Articles with "interpretation exome" as a keyword



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Family history is key to the interpretation of exome sequencing in the prenatal context: unexpected diagnosis of Basal Cell Nevus Syndrome

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Published in 2022 at "Prenatal Diagnosis"

DOI: 10.1002/pd.6171

Abstract: To reach a molecular diagnosis for a family with two consecutive fetuses presenting with multiple congenital anomalies. read more here.

Keywords: family; key interpretation; diagnosis; interpretation exome ... See more keywords