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Molecular and phenotypical findings of a novel de novo SYNGAP1 gene variant in an 11-year-old Iranian boy with intellectual disability
7월 2, 2024
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Genomic analysis of multiplex consanguineous families reveals causes of neurodevelopmental disorders with epilepsy
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A deleterious frameshift insertion mutation in the ZNF142 gene leads to intellectual developmental disorder with impaired speech in three affected siblings: Clinical features and literature review
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