Yunzhi Xu

Key Laboratory Of Birth Defects
Wenzhou, China

Last Updated: 09/26/2026

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Found 9 publications

Prenatal diagnosis and genetic analysis of four fetuses with Uniparental disomy

Prenatal diagnosis and genetic analysis of four fetuses with Uniparental disomy

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: December 26, 2025

Genetic analysis of two novel variants in a Chinese pedigree affected with intellectual disorder

Genetic analysis of two novel variants in a Chinese pedigree affected with intellectual disorder

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: December 09, 2024

Saliva Sample-Based Non-Invasive Carrier Screening for Spinal Muscular Atrophy, Hereditary Hearing Loss, and Thalassemia in 13,926 Women of Reproductive Age From South Zhejiang.

Saliva Sample-Based Non-Invasive Carrier Screening for Spinal Muscular Atrophy, Hereditary Hearing Loss, and Thalassemia in 13,926 Women of Reproductive Age From South Zhejiang.

Journal: Molecular genetics & genomic medicine

Published: February 17, 2024

PLPPR4 haploinsufficiency causes neurodevelopmental disorders by disrupting synaptic plasticity via mTOR signalling.

PLPPR4 haploinsufficiency causes neurodevelopmental disorders by disrupting synaptic plasticity via mTOR signalling.

Journal: Journal of cellular and molecular medicine

Published: April 06, 2023

Novel compound heterozygous synonymous and missense variants in the MYO7A gene identified by next-generation sequencing in a Chinese family with nonsyndromic hearing loss.

Novel compound heterozygous synonymous and missense variants in the MYO7A gene identified by next-generation sequencing in a Chinese family with nonsyndromic hearing loss.

Journal: Journal of clinical laboratory analysis

Published: July 12, 2022

Analysis of ARID1B gene variants in two Chinese pedigrees with Coffin-Siris syndrome

Analysis of ARID1B gene variants in two Chinese pedigrees with Coffin-Siris syndrome

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: March 22, 2022

Prenatal diagnosis of 7 cases with uniparental disomy by utilization of single nucleotide polymorphism array.

Prenatal diagnosis of 7 cases with uniparental disomy by utilization of single nucleotide polymorphism array.

Journal: Molecular cytogenetics

Published: December 19, 2020

The variations in human orphan G protein-coupled receptor QRFPR affect PI3K-AKT-mTOR signaling.

The variations in human orphan G protein-coupled receptor QRFPR affect PI3K-AKT-mTOR signaling.

Journal: Journal of clinical laboratory analysis

Published: November 16, 2020

Genetic analysis and prenatal diagnosis of 20 Chinese families with oculocutaneous albinism.

Genetic analysis and prenatal diagnosis of 20 Chinese families with oculocutaneous albinism.

Journal: Journal of clinical laboratory analysis

Published: July 12, 2020

Showing 1-9 of 9

Last Updated: 09/26/2026