dc.contributor | Vall d'Hebron Barcelona Hospital Campus |
dc.contributor.author | Garrity, Madison |
dc.contributor.author | Kavus, Haluk |
dc.contributor.author | Rojas-Vasquez, Marta |
dc.contributor.author | Valenzuela Palafoll, Ma Irene |
dc.contributor.author | Larson, Austin |
dc.contributor.author | Reed, Sara |
dc.date.accessioned | 2022-03-24T13:59:25Z |
dc.date.available | 2022-03-24T13:59:25Z |
dc.date.issued | 2021-08 |
dc.identifier.citation | Garrity M, Kavus H, Rojas-Vasquez M, Valenzuela I, Larson A, Reed S, et al. Neurodevelopmental Phenotypes in Individuals with Pathogenic Variants in CHAMP1. Cold Spring Harb Mol Case Stud. 2021 Aug;7(4):a006092. |
dc.identifier.issn | 2373-2873 |
dc.identifier.uri | https://hdl.handle.net/11351/7260 |
dc.description | Discapacitat intel·lectual; Retard greu del desenvolupament global; Microcefàlia severa |
dc.description.sponsorship | This work is supported by the Columbia University College of Dental Medicine Research Committee who awarded Madison Garrity Summer Fellowship Honors and grants from SFARI and the JPB Foundation. |
dc.language.iso | eng |
dc.publisher | Cold Spring Harbor Laboratory Press |
dc.relation.ispartofseries | Cold Spring Harbor Molecular Case Studies;7(4) |
dc.rights | Attribution-NonCommercial 4.0 International |
dc.rights.uri | http://creativecommons.org/licenses/by-nc/4.0/ |
dc.source | Scientia |
dc.subject | Trastorns del desenvolupament - Aspectes genètics |
dc.subject | Neurobiologia del desenvolupament - Malalties |
dc.subject | Fosfoproteïnes |
dc.subject.mesh | Neurodevelopmental Disorders |
dc.subject.mesh | /genetics |
dc.subject.mesh | Phosphoproteins |
dc.subject.mesh | /genetics |
dc.title | Neurodevelopmental phenotypes in individuals with pathogenic variants in CHAMP1 |
dc.type | info:eu-repo/semantics/article |
dc.identifier.doi | 10.1101/mcs.a006092 |
dc.subject.decs | trastornos del desarrollo neurológico |
dc.subject.decs | /genética |
dc.subject.decs | fosfoproteínas |
dc.subject.decs | /genética |
dc.relation.publishversion | https://doi.org/10.1101/mcs.a006092 |
dc.type.version | info:eu-repo/semantics/publishedVersion |
dc.audience | Professionals |
dc.contributor.organismes | Institut Català de la Salut |
dc.contributor.authoraffiliation | [Garrity M] Columbia University School of Dental Medicine, New York, New York 10032, USA. [Kavus H] Department of Pediatrics, Columbia University Medical Center, New York, New York 10032, USA. [Rojas-Vasquez M] Department of Pediatric Hematology-Oncology, Stollery Children's Hospital, Edmonton, Alberta T6G 2B7, Canada. [Valenzuela I] Servei de Genètica Clínica i Molecular, Vall d'Hebron Hospital Universitari, Barcelona, Spain. [Larson A] Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, Colorado 80045, USA. [Reed S] Clinical Genetics and Genomic Medicine, Geisinger Health System, Danville, Pennsylvania 17821, USA |
dc.identifier.pmid | 34021018 |
dc.identifier.wos | 000681087900005 |
dc.rights.accessrights | info:eu-repo/semantics/openAccess |