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- [22] Evaluating the Role of MAST1 as an Intellectual Disability Disease Gene: Identification of a Novel De Novo Variant in a Patient with Developmental Disabilities Journal of Molecular Neuroscience, 2020, 70 : 320 - 327
- [24] A Novel Mutation in the MAP7D3 Gene in Two Siblings with Severe Intellectual Disability and Autistic Traits: Concurrent Assessment of BDNF Functional Polymorphism, X-Inactivation and Oxidative Stress to Explain Disease Severity Journal of Molecular Neuroscience, 2023, 73 : 853 - 864