Last Updated: 09/26/2026
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Found 9 publications
Novel HGSNAT Variants Identified in the Oldest Siblings With MPS IIIC: Functional Characterization and Literature Review.
Journal: American journal of medical genetics. Part A
Published: January 16, 2026
Expanding the Audiological Phenotype Associated With Activity-Dependent Neuroprotective Protein (ADNP) Syndrome: A Case Report and Literature Review Suggesting a Genotype/Phenotype Correlation.
Journal: American journal of medical genetics. Part A
Published: September 04, 2025
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Journal: Nature communications
Published: May 03, 2019
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Journal: Nature communications
Published: February 17, 2019
A Cryptic Cause of Cardiac Arrest.
Journal: The Journal of emergency medicine
Published: July 12, 2018
De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.
Journal: Journal of medical genetics
Published: April 06, 2016
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
Journal: American journal of human genetics
Published: December 12, 2015
Showing 1-9 of 9
Last Updated: 09/26/2026