Hai-Bo Li (Haibo Li)

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 10

Top Topics

Circulating Tumor Cells

Duchenne Muscular Dystrophy

Top Venues

Molecular genetics & genomic medicine

The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians

BioMed research international

American journal of medical genetics. Part A

This page only lists publications with an associated author ORCID identifier.

Publications

Lulu Yan, Shuxia Ding, Yan He, Bin Fu, Changshui Chen, Hai-Bo Li
Whole paternal uniparental disomy of chromosome 4 with a novel homozygous IDUA splicing variant, c.159-9T>A, in a Chinese patient with mucopolysaccharidosis type I. Molecular genetics & genomic medicine 12 (8) (2024)
Lulu Yan, Shuxia Ding, Yan He, Bin Fu, Changshui Chen, Hai-Bo Li
Whole paternal uniparental disomy of chromosome 4 with a novel homozygous IDUA splicing variant, c.159-9T>A, in a Chinese patient with mucopolysaccharidosis type I. Molecular genetics & genomic medicine 12 (8) (2024)
Dan-Yan Zhuang, Shu-Ni Sun, Zhuo-Jie Hu, Min Xie, Yu-Xin Zhang, Lu-Lu Yan, Jie-Wen Pan, Hai-Bo Li
Two novel pathogenic variants in the TCOF1 found in two Chinese cases of Treacher Collins syndrome. Molecular genetics & genomic medicine 12 (3) (2024)
Yun Pan, Xiaoli Pan, Danyan Zhuang, Ying Zhou, Jiangyang Xue, Shanshan Wu, Changshui Chen, Hai-Bo Li
A statistical investigation of parameters associated with low cell-free fetal DNA fraction in maternal plasma for noninvasive prenatal testing. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 37 (1) (2024)
Yun Pan, Xiaoli Pan, Danyan Zhuang, Ying Zhou, Jiangyang Xue, Shanshan Wu, Changshui Chen, Hai-Bo Li
A statistical investigation of parameters associated with low cell-free fetal DNA fraction in maternal plasma for noninvasive prenatal testing. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 37 (1) (2024)
Dan-Yan Zhuang, Shu-Ni Sun, Zhuo-Jie Hu, Min Xie, Yu-Xin Zhang, Lu-Lu Yan, Jie-Wen Pan, Hai-Bo Li
Two novel pathogenic variants in the TCOF1 found in two Chinese cases of Treacher Collins syndrome. Molecular genetics & genomic medicine 12 (3) (2024)
Yuxin Zhang, Lulu Yan, Min Xie, Jiangyang Xue, Xumian Yang, Yongming Xue, Liyun Tian, Hai-Bo Li
Report of new variants in PPIL1 underlying type 14 pontocerebellar hypoplasia and their associated phenotypic manifestations in two fetuses. American journal of medical genetics. Part A (2023)
Zhoushu Zheng, Lu Ding, Meihong Wang, Yinghui Zhang, Yihui Yang, Ming Tang, Jun Xu, Liangjiong Wang, Junhua Wu, Hai-Bo Li
Hearing characteristics and otoradiological abnormalities in three patients with novel pathogenic variants of KMT2D-related Kabuki syndrome. Molecular genetics & genomic medicine (2023)
Lulu Yan, Ru Shen, Zongfu Cao, Chunxiao Han, Yuxin Zhang, Yingwen Liu, Xiangchun Yang, Min Xie, Hai-Bo Li
A Novel Missense Variant in the Gene PPP2R5D Causes a Rare Neurodevelopmental Disorder with Increased Phenotype. BioMed research international 2021 (2021)
Jingjing Xiang, Lili Zhang, Wei Jiang, Qin Zhang, Ting Wang, Hai-Bo Li, Hong Li
Prenatal Diagnosis and Genetic Analysis of a Fetus with Joubert Syndrome. BioMed research international 2018 (2018)