Associated Papers
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing
A De Novo Mutation in DYRK1A Causes Syndromic Intellectual Disability: A Chinese Case Report.
Qiao F et al.
Frontiers in Genetics, 2019
31803247 (PubMed )
Supplement: DataSheet_2.pdf
Functional characterization of DYRK1A missense variants associated with a syndromic form of intellectual deficiency and autism.
Widowati EW et al.
Biology Open, 2018
Select a paper to view details