Huanzheng Li

Key Laboratory Of Birth Defects
Wenzhou, China

Last Updated: 09/26/2026

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Found 41 publications

Differential Transcriptome Analysis of Intrauterine UPD6pat Fetuses With Distinct Phenotypes.

Differential Transcriptome Analysis of Intrauterine UPD6pat Fetuses With Distinct Phenotypes.

Journal: Molecular genetics & genomic medicine

Published: November 20, 2025

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

Characteristics and mechanisms of mosaicism in prenatal diagnosis cases by application of SNP array.

Characteristics and mechanisms of mosaicism in prenatal diagnosis cases by application of SNP array.

Journal: Molecular cytogenetics

Published: February 27, 2023

Enhanced inflammation and suppressed adaptive immunity in COVID-19 with prolonged RNA shedding.

Enhanced inflammation and suppressed adaptive immunity in COVID-19 with prolonged RNA shedding.

Journal: Cell discovery

Published: December 27, 2021

The distal arthrogryposis-linked p.R63C variant promotes the stability and nuclear accumulation of TNNT3.

The distal arthrogryposis-linked p.R63C variant promotes the stability and nuclear accumulation of TNNT3.

Journal: Journal of clinical laboratory analysis

Published: June 01, 2021

Analysis of genetic variation for a child affected with congenital insensitivity to pain with anhidrosis and albinism by whole genome sequencing

Analysis of genetic variation for a child affected with congenital insensitivity to pain with anhidrosis and albinism by whole genome sequencing

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

Published: May 11, 2021

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

Two naturally occurring mutations of human GPR103 define distinct G protein selection bias.

Two naturally occurring mutations of human GPR103 define distinct G protein selection bias.

Journal: Biochimica et biophysica acta. Molecular cell research

Published: October 25, 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

Mutation analysis and prenatal diagnosis of a family with congenital contractural arachnodactyly.

Mutation analysis and prenatal diagnosis of a family with congenital contractural arachnodactyly.

Journal: Molecular genetics & genomic medicine

Published: July 11, 2020

Analysis of TWNK variant in a family affected with Perrault syndrome

Analysis of TWNK variant in a family affected with Perrault syndrome

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

Published: July 04, 2020

Showing 1-12 of 41

Last Updated: 09/26/2026