Last Updated: 09/26/2026
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Found 5 publications
Sequence variants in HECTD1 result in a variable neurodevelopmental disorder.
Journal: American journal of human genetics
Published: June 20, 2024
Genetic variants in DDX53 contribute to Autism Spectrum Disorder associated with the Xp22.11 locus.
Journal: medRxiv : the preprint server for health sciences
Published: January 18, 2024
Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus.
Journal: American journal of human genetics
Published: December 07, 2023
Clinical challenges in interpreting multiple pathogenic mutations in single patients.
Journal: Hereditary cancer in clinical practice
Published: June 12, 2020
GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome.
Journal: American journal of human genetics
Published: September 21, 2018
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Last Updated: 09/26/2026