Associated Papers
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
39937650 (PubMed )
Supplement: awaf059_supplementary_data.zip › brain-2024-02450-File011.pdf
De novo retinoic acid receptor beta (RARB) variant associated with microphthalmia and dystonia.
Trieschmann G et al.
European Journal of Medical Genetics, 2023
Implementation of Public Funded Genome Sequencing in Evaluation of Fetal Structural Anomalies.
So PL et al.
Genes, 2022
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