Youqing Fu

Dongguan, China

Last Updated: 09/26/2026

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Found 15 publications

Genetic Analysis of Two Patients with Compound Thalassemia Presenting with Elevated HbF and Normal HbA2 Levels.

Genetic Analysis of Two Patients with Compound Thalassemia Presenting with Elevated HbF and Normal HbA2 Levels.

Journal: Hemoglobin

Published: July 27, 2026

Single-Molecule Real-Time Sequencing Reveals Hidden Diversity and Corrects Misdiagnosis in α-Thalassemia.

Single-Molecule Real-Time Sequencing Reveals Hidden Diversity and Corrects Misdiagnosis in α-Thalassemia.

Journal: International journal of laboratory hematology

Published: March 21, 2026

Two Novel SUPT5H Variants Causing β-Thalassemia Trait Phenotypes.

Two Novel SUPT5H Variants Causing β-Thalassemia Trait Phenotypes.

Journal: Hemoglobin

Published: January 28, 2026

Novel SLC16A2 Frameshift Mutation as a Cause of Allan-Herndon-Dudley Syndrome and its Implications for Carrier Screening.

Novel SLC16A2 Frameshift Mutation as a Cause of Allan-Herndon-Dudley Syndrome and its Implications for Carrier Screening.

Journal: Pharmacogenomics and personalized medicine

Published: August 22, 2024

Results of carrier screening for Spinal muscular atrophy among 35 145 reproductive-aged individuals from Dongguan region

Results of carrier screening for Spinal muscular atrophy among 35 145 reproductive-aged individuals from Dongguan region

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

Published: May 22, 2023

Novel KCNJ16 variants identified in a Chinese patient with hypokalemic metabolic acidosis.

Novel KCNJ16 variants identified in a Chinese patient with hypokalemic metabolic acidosis.

Journal: Molecular genetics & genomic medicine

Published: March 11, 2023

Molecular spectrum and prevalence of thalassemia investigated by third-generation sequencing in the Dongguan region of Guangdong Province, Southern China.

Molecular spectrum and prevalence of thalassemia investigated by third-generation sequencing in the Dongguan region of Guangdong Province, Southern China.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: January 30, 2023

Case report: A de novo RASopathy-causing SHOC2 variant in a Chinese girl with noonan syndrome-like with loose anagen hair.

Case report: A de novo RASopathy-causing SHOC2 variant in a Chinese girl with noonan syndrome-like with loose anagen hair.

Journal: Frontiers in genetics

Published: September 08, 2022

A stepwise haematological screening and whole-exome sequencing reveal multiple mutations from SUPT5H causing an elevation of Hb A2 from a cohort of 47336 individuals.

A stepwise haematological screening and whole-exome sequencing reveal multiple mutations from SUPT5H causing an elevation of Hb A2 from a cohort of 47336 individuals.

Journal: International journal of laboratory hematology

Published: May 21, 2022

Three Novel De Novo ZEB2 Variants Identified in Three Unrelated Chinese Patients With Mowat-Wilson Syndrome and A Systematic Review.

Three Novel De Novo ZEB2 Variants Identified in Three Unrelated Chinese Patients With Mowat-Wilson Syndrome and A Systematic Review.

Journal: Frontiers in genetics

Published: January 12, 2022

Analysis of tissue from pregnancy loss and aborted fetus with ultrasound anomaly using subtelomeric MLPA and chromosomal array analysis.

Analysis of tissue from pregnancy loss and aborted fetus with ultrasound anomaly using subtelomeric MLPA and chromosomal array analysis.

Journal: The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians

Published: August 20, 2020

Polymorphisms of α-Globin Genes Compromise Polymerase Chain Reaction-Based α-Thalassemia Genotyping in Three Chinese Families.

Polymorphisms of α-Globin Genes Compromise Polymerase Chain Reaction-Based α-Thalassemia Genotyping in Three Chinese Families.

Journal: Hemoglobin

Published: May 22, 2019

Showing 1-12 of 15

Last Updated: 09/26/2026