Aihua H. Yin

Guangzhou, 511442, China

Last Updated: 09/26/2026

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Found 96 publications

Prospective clinical study on non-invasive prenatal testing for severe thalassemia using tag-labeled targeted capture sequencing combined with a modified Bayesian model

Prospective clinical study on non-invasive prenatal testing for severe thalassemia using tag-labeled targeted capture sequencing combined with a modified Bayesian model

Journal: Zhonghua fu chan ke za zhi

Published: April 27, 2026

Phenotypic and genotypic analysis of five fetuses with Harlequin ichthyosis due to variants of ABCA12 gene

Phenotypic and genotypic analysis of five fetuses with Harlequin ichthyosis due to variants of ABCA12 gene

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: February 06, 2026

Rapid functional RNA Analysis via amniocyte transdifferentiation resolves prenatal variant ambiguity in fetal akinesia syndrome.

Rapid functional RNA Analysis via amniocyte transdifferentiation resolves prenatal variant ambiguity in fetal akinesia syndrome.

Journal: Genetics in medicine open

Published: July 17, 2025

Clinical utility of exome sequencing in hearing loss: a retrospective cohort study.

Clinical utility of exome sequencing in hearing loss: a retrospective cohort study.

Journal: Frontiers in genetics

Published: June 09, 2025

OSGEP-associated Galloway-Mowat syndrome: a longitudinal genotype-phenotype correlation from prenatal imaging markers to lifespan neurologic-renal trajectories.

OSGEP-associated Galloway-Mowat syndrome: a longitudinal genotype-phenotype correlation from prenatal imaging markers to lifespan neurologic-renal trajectories.

Journal: QJM : monthly journal of the Association of Physicians

Published: May 06, 2025

A one-base therapeutic insertion in the HBG2 distal promoter reactivates γ-globin expression.

A one-base therapeutic insertion in the HBG2 distal promoter reactivates γ-globin expression.

Journal: Experimental hematology & oncology

Published: February 11, 2025

The interdependence of mid-trimester blood pressure and glucose levels in shaping fetal growth and neonatal outcomes: implications for risk-benefit assessment and co-management.

The interdependence of mid-trimester blood pressure and glucose levels in shaping fetal growth and neonatal outcomes: implications for risk-benefit assessment and co-management.

Journal: BMC medicine

Published: October 09, 2024

Insufficient gene expression and lost gene regulatory network may underlie the mechanism of Hirschsprung Disease in 5p-syndrome.

Insufficient gene expression and lost gene regulatory network may underlie the mechanism of Hirschsprung Disease in 5p-syndrome.

Journal: Heliyon

Published: August 24, 2024

Exome sequencing for nonimmune hydrops fetalis and clinical utility of data reanalysis.

Exome sequencing for nonimmune hydrops fetalis and clinical utility of data reanalysis.

Journal: QJM : monthly journal of the Association of Physicians

Published: August 06, 2024

Carrier screening for 223 monogenic diseases in Chinese population: a multi-center study in 33 104 individuals

Carrier screening for 223 monogenic diseases in Chinese population: a multi-center study in 33 104 individuals

Journal: Nan fang yi ke da xue xue bao = Journal of Southern Medical University

Published: July 08, 2024

Self-learning neural network as a prediction model in non-invasive prenatal testing to detect fetal SNVs.

Self-learning neural network as a prediction model in non-invasive prenatal testing to detect fetal SNVs.

Journal: Journal of translational medicine

Published: June 18, 2024

Two fetuses of hereditary tubulinopathies with TUBB deficiency.

Two fetuses of hereditary tubulinopathies with TUBB deficiency.

Journal: QJM : monthly journal of the Association of Physicians

Published: June 06, 2024

Showing 1-12 of 96

Last Updated: 09/26/2026