Associated Papers
A Novel Genetic Variant in MBD5 Associated with Severe Epilepsy and Intellectual Disability: Potential Implications on Neural Primary Cilia.
Martins M et al.
International Journal of Molecular Sciences, 2023
37628781 (PubMed )
Supplement: ijms-24-12603-s001.zip › ijms-2533004-supplementary.pdf
Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.
Liu Z et al.
Frontiers in Genetics, 2018
30279698 (PubMed )
Supplement: Table_2.XLS › Sheet1
Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND).
Mullegama SV et al.
European Journal of Human Genetics : Ejhg, 2016
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
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