Guiyu Lou

Zhengzhou, China

Last Updated: 09/26/2026

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Found 29 publications

Identification and functional analysis of a novel variant of CHD23 gene in a Chinese pedigree affected with Non-syndromic autosomal recessive deafness 12

Identification and functional analysis of a novel variant of CHD23 gene in a Chinese pedigree affected with Non-syndromic autosomal recessive deafness 12

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: March 11, 2026

A study on the conversion between SMN1 and SMN2 genes

A study on the conversion between SMN1 and SMN2 genes

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: October 10, 2025

Pan-cancer analysis of DTX3L as a potential prognostic and immunological biomarker.

Pan-cancer analysis of DTX3L as a potential prognostic and immunological biomarker.

Journal: Scientific reports
Published: August 20, 2025

Identification of novel biallelic mutations in CFAP53 associated with fetal situs inversus totalis and literature review.

Identification of novel biallelic mutations in CFAP53 associated with fetal situs inversus totalis and literature review.

Journal: Journal of applied genetics
Published: December 18, 2024

Prenatal ultrasound phenotype of fetuses with recurrent 1q21.1 deletion and duplication syndrome.

Prenatal ultrasound phenotype of fetuses with recurrent 1q21.1 deletion and duplication syndrome.

Journal: Frontiers in pediatrics
Published: September 30, 2024

Characterization of the Prenatal Ultrasound Phenotype Associated With 7q11.23 Microduplication Syndrome and Williams-Beuren Syndrome.

Characterization of the Prenatal Ultrasound Phenotype Associated With 7q11.23 Microduplication Syndrome and Williams-Beuren Syndrome.

Journal: Prenatal diagnosis
Published: March 28, 2024

Application of whole exome sequencing for the inferential analysis of recessive genetic disease carrier status for couples with a child died of Primary immunodeficiency

Application of whole exome sequencing for the inferential analysis of recessive genetic disease carrier status for couples with a child died of Primary immunodeficiency

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: February 04, 2024

Competing Endogenous RNAs Crosstalk in Hippocampus: A Potential Mechanism for Neuronal Developing Defects in Down Syndrome.

Competing Endogenous RNAs Crosstalk in Hippocampus: A Potential Mechanism for Neuronal Developing Defects in Down Syndrome.

Journal: Journal of molecular neuroscience : MN
Published: November 15, 2023

Genetic analysis of a Chinese pedigree with Cohen syndrome due to compound heterozygous variants of VPS13B gene

Genetic analysis of a Chinese pedigree with Cohen syndrome due to compound heterozygous variants of VPS13B gene

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: August 02, 2023

Functional analysis of a novel nonsense variant c.91A>T of the TRAPPC2 gene in a Chinese family with X-linked recessive autosomal spondyloepiphyseal dysplasia tarda.

Functional analysis of a novel nonsense variant c.91A>T of the TRAPPC2 gene in a Chinese family with X-linked recessive autosomal spondyloepiphyseal dysplasia tarda.

Journal: Frontiers in genetics
Published: May 04, 2023

Analysis of a child with mental retardation due to a de novo variant of the KAT6A gene

Analysis of a child with mental retardation due to a de novo variant of the KAT6A gene

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: December 01, 2022

Expert consensus on the application of prenatal exome sequencing for fetal structural anomalies

Expert consensus on the application of prenatal exome sequencing for fetal structural anomalies

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: May 22, 2022
Showing 1-12 of 29

Last Updated: 09/26/2026