Yongchen Yang
Shanghai, China
Last Updated: 09/26/2026
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Found 10 publications
Identification and functional analysis of a novel TRAPPC2 intronic variant in a four-generation Chinese pedigree with SEDT.
Journal: Frontiers in genetics
Published: December 09, 2025
Identification of a VHL germline deletion in a family with Von Hippel-Lindau syndrome using MLPA-NGS.
Journal: BMC medical genomics
Published: May 25, 2025
Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.
Journal: JAMA network open
Published: March 25, 2025
Clinical analysis and genetic diagnosis of three children with Isoleucine metabolic disorders due to variants of HSD17B10 and ACAT1 genes
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: April 29, 2024
Clinical characteristics and identification of novel CNOT1 variants in three unrelated Chinese families with Vissers-Bodmer Syndrome.
Journal: Heliyon
Published: April 17, 2023
Application of a Multiplex Ligation-Dependent Probe Amplification-Based Next-Generation Sequencing Approach for the Detection of Pathogenesis of Duchenne Muscular Dystrophy and Spinal Muscular Atrophy Caused by Copy Number Aberrations.
Journal: Molecular neurobiology
Published: December 29, 2022
Origin of the X-chromosome influences the development and treatment outcomes of Turner syndrome.
Journal: PeerJ
Published: December 10, 2020
Mutation analysis of two pedigrees with suspected oculocutaneous albinism
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: March 06, 2019
A multiplex ligation‑dependent probe amplification‑based next‑generation sequencing approach for the detection of copy number variations in the human genome.
Journal: Molecular medicine reports
Published: January 15, 2018
Showing 1-10 of 10
Last Updated: 09/26/2026