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Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
Download from doi.orgMechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice
Download from doi.orgThe neurodevelopmental and facial phenotype in individuals with a TRIP12 variant
UploadA second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort
UploadRefining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D
Download from onlinelibrary.wiley.comPURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum.
UploadIntegrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder
UploadTenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features
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