Last Updated: 09/26/2026
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Found 8 publications
Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability.
Journal: American journal of human genetics
Published: July 22, 2024
Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 09, 2024
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.
Journal: American journal of human genetics
Published: April 02, 2020
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.
Journal: Journal of inherited metabolic disease
Published: March 31, 2020
Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD.
Journal: Journal of medical genetics
Published: September 12, 2019
Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.
Journal: American journal of human genetics
Published: May 17, 2019
Showing 1-8 of 8
Last Updated: 09/26/2026