Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 5 publications
Discordant neoplasms in monozygotic twins with a germline RECQL5 variant.
Journal: Cancer genetics
Published: May 24, 2026
Genotypic and phenotypic spectrum of hereditary spastic paraplegia 56: insights from novel CYP2U1 variants and a literature review.
Journal: BMC neurology
Published: December 08, 2025
Pancreatitis Risk Genes Play a Major Role in Pediatric Pancreatitis: Insights From the INternational Study Group of Pediatric Pancreatitis: In search for a cuRE.
Journal: Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association
Published: December 05, 2025
Expanding Access to Genome Sequencing: Higher Diagnostic Yield in Self-Referred Participants From the CincyKidsSeq Study and Implications for Hybrid Models of Genetic Service Delivery.
Journal: Clinical genetics
Published: September 29, 2025
Understanding and interpretation of a variant of uncertain significance (VUS) genetic test result by pediatric providers who do not specialize in genetics.
Journal: Journal of genetic counseling
Published: September 30, 2019
Showing 1-5 of 5
Last Updated: 09/26/2026