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
FOXG1-Related Syndrome: From Clinical to Molecular Genetics and Pathogenic Mechanisms.
Wong LC et al.
International Journal of Molecular Sciences, 2019
31454984 (PubMed )
Supplement: ijms-20-04176-s001.pdf
The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.
Vidal S et al.
Scientific Reports, 2017
28947817 (PubMed )
Supplement: 41598_2017_11620_MOESM1_ESM.pdf
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