Associated Papers
Unveiling New Clinical and Genetic Insights in Ultra-Rare Intellectual Disability Phenotypes: A Study of a Turkish Cohort.
Turkyilmaz A et al.
Clinical Genetics, 2025
Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders.
Valencia AM et al.
Nature Genetics, 2023
37500730 (PubMed )
Supplement: 41588_2023_1451_MOESM2_ESM.xlsx › SuppTable1Copied_230419
Prenatal diagnosis of Coffin-Siris syndrome: What are the fetal features?
Yu QX et al.
Prenatal Diagnosis, 2022
Evidence for an association between Coffin-Siris syndrome and congenital diaphragmatic hernia.
Gofin Y et al.
American Journal of Medical Genetics. Part A, 2022
Expanding the phenotypic spectrum associated with DPF2: A new case report.
Knapp KM et al.
American Journal of Medical Genetics. Part A, 2019
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