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Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients
Download from www.nature.comComprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome
Download from www.nature.comPathogenic variants of DYNC2H1, KIAA0556, and PTPN11 associated with hypothalamic hamartoma
UploadA novel de novo frameshift variant in SETD1B causes epilepsy
Download from www.nature.comGenetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing
UploadSOFT syndrome in a patient from Chile
Download from api.wiley.comBiallelic COLGALT1 variants are associated with cerebral small vessel disease
UploadDe novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies
Download from www.nature.comGRIN2D variants in three cases of developmental and epileptic encephalopathy
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