The University of Chicago Header Logo

Search Result Details

Back to Search Results
This page shows the details of why an item matched the keywords from your search.
Search Results
Del Gaudio, Daniela
One or more keywords matched the following items that are connected to Del Gaudio, Daniela
Item TypeName
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.
Academic Article Applications of genome sequencing as a single platform for clinical constitutional genetic testing.
Search Criteria
  • Genetic Testing Predictive