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Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
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Loss of zebrafish atp6v1e1b, encoding a subunit of vacuolar ATPase, recapitulates human ARCL type 2C syndrome and identifies multiple pathobiological signatures
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Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care
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Zeb2 regulates cell fate at the exit from epiblast state in mouse embryonic stem cells
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Neuroimaging findings in Mowat-Wilson syndrome : a study of 54 patients
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Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability
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Identification of long non-coding RNAs involved in neuronal development and intellectual disability
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Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome
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Screening for intellectual disability in persons with a substance abuse problem: exploring the validity of the Hayes ability screening index in a Dutch-speaking sample
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Phenotypic and molecular insights into CASK-related disorders in males