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Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome
Laboratoire de recherches Intégratives en Neurosciences et psychologie Cognitive UR-LINC
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Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome
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Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases
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FRMPD4 Mutations Cause X-linked Intellectual Disability and Disrupt Dendritic Spine Morphogenesis
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