Last Updated: 09/26/2026
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Found 5 publications
Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 05, 2024
The prevalence and phenotypic range associated with biallelic PKDCC variants.
Journal: Clinical genetics
Published: November 30, 2022
The different clinical facets of SYN1-related neurodevelopmental disorders.
Journal: Frontiers in cell and developmental biology
Published: August 15, 2022
POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome.
Journal: Human mutation
Published: March 26, 2015
Outcomes in children with Noonan syndrome and hypertrophic cardiomyopathy: a study from the Pediatric Cardiomyopathy Registry.
Journal: American heart journal
Published: February 07, 2012
Showing 1-5 of 5
Last Updated: 09/26/2026