dc.contributor | Vall d'Hebron Barcelona Hospital Campus |
dc.contributor.author | Balasubramanian, Meena |
dc.contributor.author | Dingemans, Alexander J. M. |
dc.contributor.author | Albaba, Shadi |
dc.contributor.author | Richardson, Ruth |
dc.contributor.author | Yates, Thabo M. |
dc.contributor.author | Cox, Helen |
dc.contributor.author | Valenzuela Palafoll, Ma Irene |
dc.date.accessioned | 2022-02-22T07:25:45Z |
dc.date.available | 2022-02-22T07:25:45Z |
dc.date.issued | 2021-04 |
dc.identifier.citation | Balasubramanian M, Dingemans AJM, Albaba S, Richardson R, Yates TM, Cox H, et al. Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype. Eur J Hum Genet. 2021 Apr;29:625–636. |
dc.identifier.issn | 1476-5438 |
dc.identifier.uri | https://hdl.handle.net/11351/7051 |
dc.description | Trastorns de l'espectre autista; Prova genètica |
dc.description.sponsorship | Funding for the project was provided by the Wellcome Trust and by grants from the Netherlands Organization for Health Research and Development (ZonMw grant 91718310 and the Dutch Scientific Organization (NWO, grant NWA 1160.18.320). WKC is supported by grants from SFARI and the JPB Foundation |
dc.language.iso | eng |
dc.publisher | Springer Nature |
dc.relation.ispartofseries | European Journal of Human Genetics;29 |
dc.rights | Attribution 4.0 International |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ |
dc.source | Scientia |
dc.subject | Infants |
dc.subject | Trastorns del desenvolupament - Aspectes genètics |
dc.subject | Fenotip |
dc.subject.mesh | Developmental Disabilities |
dc.subject.mesh | /genetics |
dc.subject.mesh | Child |
dc.subject.mesh | Phenotype |
dc.title | Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype |
dc.type | info:eu-repo/semantics/article |
dc.identifier.doi | 10.1038/s41431-020-00769-7 |
dc.subject.decs | discapacidades del desarrollo |
dc.subject.decs | /genética |
dc.subject.decs | niño |
dc.subject.decs | fenotipo |
dc.relation.publishversion | https://doi.org/10.1038/s41431-020-00769-7 |
dc.type.version | info:eu-repo/semantics/publishedVersion |
dc.audience | Professionals |
dc.contributor.organismes | Institut Català de la Salut |
dc.contributor.authoraffiliation | [Balasubramanian M] Sheffield Clinical Genetics Service, Sheffield Children’s NHS Foundation Trust, Sheffield, UK. Academic Unit of Child Health, Department of Oncology & Metabolism, University of Sheffield, Sheffield, UK. [Dingemans AJM] Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands. [Albaba S] Sheffield Diagnostic Genetics Service, Sheffield Children’s NHS Foundation Trust, Sheffield, UK. [Richardson R] Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Trust, Newcastle, UK. [Yates TM] Sheffield Clinical Genetics Service, Sheffield Children’s NHS Foundation Trust, Sheffield, UK. [Cox H] West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women’s and Children’s Hospitals NHS Foundation Trust, Birmingham, UK. [Palafoll MIV] Servei de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Grup de Recerca en Medicina Genètica, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain |
dc.identifier.pmid | 33437032 |
dc.identifier.wos | 000607321000003 |
dc.rights.accessrights | info:eu-repo/semantics/openAccess |