Yuguo Wang

Nanjing, China

Last Updated: 09/26/2026

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Found 14 publications

A Novel EBP c.452A>G Mutation Identified in a Girl with Conradi-Hünermann-Happle Syndrome Presenting with Hydronephrosis.

A Novel EBP c.452A>G Mutation Identified in a Girl with Conradi-Hünermann-Happle Syndrome Presenting with Hydronephrosis.

Journal: The application of clinical genetics

Published: January 16, 2025

Next-generation sequencing for genetic testing of hearing loss populations.

Next-generation sequencing for genetic testing of hearing loss populations.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: July 14, 2023

Evaluating the performance of four assays for carrier screening of spinal muscular atrophy.

Evaluating the performance of four assays for carrier screening of spinal muscular atrophy.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: April 17, 2023

Mutation spectrum of thalassemia among pre-pregnant adults in the Jiangsu Province by capillary electrophoresis-based multiplex PCR assay.

Mutation spectrum of thalassemia among pre-pregnant adults in the Jiangsu Province by capillary electrophoresis-based multiplex PCR assay.

Journal: Molecular genetics & genomic medicine

Published: March 16, 2023

Identification of two novel DNAJC12 gene variants in a patient with mild hyperphenylalaninemia.

Identification of two novel DNAJC12 gene variants in a patient with mild hyperphenylalaninemia.

Journal: Gene

Published: February 16, 2023

Whole genome sequencing vs chromosomal microarray analysis in prenatal diagnosis.

Whole genome sequencing vs chromosomal microarray analysis in prenatal diagnosis.

Journal: American journal of obstetrics and gynecology

Published: November 03, 2022

Genetic analysis of a novel SUMF1 variation associated with a late infantile form of multiple sulfatase deficiency.

Genetic analysis of a novel SUMF1 variation associated with a late infantile form of multiple sulfatase deficiency.

Journal: Journal of clinical laboratory analysis

Published: August 01, 2022

Current attitudes toward carrier screening for spinal muscular atrophy among pregnant women in Eastern China.

Current attitudes toward carrier screening for spinal muscular atrophy among pregnant women in Eastern China.

Journal: Journal of genetic counseling

Published: June 02, 2022

Identification of Chromosomal Abnormalities in Early Pregnancy Loss Using a High-Throughput Ligation-Dependent Probe Amplification-Based Assay.

Identification of Chromosomal Abnormalities in Early Pregnancy Loss Using a High-Throughput Ligation-Dependent Probe Amplification-Based Assay.

Journal: The Journal of molecular diagnostics : JMD

Published: June 08, 2020

Carrier Screening and Prenatal Diagnosis for Spinal Muscular Atrophy in 13,069 Chinese Pregnant Women.

Carrier Screening and Prenatal Diagnosis for Spinal Muscular Atrophy in 13,069 Chinese Pregnant Women.

Journal: The Journal of molecular diagnostics : JMD

Published: December 20, 2019

Genetic analysis of 62 Chinese families with Duchenne muscular dystrophy and strategies of prenatal diagnosis in a single center.

Genetic analysis of 62 Chinese families with Duchenne muscular dystrophy and strategies of prenatal diagnosis in a single center.

Journal: BMC medical genetics

Published: March 15, 2019

A novel splice site mutation in the UBE2A gene leads to aberrant mRNA splicing in a Chinese patient with X-linked intellectual disability type Nascimento.

A novel splice site mutation in the UBE2A gene leads to aberrant mRNA splicing in a Chinese patient with X-linked intellectual disability type Nascimento.

Journal: Molecular genetics & genomic medicine

Published: December 19, 2018

Showing 1-12 of 14

Last Updated: 09/26/2026