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490 results for your search :
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MBD6: A promising candidate gene for neurodevelopmental disorders
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Genotype-phenotype characterization of EPRS1-related disorder
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Clinical characterisation of individuals with pathogenic variants in WDR13 gene
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LYST-related Chediak-Higashi-Syndrome
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Expanding the clinical and molecular spectrum of DPF2-associated Coffin-Siris syndrome type 7
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DNA methylation profile of Mowat-Wilson syndrome: a study on individuals with atypical presentation or uncertain genotypic correlation
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WDR45-related neurodegeneration with brain iron accumulation
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Deep phenotyping and natural history of AFG2A (SPATA5) and AFG2B (SPATA5L1) disorders
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PTPN11-related SHORT syndrome
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EPG5-related disorders