Zhongmin Xia

4221-120 Xiang An Nan Road
Xiamen, 361005, China

Last Updated: 09/26/2026

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Found 14 publications

Fragile X Syndrome Carrier Screening Using a Nanopore Sequencing Assay.

Fragile X Syndrome Carrier Screening Using a Nanopore Sequencing Assay.

Journal: The Journal of molecular diagnostics : JMD

Published: November 04, 2024

Comparison of the accuracy of multiplex digital PCR versus multiplex ligation-dependent probe amplification in quantification of the survival of motor neuron genes copy numbers.

Comparison of the accuracy of multiplex digital PCR versus multiplex ligation-dependent probe amplification in quantification of the survival of motor neuron genes copy numbers.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: November 06, 2023

Development of a low-cost and accurate carrier screening method for spinal muscular atrophy in developing countries.

Development of a low-cost and accurate carrier screening method for spinal muscular atrophy in developing countries.

Journal: European journal of medical genetics

Published: May 31, 2023

Phenome-wide association study in 25,639 pregnant Chinese women reveals loci associated with maternal comorbidities and child health.

Phenome-wide association study in 25,639 pregnant Chinese women reveals loci associated with maternal comorbidities and child health.

Journal: Cell genomics

Published: March 09, 2023

Evaluation of strategies for identification of infants with pathogenic glucose-6-phosphate dehydrogenase variants in China.

Evaluation of strategies for identification of infants with pathogenic glucose-6-phosphate dehydrogenase variants in China.

Journal: Frontiers in genetics

Published: December 28, 2021

Newborn Screening for G6PD Deficiency in Xiamen, China: Prevalence, Variant Spectrum, and Genotype-Phenotype Correlations.

Newborn Screening for G6PD Deficiency in Xiamen, China: Prevalence, Variant Spectrum, and Genotype-Phenotype Correlations.

Journal: Frontiers in genetics

Published: June 01, 2021

A de novo frameshift variant of ANKRD11 (c.1366_1367dup) in a Chinese patient with KBG syndrome.

A de novo frameshift variant of ANKRD11 (c.1366_1367dup) in a Chinese patient with KBG syndrome.

Journal: BMC medical genomics

Published: October 15, 2020

Clinical Utility of a High-Resolution Melting Test for Screening Numerical Chromosomal Abnormalities in Recurrent Pregnancy Loss.

Clinical Utility of a High-Resolution Melting Test for Screening Numerical Chromosomal Abnormalities in Recurrent Pregnancy Loss.

Journal: The Journal of molecular diagnostics : JMD

Published: September 02, 2019

Screening and mutation analysis of hyperphenylalaninemia in newborns from Xiamen, China.

Screening and mutation analysis of hyperphenylalaninemia in newborns from Xiamen, China.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: July 03, 2019

Carrier screening for spinal muscular atrophy with a simple test based on melting analysis.

Carrier screening for spinal muscular atrophy with a simple test based on melting analysis.

Journal: Journal of human genetics

Published: November 22, 2018

Clinical phenotype, in silico and biomedical analyses, and intervention for an East Asian population-specific c.370G>A (p.G124S) COQ4 mutation in a Chinese family with CoQ10 deficiency-associated Leigh syndrome.

Clinical phenotype, in silico and biomedical analyses, and intervention for an East Asian population-specific c.370G>A (p.G124S) COQ4 mutation in a Chinese family with CoQ10 deficiency-associated Leigh syndrome.

Journal: Journal of human genetics

Published: October 05, 2018

Evaluation of a Magnetic Cellulose-Based DNA Extraction System to Improve the Performance of HybriBio Human Papillomavirus Genotyping and Screening Tests for Cervical Swab Samples.

Evaluation of a Magnetic Cellulose-Based DNA Extraction System to Improve the Performance of HybriBio Human Papillomavirus Genotyping and Screening Tests for Cervical Swab Samples.

Journal: Clinical laboratory

Published: October 17, 2017

Showing 1-12 of 14

Last Updated: 09/26/2026