Yingwen W. Liu

Ningbo, 315000, China

Last Updated: 09/26/2026

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Found 10 publications

A novel homozygous splicing variant in FREM1 expands the phenotypic spectrum of BNAR syndrome: functional validation and successful PGT-M.

A novel homozygous splicing variant in FREM1 expands the phenotypic spectrum of BNAR syndrome: functional validation and successful PGT-M.

Journal: BMC medical genomics
Published: January 12, 2026

Clinical diagnosis and genetic analysis of a rare case of Duchenne muscular dystrophy and spinal muscular atrophy.

Clinical diagnosis and genetic analysis of a rare case of Duchenne muscular dystrophy and spinal muscular atrophy.

Journal: Molecular cytogenetics
Published: November 05, 2025

Genetic analysis for a pedigree with Structural heart defects and renal anomalies syndrome caused by variants of TMEM260 gene

Genetic analysis for a pedigree with Structural heart defects and renal anomalies syndrome caused by variants of TMEM260 gene

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: June 24, 2025

Decoding splicing complexity: integrated genomic analysis reveals two novel pathogenic variants in Chinese dystrophinopathy pedigrees.

Decoding splicing complexity: integrated genomic analysis reveals two novel pathogenic variants in Chinese dystrophinopathy pedigrees.

Journal: Genes & genomics
Published: March 14, 2025

Genetic Polymorphisms and QF-PCR Performance Evaluation of 20 Autosomal STR Loci on Chromosomes 13, 18, and 21 in Prenatal Diagnosis Among East Chinese Han Population.

Genetic Polymorphisms and QF-PCR Performance Evaluation of 20 Autosomal STR Loci on Chromosomes 13, 18, and 21 in Prenatal Diagnosis Among East Chinese Han Population.

Journal: The application of clinical genetics
Published: March 12, 2025

Clinical and genetic characteristics of children with Pitt-Hopkins syndrome caused by TCF4 gene variants

Clinical and genetic characteristics of children with Pitt-Hopkins syndrome caused by TCF4 gene variants

Journal: Zhonghua yi xue za zhi
Published: November 13, 2024

Analysis of clinical features and genetic variant in a child with Cowden syndrome 1

Analysis of clinical features and genetic variant in a child with Cowden syndrome 1

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

Clinical and genetic analysis of two children with Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language due to de novo variants of MEF2C gene

Clinical and genetic analysis of two children with Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language due to de novo variants of MEF2C gene

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: September 20, 2023

Variation analysis of EPG5 gene in a Vici syndrome family

Variation analysis of EPG5 gene in a Vici syndrome family

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: January 25, 2022

Genetic analysis of a rare fetus with mandibulofacial dysostosis Guion-Almeida type

Genetic analysis of a rare fetus with mandibulofacial dysostosis Guion-Almeida type

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: August 08, 2021
Showing 1-10 of 10

Last Updated: 09/26/2026