Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 5 publications
The impact of clinical genome sequencing in a global population with suspected rare genetic disease.
The impact of clinical genome sequencing in a global population with suspected rare genetic disease.
Journal: American journal of human genetics
Published: November 27, 2023
Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial.
Journal: JAMA pediatrics
Published: September 27, 2021
Kagami-Ogata Syndrome: Case Series and Review of Literature.
Journal: AJP reports
Published: December 28, 2020
Characterization of a Case of Pigmentary Retinopathy in Sanfilippo Syndrome Type IIIA Associated with Compound Heterozygous Mutations in the SGSH Gene.
Journal: Ophthalmic genetics
Published: September 03, 2015
Showing 1-5 of 5
Last Updated: 09/26/2026