Qiuli Y. Chen

No.59, Xiangzhu Road
Nanning, China

Last Updated: 09/26/2026

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Found 22 publications

A novel dinucleotide variant at 5' splice sites in the F8 gene causes exon 19 skipping in a Chinese family with hemophilia A.

A novel dinucleotide variant at 5' splice sites in the F8 gene causes exon 19 skipping in a Chinese family with hemophilia A.

Journal: Frontiers in genetics

Published: August 15, 2025

Machine learning based screening of biomarkers associated with cell death and immunosuppression of multiple life stages sepsis populations.

Machine learning based screening of biomarkers associated with cell death and immunosuppression of multiple life stages sepsis populations.

Journal: Scientific reports

Published: February 12, 2025

Integrating machine learning and multi-omics analysis to unveil key programmed cell death patterns and immunotherapy targets in kidney renal clear cell carcinoma.

Integrating machine learning and multi-omics analysis to unveil key programmed cell death patterns and immunotherapy targets in kidney renal clear cell carcinoma.

Journal: Scientific reports

Published: January 02, 2025

TARS2 c.470 C > G is a chinese-specific founder mutation in three unrelated families with mitochondrial encephalomyopathy.

TARS2 c.470 C > G is a chinese-specific founder mutation in three unrelated families with mitochondrial encephalomyopathy.

Journal: Orphanet journal of rare diseases

Published: June 27, 2024

Clinical and genetic analysis of trichohepatoneurodevelopmental syndrome caused by a CCDC47 variant.

Clinical and genetic analysis of trichohepatoneurodevelopmental syndrome caused by a CCDC47 variant.

Journal: Heliyon

Published: September 26, 2023

Advances in the fumarate hydratase-deficient diseases

Advances in the fumarate hydratase-deficient diseases

Journal: Zhonghua bing li xue za zhi = Chinese journal of pathology

Published: March 27, 2023

Early onset horizontal gaze palsy and progressive scoliosis due to a noncanonical splicing-site variant and a missense variant in the ROBO3 gene.

Early onset horizontal gaze palsy and progressive scoliosis due to a noncanonical splicing-site variant and a missense variant in the ROBO3 gene.

Journal: Molecular genetics & genomic medicine

Published: February 25, 2023

Reference intervals for erythrocyte parameters and hemoglobin electrophoresis parameters for young children in Guangxi.

Reference intervals for erythrocyte parameters and hemoglobin electrophoresis parameters for young children in Guangxi.

Journal: International journal of laboratory hematology

Published: March 18, 2022

Prenatal diagnosis of cri-du-chat syndrome by SNP array: report of twelve cases and review of the literature.

Prenatal diagnosis of cri-du-chat syndrome by SNP array: report of twelve cases and review of the literature.

Journal: Molecular cytogenetics

Published: October 15, 2019

First Identification of the 3.5 kb Deletion (NC_000011.10: g.5224302-5227791del3490bp) on the β-Globin Gene Cluster in a Chinese Family.

First Identification of the 3.5 kb Deletion (NC_000011.10: g.5224302-5227791del3490bp) on the β-Globin Gene Cluster in a Chinese Family.

Journal: Hemoglobin

Published: January 08, 2019

Characterization of a Large Novel α-Globin Gene Cluster Deletion Causing α0-Thalassemia in a Chinese Family.

Characterization of a Large Novel α-Globin Gene Cluster Deletion Causing α0-Thalassemia in a Chinese Family.

Journal: Hemoglobin

Published: November 23, 2017

Identification of novel mutations in the HbF repressor gene BCL11A in patients with autism and intelligence disabilities.

Identification of novel mutations in the HbF repressor gene BCL11A in patients with autism and intelligence disabilities.

Journal: American journal of hematology

Published: September 04, 2017

Showing 1-12 of 22

Last Updated: 09/26/2026