Associated Papers
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination.
Efthymiou S et al.
Brain : a Journal of Neurology, 2019
Correction to: Expanding the genetic heterogeneity of intellectual disability.
Anazi S et al.
Human Genetics, 2018
Expanding the genetic heterogeneity of intellectual disability.
Anazi S et al.
Human Genetics, 2017
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