Huiling Xu
Shenzhen, China
Last Updated: 09/26/2026
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Found 9 publications
Case report: Successful PGT-M based on the identification of a spliceogenic variant in the RPGRIP1L gene through Minigene assay.
Journal: Frontiers in genetics
Published: June 28, 2024
First preimplantation genetic testing case of Meckel syndrome with a novel homozygous TXNDC15 variant in a non-consanguineous Chinese family.
Journal: Molecular genetics & genomic medicine
Published: September 27, 2023
Analysis of a Chinese pedigree affected with rare heart diseases due to variants of TNNI3 and TAZ genes
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: September 20, 2023
A healthy live birth after mosaic blastocyst transfer in preimplantation genetic testing for GATA1-related cytopenia combined with HLA matching.
Journal: BMC medical genomics
Published: June 30, 2023
Preimplantation genetic testing for Aicardi-Goutières syndrome induced by novel compound heterozygous mutations of TREX1: an unaffected live birth.
Journal: Molecular cytogenetics
Published: February 01, 2023
Rapid preimplantation genetic diagnosis of α-thalassemia SEA deletion with blastocyst cell whole genome amplification and short fragment Gap-PCR method
Journal: Nan fang yi ke da xue xue bao = Journal of Southern Medical University
Published: November 01, 2018
Genetic and phenotypic analysis of a rare case with homozygous Chinese Gγ (Aγδβ)0-thal deletion
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: August 12, 2018
Hb H Disease Caused by Multiple Mutations in the Polyadenylation Signal Site and - -SEA/αα.
Journal: Hemoglobin
Published: September 28, 2017
Genetic diagnosis of polycystic kidney disease, Alport syndrome, and thalassemia minor in a large Chinese family.
Journal: Clinical science (London, England : 1979)
Published: April 09, 2017
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Last Updated: 09/26/2026