Haibo Li

发表

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

Exploring the Mechanism of Action of Banxia Baizhu Tianma Decoction against Preeclampsia by a Network Pharmacology Approach

Shu-Chun Cheng, Haibo Li, Lulu Yan, 2021, Evidence-Based Complementary and Alternative Medicine.

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.

Application of whole exome sequencing in fetal cases with skeletal abnormalities

Juan Cao, Haibo Li, Lulu Yan, 2022, Heliyon.

CNV profiles of Chinese pediatric patients with developmental disorders

Yiping Shen, J. Gusella, Xiao Chen, 2021, Genetics in Medicine.

CNV profiles of Chinese pediatric patients with developmental disorders

Yiping Shen, J. Gusella, Jian Wang, 2021, Genetics in Medicine.

Molecular genotyping of G6PD mutations for neonates in Ningbo area

Dan-yan Zhuang, Qiaoli Yu, Haibo Li, 2021, Journal of clinical laboratory analysis.

Genetic and functional analysis of a Li Fraumeni syndrome family in China

Xinbin Liao, Jia-Da Li, Renbin Lu, 2016, Scientific Reports.

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.

Antley-Bixler syndrome arising from compound heterozygotes in the P450 oxidoreductase gene: a case report

Yiping Shen, Linqi Chen, Haiying Wu, 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.

Newborn Screening and Genetic Analysis Identify Six Novel Genetic Variants for Primary Carnitine Deficiency in Ningbo Area, China

Haiyan Qiu, Dan-yan Zhuang, Xiangchun Yang, 2021, Frontiers in Genetics.

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.

[Rapid prenatal diagnosis of chromosome aneuploidies in 60 uncultured amniotic fluid samples by fluorescence in situ hybridization].

D. Liang, H. Dai, Zhigao Long, 2008, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.

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.

Protective Role of Bone Marrow Mesenchymal Stem Cells (BMSCs) Expressing miR-124 in Endometritis

Shuqin Cheng, Haibo Li, Lulu Yan, 2022, Journal of Biomaterials and Tissue Engineering.

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.

[Study on newborn screening for Duchenne muscular dystrophy and diagnostic strategy].

Zongfu Cao, Dan-yan Zhuang, Haibo Li, 2021, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.