Yingting Quan
Changde, China
Last Updated: 09/26/2026
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Found 9 publications
Nance-Horan syndrome pedigree due to a novel microdeletion and skewed X chromosome inactivation.
Journal: Molecular genetics & genomic medicine
Published: April 25, 2022
Loss-of-function of KMT5B leads to neurodevelopmental disorder and impairs neuronal development and neurogenesis.
Journal: Journal of genetics and genomics = Yi chuan xue bao
Published: October 18, 2021
Mutation pattern and genotype-phenotype correlations of SETD2 in neurodevelopmental disorders.
Journal: European journal of medical genetics
Published: March 08, 2020
Excess of RALGAPB de novo variants in neurodevelopmental disorders.
Journal: European journal of medical genetics
Published: February 26, 2020
Genotype and Phenotype Correlations for TBL1XR1 in Neurodevelopmental Disorders.
Journal: Journal of molecular neuroscience : MN
Published: February 01, 2020
POGZ de novo missense variants in neuropsychiatric disorders.
Journal: Molecular genetics & genomic medicine
Published: April 02, 2019
Pathogenic missense mutation pattern of forkhead box genes in neurodevelopmental disorders.
Journal: Molecular genetics & genomic medicine
Published: February 22, 2019
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Journal: Nature communications
Published: July 30, 2018
Showing 1-9 of 9
Last Updated: 09/26/2026