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Del Gaudio, Daniela

One or more keywords matched the following properties of Del Gaudio, Daniela

Property	Value
keywords	Molecular diagnostics, exome sequencing, array-CGH, CNV detection, monogenic diabetes

One or more keywords matched the following items that are connected to Del Gaudio, Daniela

Item Type	Name
Concept	Molecular Diagnostic Techniques
Concept	Pathology, Molecular
Academic Article	Analysis of ASPM in an ethnically diverse cohort of 400 patient samples: perspectives of the molecular diagnostic laboratory.
Academic Article	Improved molecular diagnosis of patients with neonatal diabetes using a combined next-generation sequencing and MS-MLPA approach.
Academic Article	Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.
Academic Article	Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals.

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