mayo.edu Background Inherited polyneuropathies often go undiagnosed. We investigated whole exome sequencing (WES) in utility to identify the genetic causes of diverse forms of inherited ...

Currently, next-generation sequencing can be used in clinical scenarios detecting CNVs, and the use of exome sequencing in the DD cohort ahead of the microarray test has not been evaluated. Methods ...

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In one of them, the episodes were characterised by hepatic pneumatosis with gas bubbles in the portal vein similar to necrotising enterocolitis of the newborn. Methods Exome sequencing identified a ...

Solomon Moshkevich, Natera's president of clinical diagnostics, said that the firm has seen strong growth in MRD testing in 2023 and 2024 that has been driven by both new physician users and existing ...

The phenomenon of a Full Moon arises when our planet, Earth, is precisely sandwiched between the Sun and the Moon. This alignment ensures the entire side of the Moon that faces us gleams under ...

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