Browsing Centre for Clinical Pharmacology by Author "Valenzuela, I"
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Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology.
Dhombres, F; Morgan, P; Chaudhari, BP; Filges, I; Sparks, TN; Lapunzina, P; Roscioli, T; Agarwal, U; Aggarwal, S; Beneteau, C (Wiley, 2022-07-24)Technological advances in both genome sequencing and prenatal imaging are increasing our ability to accurately recognize and diagnose Mendelian conditions prenatally. Phenotype-driven early genetic diagnosis of fetal genetic ...