Yuxin Zhang

发表

Sex Chromosome-Linked Diseases

Taosheng S Li, Haibo Li, Lulu Yan, 2020 .

A Novel Missense Variant in the Gene PPP2R5D Causes a Rare Neurodevelopmental Disorder with Increased Phenotype

Zongfu Cao, Xiangchun Yang, Haibo Li, 2021, BioMed research international.

22q11.2 recurrent copy number variation-related syndrome: a retrospective analysis of our own microarray cohort and a systematic clinical overview of ClinGen curation

Haibo Li, Yuxin Zhang, Yingwen Liu, 2021, Translational pediatrics.

Carnitine-acylcarnitine translocase deficiency caused by SLC25A20 gene heterozygous variants in twins: a case report

Ying Hu, Haibo Li, Yuxin Zhang, 2023, The Journal of international medical research.

Next-generation Sequencing Extends the Phenotypic Spectrum for LCA5 Mutations: Novel LCA5 Mutations in Cone Dystrophy

Chen Zhao, Xue Chen, Chao Jiang, 2016, Scientific Reports.

Prenatal diagnosis to identify compound heterozygous variants in PKDCC that causes rhizomelic limb shortening with dysmorphic features in a fetus from China

Dan-yan Zhuang, Haibo Li, Lulu Yan, 2023, BMC Medical Genomics.

Report of new variants in PPIL1 underlying type 14 pontocerebellar hypoplasia and their associated phenotypic manifestations in two fetuses

Haibo Li, Lulu Yan, Yuxin Zhang, 2023, American journal of medical genetics. Part A.

Combination of trio-based whole exome sequencing and optical genome mapping reveals a cryptic balanced translocation that causes unbalanced chromosomal rearrangements in a family with multiple anomalies

Haibo Li, Yuxin Zhang, Min Xie, 2023, Frontiers in Genetics.

A novel 268 kb deletion combined with a splicing variant in IL7R causes of severe combined immunodeficiency in a Chinese family: a case report

Haibo Li, Lulu Yan, Yuxin Zhang, 2023, BMC Medical Genomics.