Zhipeng Zhao

发表

Evaluation of Xpert MTB/RIF Ultra Assay for Diagnosis of Childhood Tuberculosis: a Multicenter Accuracy Study

Chaomin Wan, Tongqiang Zhang, Yan Shi, 2020, Journal of Clinical Microbiology.

A novel 14q13.1–21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency

Chanjuan Hao, Bao-Ping Xu, Xuyun Hu, 2019, Molecular Cytogenetics.

Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report

Chanjuan Hao, Bao-Ping Xu, Xu Hu, 2019, BMC Medical Genetics.

Compound heterozygous LPIN2 pathogenic variants in a Majeed Syndrome patient with recurrent fever and severe neutropenia: case report

Jun Liu, Chanjuan Hao, Bao-Ping Xu, 2019 .

Exome sequencing as the first‐tier test for pediatric respiratory diseases: A single‐center study

Zhan Qi, Chanjuan Hao, Bao-Ping Xu, 2021, Human mutation.

Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders

J. Lupski, Zhihong Wu, A. Nordgren, 2022, NPJ genomic medicine.

Cost-effectiveness analysis of using the TBX6-associated congenital scoliosis risk score (TACScore) in genetic diagnosis of congenital scoliosis

Zhihong Wu, G. Qiu, Hengqiang Zhao, 2020, Orphanet Journal of Rare Diseases.

A novel 14q13.1–21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency

Chanjuan Hao, Bao-Ping Xu, Xuyun Hu, 2019, Molecular Cytogenetics.

An Atypical Incontinentia Pigmenti Female with Persistent Mucocutaneous Hyperinflammation and Immunodeficiency Caused by a Novel Germline IKBKG Missense Mutation

W. Mou, Jingang Gui, Zhipeng Zhao, 2023, Journal of Clinical Immunology.