Associated Papers
Novel variants in the SOX11 gene: clinical description of seven new patients.
Schincariol-Manhe B et al.
European Journal of Human Genetics : Ejhg, 2024
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.
Levy MA et al.
Hgg Advances, 2022
35047860 (PubMed )
Supplement: mmc2.xlsx › Table_S1_samples
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.
Sekiguchi F et al.
Journal of Human Genetics, 2019
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