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Experimental and Bioinformatic Insights into the Effects of Epileptogenic Variants on the Function and Trafficking of the GABA Transporter GAT-1.
Published in:
International Journal of Molecular Sciences, 2023, v. 24, n. 2, p. 955, doi. 10.3390/ijms24020955
By:
- Piniella, Dolores;
- Canseco, Ania;
- Vidal, Silvia;
- Xiol, Clara;
- Díaz de Bustamante, Aránzazu;
- Martí-Carrera, Itxaso;
- Armstrong, Judith;
- Bastolla, Ugo;
- Zafra, Francisco
Publication type:
Article
Germline and Somatic Whole-Exome Sequencing Identifies New Candidate Genes Involved in Familial Predisposition to Serrated Polyposis Syndrome.
Published in:
Cancers, 2021, v. 13, n. 4, p. 929, doi. 10.3390/cancers13040929
By:
- Soares de Lima, Yasmin;
- Arnau-Collell, Coral;
- Díaz-Gay, Marcos;
- Bonjoch, Laia;
- Franch-Expósito, Sebastià;
- Muñoz, Jenifer;
- Moreira, Leticia;
- Ocaña, Teresa;
- Cuatrecasas, Miriam;
- Herrera-Pariente, Cristina;
- Carballal, Sabela;
- Moreno, Lorena;
- Díaz de Bustamante, Aránzazu;
- Castells, Antoni;
- Bujanda, Luis;
- Cubiella, Joaquín;
- Rodríguez-Alcalde, Daniel;
- Balaguer, Francesc;
- Castellví-Bel, Sergi;
- Roncucci, Luca
Publication type:
Article
Case report: A novel case of parental mosaicism in SMC1A gene causes inherited Cornelia de Lange syndrome.
Published in:
Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.993064
By:
- Gil-Salvador, Marta;
- Latorre-Pellicer, Ana;
- Lucia-Campos, Cristina;
- Arnedo, María;
- Darnaude, María Teresa;
- Díaz de Bustamante, Aránzazu;
- Villares, Rebeca;
- Palm Milla, Carmen;
- Puisac, Beatriz;
- Musio, Antonio;
- Ramos, Feliciano J.;
- Pié, Juan
Publication type:
Article
Functional analysis of new variants at the low‐density lipoprotein receptor associated with familial hypercholesterolemia.
Published in:
Human Mutation, 2019, v. 40, n. 8, p. 1181, doi. 10.1002/humu.23801
By:
- Rodríguez‐Jiménez, Carmen;
- Pernía, Olga;
- Mostaza, Jose;
- Rodríguez‐Antolín, Carlos;
- Dios García‐Díaz, Juan;
- Alonso‐Cerezo, Concepción;
- García‐Polo, Iluminada;
- Blanco, Agustín;
- Lahoz, Carlos;
- Arrieta, Francisco;
- Beltrán, Luis;
- Díaz de Bustamante, Aránzazu;
- Garzón‐Lorenzo, Lucía;
- Álvarez‐Sala, Luis Antonio;
- Asenjo, Ángel;
- Ibáñez de Cáceres, Inmaculada;
- Rodríguez‐Nóvoa, Sonia
Publication type:
Article

Found: 4

Experimental and Bioinformatic Insights into the Effects of Epileptogenic Variants on the Function and Trafficking of the GABA Transporter GAT-1.

Germline and Somatic Whole-Exome Sequencing Identifies New Candidate Genes Involved in Familial Predisposition to Serrated Polyposis Syndrome.

Case report: A novel case of parental mosaicism in SMC1A gene causes inherited Cornelia de Lange syndrome.

Functional analysis of new variants at the low‐density lipoprotein receptor associated with familial hypercholesterolemia.