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Clinical, neuroimaging and molecular characteristics of PPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype-phenotype analysis.
Oyama, Nora; Vaneynde, Pieter; Reynhout, Sara; Pao, Emily M; Timms, Andrew; Fan, Xiao; Foss, Kimberly; Derua, Rita; Janssens, Veerle; Chung, Wendy; Mirzaa, Ghayda M.
  • Oyama N; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.
  • Vaneynde P; Laboratory of Protein Phosphorylation and Proteomics, Department of Cellular and Molecular Medicine, University of Leuven (KU Leuven), Leuven, Belgium.
  • Reynhout S; KU Leuven Brain Institute (LBI), Leuven, Belgium.
  • Pao EM; Laboratory of Protein Phosphorylation and Proteomics, Department of Cellular and Molecular Medicine, University of Leuven (KU Leuven), Leuven, Belgium.
  • Timms A; KU Leuven Brain Institute (LBI), Leuven, Belgium.
  • Fan X; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.
  • Foss K; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, Washington, USA.
  • Derua R; Department of Pediatrics, Columbia University, New York City, New York, USA.
  • Janssens V; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
  • Chung W; Laboratory of Protein Phosphorylation and Proteomics, Department of Cellular and Molecular Medicine, University of Leuven (KU Leuven), Leuven, Belgium.
  • Mirzaa GM; SyBioMa, University of Leuven (KU Leuven), Leuven, Belgium.
J Med Genet ; 60(5): 511-522, 2023 05.
Article en En | MEDLINE | ID: mdl-36216457
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Trastornos del Neurodesarrollo / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Año: 2023 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Trastornos del Neurodesarrollo / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Año: 2023 Tipo del documento: Article