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Del Gaudio, Daniela

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

Item Type	Name
Concept	Genetic Testing
Academic Article	Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.
Academic Article	Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach.
Academic Article	Clinical utility of gene panel-based testing for hereditary myelodysplastic syndrome/acute leukemia predisposition syndromes.
Academic Article	Pancreatic Histopathology of Human Monogenic Diabetes Due to Causal Variants in KCNJ11, HNF1A, GATA6, and LMNA.
Academic Article	Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants.
Academic Article	Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG).
Academic Article	CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Academic Article	Novel compound heterozygous LRBA deletions in a 6-month-old with neonatal diabetes.
Academic Article	Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders.
Academic Article	The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.

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Genetic Testing