Danielle Demarzo to Child, Preschool
This is a "connection" page, showing publications Danielle Demarzo has written about Child, Preschool.
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0.067
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Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities. Am J Hum Genet. 2020 05 07; 106(5):623-631.
Score: 0.034
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The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype. Hum Mutat. 2020 03; 41(3):591-599.
Score: 0.033