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Clinical delineation of SETBP1 haploinsufficiency disorder
The CHD4-related syndrome
A YWHAZ Variant Associated With Cardiofaciocutaneous Syndrome Activates the RAF-ERK Pathway
Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement
Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk