11 results on '"Karam, Rachid"'
Search Results
2. Functional analysis and clinical classification of 462 germline BRCA2 missense variants affecting the DNA binding domain
3. Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup
4. P074: Characterization of complex hereditary cancer associated germline variants with long read sequencing
5. P545: A plot twist: When RNA evidence challenges our expectations of DNA results
6. P076: The ClinGen ENIGMA BRCA1/2 expert panel: A dynamic framework for evidence-based recommendations to improve classification criteria for variants in BRCA1/2*
7. Posttranscriptional Control of the Stem Cell and Neurogenic Programs by the Nonsense-Mediated RNA Decay Pathway
8. RNA Analysis Identifies Pathogenic Duplications in MSH2 in Patients With Lynch Syndrome
9. 899 YALE CRITERIA FOR GENETIC TESTING IN CASES OF SUSPECTED HEREDITARY DIFFUSE GASTRIC CANCER (HDGC) ARE MORE SENSITIVE THAN IGCLC AND ERN GENTURIS CRITERIA IN A LARGE AMERICAN COHORT
10. RNA Studies Demonstrate that the LDLR c.2389+4A>G Intronic Variant Causes Familial Hypercholesterolemia through an RNA Splicing Impact
11. Impact of RNA testing on cardiac variant interpretation and patient management
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.