Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 7 publications
The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants.
Journal: Clinical genetics
Published: May 03, 2024
DLG2 intragenic exonic deletions reinforce the link to neurodevelopmental disorders and suggest a potential association with congenital anomalies and dysmorphism.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 10, 2023
An Early Case of Complete Androgen Insensitivity Syndrome.
Journal: Journal of investigative medicine high impact case reports
Published: February 28, 2023
Placental Pathology in Maternal Ornithine Transcarbamylase Deficiency.
Journal: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
Published: December 27, 2021
Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.
Journal: Molecular genetics & genomic medicine
Published: July 28, 2021
Showing 1-7 of 7
Last Updated: 09/26/2026