Xiang-dong D. Kong-Xiangdong

No.1 Jianshe East Road
Zhengzhou, 450052, China

Last Updated: 09/26/2026

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Found 173 publications

Whole exome sequencing: a new era in prenatal diagnostics.

Whole exome sequencing: a new era in prenatal diagnostics.

Journal: Journal of translational medicine
Published: September 01, 2025

Analysis of clinical manifestations and genetic variants among 11 Chinese pedigrees affected with Leber congenital amaurosis

Analysis of clinical manifestations and genetic variants among 11 Chinese pedigrees affected with Leber congenital amaurosis

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: August 05, 2025

Correction: The hidden causes of pregnancy loss: a closer look.

Correction: The hidden causes of pregnancy loss: a closer look.

Journal: Journal of translational medicine
Published: July 03, 2025

MLDP-AS: an optimized next-generation sequencing assay for enhanced detection of technically challenging variants in expanded carrier screening.

MLDP-AS: an optimized next-generation sequencing assay for enhanced detection of technically challenging variants in expanded carrier screening.

Journal: Journal of translational medicine
Published: June 16, 2025

The hidden causes of pregnancy loss: a closer look.

The hidden causes of pregnancy loss: a closer look.

Journal: Journal of translational medicine
Published: April 08, 2025

Clinical application of whole exome sequencing (WES) in the genetic diagnosis of 768 Chinese patients with bilateral hearing loss.

Clinical application of whole exome sequencing (WES) in the genetic diagnosis of 768 Chinese patients with bilateral hearing loss.

Journal: European journal of human genetics : EJHG
Published: February 06, 2025

Clinical application value of targeted amplicon sequencing technology in fetuses with uniparental disomy-related imprinting disorders: a multicenter study.

Clinical application value of targeted amplicon sequencing technology in fetuses with uniparental disomy-related imprinting disorders: a multicenter study.

Journal: Journal of translational medicine
Published: January 03, 2025

Analysis of the clinical outcomes of fetal 6p22.1-p21.32 duplications signaled by non-invasive prenatal screening

Analysis of the clinical outcomes of fetal 6p22.1-p21.32 duplications signaled by non-invasive prenatal screening

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: December 09, 2024

Methylation epigenetic analysis of a pedigree affected with Fragile X syndrome based on Nanopore long-read sequencing

Methylation epigenetic analysis of a pedigree affected with Fragile X syndrome based on Nanopore long-read sequencing

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: November 11, 2024

Application of triplet-primer PCR technology for the genetic testing and prenatal diagnosis of patients with Myotonic dystrophy type 1

Application of triplet-primer PCR technology for the genetic testing and prenatal diagnosis of patients with Myotonic dystrophy type 1

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: September 30, 2024

Expert consensus on the application of digital PCR non-invasive prenatal screening technology for the preliminary implementation of fetal chromosomal disease screening

Expert consensus on the application of digital PCR non-invasive prenatal screening technology for the preliminary implementation of fetal chromosomal disease screening

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: September 30, 2024

Unraveling the genetic mysteries of spinal muscular atrophy in Chinese families.

Unraveling the genetic mysteries of spinal muscular atrophy in Chinese families.

Journal: Orphanet journal of rare diseases
Published: July 20, 2024
Showing 1-12 of 173

Last Updated: 09/26/2026