dc.contributor | Vall d'Hebron Barcelona Hospital Campus |
dc.contributor.author | Gillentine, Madelyn A. |
dc.contributor.author | Wang, Tianyun |
dc.contributor.author | Hoekzema, Kendra |
dc.contributor.author | Rosenfeld, Jill |
dc.contributor.author | Liu, Pengfei |
dc.contributor.author | Guo, Hui |
dc.contributor.author | Thevenon, Julien |
dc.date.accessioned | 2021-12-17T11:56:24Z |
dc.date.available | 2021-12-17T11:56:24Z |
dc.date.issued | 2021-04-19 |
dc.identifier.citation | Gillentine MA, Wang T, Hoekzema K, Rosenfeld J, Liu P, Guo H, et al. Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders. Genome Med. 2021 Apr 19;13:63. |
dc.identifier.issn | 1756-994X |
dc.identifier.uri | https://hdl.handle.net/11351/6710 |
dc.description | Familias de genes; Trastornos del desarrollo neurológico; HnRNPs |
dc.language.iso | eng |
dc.publisher | BMC |
dc.relation.ispartofseries | Genome Medicine;13 |
dc.rights | Attribution 4.0 International |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ |
dc.source | Scientia |
dc.subject | Malalties mentals - Aspectes genètics |
dc.subject | Neurogenètica |
dc.subject.mesh | Neurodevelopmental Disorders |
dc.subject.mesh | /genetics |
dc.subject.mesh | Genomics |
dc.subject.mesh | /methods |
dc.title | Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders |
dc.type | info:eu-repo/semantics/article |
dc.identifier.doi | 10.1186/s13073-021-00870-6 |
dc.subject.decs | trastornos del desarrollo neurológico |
dc.subject.decs | /genética |
dc.subject.decs | genómica |
dc.subject.decs | /métodos |
dc.relation.publishversion | https://doi.org/10.1186/s13073-021-00870-6 |
dc.type.version | info:eu-repo/semantics/publishedVersion |
dc.audience | Professionals |
dc.contributor.organismes | Institut Català de la Salut |
dc.contributor.authoraffiliation | [Gillentine MA, Wang T, Hoekzema K] Department of Genome Sciences, University of Washington School of Medicine, Seattle, USA. [Rosenfeld J] Baylor Genetics Laboratories, Houston, TX, USA. Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA. [Liu P] Baylor Genetics Laboratories, Houston, TX, USA. [Guo H] Department of Genome Sciences, University of Washington School of Medicine, Seattle, USA. Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China. [Thevenon J] Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain |
dc.identifier.pmid | 33874999 |
dc.identifier.wos | 000641712700001 |
dc.rights.accessrights | info:eu-repo/semantics/openAccess |