dc.contributor | Vall d'Hebron Barcelona Hospital Campus |
dc.contributor.author | Martín Nalda, Andrea |
dc.contributor.author | Cueto Gonzalez, Anna Maria |
dc.contributor.author | Argudo-Ramírez, Ana |
dc.contributor.author | Colobran Oriol, Roger |
dc.contributor.author | Plaja Rustein, Alberto |
dc.contributor.author | Castells Sarret, Neus |
dc.contributor.author | Rivière, Jacques |
dc.contributor.author | Tizzano Ferrari, Eduardo Fidel |
dc.contributor.author | Soler Palacín, Pere |
dc.contributor.author | Marin Soria, José Luis |
dc.contributor.author | Martínez Gallo, Mónica |
dc.date.accessioned | 2020-09-07T10:45:50Z |
dc.date.available | 2020-09-07T10:45:50Z |
dc.date.issued | 2019-10-30 |
dc.identifier.citation | Martin‐Nalda A, Cueto‐González AM, Argudo‐Ramírez A, Marin‐Soria JL, Martinez‐Gallo M, Colobran R, et al. Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency: two years’ experience in Catalonia (Spain). Mol Genet Genomic Med. 2019 Oct 30;7(12):e1016. |
dc.identifier.issn | 2324-9269 |
dc.identifier.uri | https://hdl.handle.net/11351/5218 |
dc.description | Supressió 22q11.2; Cribratge de nounats; Immunodeficiència combinada greu |
dc.language.iso | eng |
dc.publisher | Wiley Online Library |
dc.relation.ispartofseries | Molecular Genetics & Genomic Medicine;7(12) |
dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 International |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ |
dc.source | Scientia |
dc.subject | Cribatge genètic |
dc.subject | Síndromes de deficiència immunitària en els infants - Catalunya |
dc.subject | Síndrome de DiGeorge - Catalunya |
dc.subject.mesh | Neonatal Screening |
dc.subject.mesh | DiGeorge Syndrome |
dc.subject.mesh | Severe Combined Immunodeficiency |
dc.subject.mesh | /methods |
dc.subject.mesh | Catalonia |
dc.title | Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency: two years’ experience in Catalonia (Spain) |
dc.type | info:eu-repo/semantics/article |
dc.identifier.doi | 10.1002/mgg3.1016 |
dc.subject.decs | cribado neonatal |
dc.subject.decs | síndrome de DiGeorge |
dc.subject.decs | inmunodeficiencia combinada grave |
dc.subject.decs | /métodos |
dc.subject.decs | Cataluña |
dc.relation.publishversion | https://onlinelibrary.wiley.com/doi/full/10.1002/mgg3.1016 |
dc.type.version | info:eu-repo/semantics/publishedVersion |
dc.audience | Professionals |
dc.contributor.authoraffiliation | [Martin-Nalda A, Riviere J, Soler-Palacin P] Unitat de Malalties Infeccioses Pediàtriques i Immunodeficiències, Servei de Pediatria, Vall d'Hebron Hospital Universitari, Barcelona, Spain. [Cueto-González AM, Plaja A, Castells N] Servei de Genètica Clínica i Molecular, Vall d'Hebron Hospital Universitari, Barcelona, Spain. [Argudo-Ramírez A, Marin-Soria JL] Newborn screening laboratory, Section of Congenital Errors of Metabolism, Biochemistry and Molecular Genetics Department, Hospital Clinic, Barcelona, Spain. [Martinez-Gallo M] Divisió d’Immunologia, Vall d'Hebron Hospital Universitari, Barcelona, Spain. [Colobran R] Servei de Genètica Clínica i Molecular, Vall d'Hebron Hospital Universitari, Barcelona, Spain. Divisió d’Immunologia, Vall d'Hebron Hospital Universitari, Barcelona, Spain. [Tizzano EF] Servei de Genètica Clínica i Molecular, Vall d'Hebron Hospital Universitari, Barcelona, Spain. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain |
dc.identifier.pmid | 31663686 |
dc.identifier.wos | 000522629400029 |
dc.rights.accessrights | info:eu-repo/semantics/openAccess |