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Anencephaly: Insights for genetic counseling
March 01, 2019
Article
The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease
December 01, 2019
Article
ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis
July 01, 2019
Article
Early-onset of symptoms and clinical course of Pompe disease associated with the c.-32-13 T > G variant
February 01, 2019