
- Mazuelos, Francisco
- Díaz de Bustamante, Aranzazu
- Darnaude, Maria Teresa
- González-Hevia, José Ignacio
- Díaz-Flores, Felícitas
- Trujillo, Francisco
- Iglesias, Anna
- Fernandez-Aviles, Francisco
- Campuzano, Oscar
- Brugada, Ramon
Producer: 20190221
In:
European journal of human genetics : EJHG vol. 26
Availability: No items available.
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