Shanhuo Yan
Qingzhou, China
Last Updated: 09/26/2026
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Found 10 publications
NGS-based spinal muscular atrophy carrier screening of 10,585 diverse couples in China: a pan-ethnic study.
Journal: European journal of human genetics : EJHG
Published: June 07, 2019
A Cell-free DNA Barcode-Enabled Single-Molecule Test for Noninvasive Prenatal Diagnosis of Monogenic Disorders: Application to β-Thalassemia.
Journal: Advanced science (Weinheim, Baden-Wurttemberg, Germany)
Published: December 27, 2018
Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples.
Journal: European journal of human genetics : EJHG
Published: February 15, 2018
Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies.
Journal: EBioMedicine
Published: June 29, 2017
Diagnosis of a Family with the Novel -α(21.9) Thalassemia Deletion.
Journal: Hemoglobin
Published: October 20, 2015
Rapid detection of Down's syndrome using quantitative real-time PCR (qPCR) targeting segmental duplications on chromosomes 21 and 11.
Journal: Gene
Published: July 28, 2014
Rapid diagnosis of aneuploidy using segmental duplication quantitative fluorescent PCR.
Journal: PloS one
Published: September 01, 2013
The diagnosis and molecular analysis of a novel 21.9kb deletion (Qinzhou type deletion) causing α+ thalassemia.
Journal: Blood cells, molecules & diseases
Published: June 28, 2013
Showing 1-10 of 10
Last Updated: 09/26/2026