CTNNA3 microdeletion: a description of clinical features-ITHACA Call for collaborative clinical research (36

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BCL11B related disorder : clinical phenotype, neuropsychological profile, brain MRI characteristics and epigenetic signature – ITHACA Call for collaborative clinical research (34)

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Phenotypic delineation of patients with bi-allelic CDK10 mutations (Al Kaissi syndrome) – ITHACA Call for collaborative Clinical Research (33)

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Search for patients with a deletion of the first 2 non-coding exons of the RAI1 gene : ITHACA Call for collaborative Clinical Research (32)

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