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Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders.
Alvarez-Mora, María Isabel; Rodríguez-Revenga, Laia; Jodar, Meritxell; Potrony, Miriam; Sanchez, Aurora; Badenas, Celia; Oriola, Josep; Villanueva-Cañas, José Luis; Muñoz, Esteban; Valldeoriola, Francesc; Cámara, Ana; Compta, Yaroslau; Carreño, Mar; Martí, María Jose; Sánchez-Valle, Raquel; Madrigal, Irene.
Affiliation
  • Alvarez-Mora MI; Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona, IDIBAPS (Institut de Investigacions Biomèdiques August Pi I Sunyer), 08036 Barcelona, Spain.
  • Rodríguez-Revenga L; CIBER of Rare Diseases (CIBERER), 08036 Barcelona, Spain.
  • Jodar M; Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona, IDIBAPS (Institut de Investigacions Biomèdiques August Pi I Sunyer), 08036 Barcelona, Spain.
  • Potrony M; CIBER of Rare Diseases (CIBERER), 08036 Barcelona, Spain.
  • Sanchez A; Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona, IDIBAPS (Institut de Investigacions Biomèdiques August Pi I Sunyer), 08036 Barcelona, Spain.
  • Badenas C; Molecular Biology of Reproduction and Development Research Group, Department of Biomedical Sciences, Faculty of Medicine, Universitat de Barcelona, 08036 Barcelona, Spain.
  • Oriola J; Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona, IDIBAPS (Institut de Investigacions Biomèdiques August Pi I Sunyer), 08036 Barcelona, Spain.
  • Villanueva-Cañas JL; CIBER of Rare Diseases (CIBERER), 08036 Barcelona, Spain.
  • Muñoz E; Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona, IDIBAPS (Institut de Investigacions Biomèdiques August Pi I Sunyer), 08036 Barcelona, Spain.
  • Valldeoriola F; CIBER of Rare Diseases (CIBERER), 08036 Barcelona, Spain.
  • Cámara A; Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona, IDIBAPS (Institut de Investigacions Biomèdiques August Pi I Sunyer), 08036 Barcelona, Spain.
  • Compta Y; CIBER of Rare Diseases (CIBERER), 08036 Barcelona, Spain.
  • Carreño M; Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona, IDIBAPS (Institut de Investigacions Biomèdiques August Pi I Sunyer), 08036 Barcelona, Spain.
  • Martí MJ; Molecular Biology CORE (CDB), Hospital Clínic de Barcelona, 08036 Barcelona, Spain.
  • Sánchez-Valle R; Parkinson's Disease & Movement Disorders Unit, Neurology Service, Hospital Clínic Universitari de Barcelona, IDIBAPS, CIBERNED (CB06/05/0018-ISCIII), ERN-RND, Institut Clínic de Neurociències UBNeuro (Maria de Maeztu Excellence Centre), Universitat de Barcelona, 08036 Barcelona, Spain.
  • Madrigal I; Parkinson's Disease & Movement Disorders Unit, Neurology Service, Hospital Clínic Universitari de Barcelona, IDIBAPS, CIBERNED (CB06/05/0018-ISCIII), ERN-RND, Institut Clínic de Neurociències UBNeuro (Maria de Maeztu Excellence Centre), Universitat de Barcelona, 08036 Barcelona, Spain.
Genes (Basel) ; 14(4)2023 03 28.
Article de En | MEDLINE | ID: mdl-37107571
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Épilepsie / Exome Type d'étude: Diagnostic_studies / Guideline / Observational_studies Limites: Humans Langue: En Journal: Genes (Basel) Année: 2023 Type de document: Article Pays d'affiliation: Espagne Pays de publication: Suisse
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Épilepsie / Exome Type d'étude: Diagnostic_studies / Guideline / Observational_studies Limites: Humans Langue: En Journal: Genes (Basel) Année: 2023 Type de document: Article Pays d'affiliation: Espagne Pays de publication: Suisse