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Clinical and molecular characterization of patients with YWHAG‐related epilepsy
UploadNatural history of adults with KBG syndrome: a physician-reported experience
UploadAdult Phenotype of SYNGAP1 -DEE
Download from doi.orgSpliceosome malfunction causes neurodevelopmental disorders with overlapping features
Download from doi.orgGrowth charts in DYRK1A syndrome
UploadA new neurodevelopmental disorder linked to heterozygous variants in UNC79
UploadEpilepsy is an important feature of KBG syndrome associated with poorer developmental outcome
UploadGPI‐anchoring disorders and the heart: Is cardiomyopathy an overlooked feature?
UploadPOU3F3‐related disorder: Defining the phenotype and expanding the molecular spectrum
UploadCNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online
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