Last Updated: 09/26/2026
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Found 9 publications
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Journal: American journal of human genetics
Published: October 19, 2025
Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 23, 2025
Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 23, 2025
Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
Journal: European journal of human genetics : EJHG
Published: July 26, 2024
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.
Journal: Nature genetics
Published: June 16, 2024
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
Journal: European journal of human genetics : EJHG
Published: February 03, 2024
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Journal: American journal of human genetics
Published: November 23, 2022
Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 12, 2014
Molecular and Clinical Aspects of Angelman Syndrome.
Journal: Molecular syndromology
Published: June 07, 2012
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Last Updated: 09/26/2026