Age-dependent risks of incidence and mortality of COVID-19 in Hubei Province and other parts of China H Li, S Wang, F Zhong, W Bao, Y Li, L Liu, H Wang, Y He Frontiers in medicine 7, 190, 2020 | 118 | 2020 |
Novel pathogenic ACAN variants in non-syndromic short stature patients X Hu, B Gui, J Su, H Li, N Li, T Yu, Q Zhang, Y Xu, G Li, Y Chen, Y Qing, ... Clinica Chimica Acta 469, 126-129, 2017 | 44 | 2017 |
Thyroglobulin gene mutations in Chinese patients with congenital hypothyroidism X Hu, R Chen, C Fu, X Fan, J Wang, J Qian, S Yi, C Li, J Luo, J Su, ... Molecular and Cellular Endocrinology 423, 60-66, 2016 | 28 | 2016 |
Two Chinese Xia‐Gibbs syndrome patients with partial growth hormone deficiency X Cheng, F Tang, X Hu, H Li, M Li, Y Fu, L Yan, Z Li, P Gou, N Su, C Gong, ... Molecular Genetics & Genomic Medicine 7 (4), e00596, 2019 | 15 | 2019 |
Prenatal and early diagnosis of Chinese 3-M syndrome patients with novel pathogenic variants X Hu, H Li, B Gui, Y Xu, J Wang, N Li, J Su, S Zhang, Y Song, Y Wang, ... Clinica Chimica Acta 474, 159-164, 2017 | 13 | 2017 |
Mosaic UPD (7q) mat in a patient with silver Russell syndrome J Su, J Wang, X Fan, C Fu, SJ Zhang, Y Zhang, Z Qin, H Li, J Luo, C Li, ... Molecular Cytogenetics 10, 1-7, 2017 | 11 | 2017 |
The first familial NSD2 cases with a novel variant in a Chinese father and daughter with atypical WHS facial features and a 7.5-year follow-up of growth hormone … X Hu, D Wu, Y Li, L Wei, X Li, M Qin, H Li, M Li, S Chen, C Gong, Y Shen BMC Medical Genomics 13, 1-8, 2020 | 9 | 2020 |
Novel pathogenic RECQL4 variants in Chinese patients with Rothmund-Thomson syndrome B Gui, Y Song, X Hu, H Li, Z Qin, J Su, C Li, X Fan, M Li, J Luo, Y Feng, ... Gene 654, 110-115, 2018 | 9 | 2018 |
Beyond samples: A metric revealing more connections of gut microbiota between individuals Z Yang, F Xu, H Li, Y He Computational and Structural Biotechnology Journal 19, 3930-3937, 2021 | 5 | 2021 |
The first two Chinese Myhre syndrome patients with the recurrent SMAD4 pathogenic variants: Functional consequences and clinical diversity H Li, B Cheng, X Hu, C Li, J Su, S Zhang, L Li, M Li, K Yang, S He, S Chen, ... Clinica Chimica Acta 500, 128-134, 2020 | 5 | 2020 |
A report on a girl of Noonan syndrome 9 presenting with bilateral lower limbs lymphedema Y Ding, XY Hu, YN Song, BY Cao, XJ Liang, HD Li, X Fan, SK Chen, ... Chinese Medical Journal 132 (4), 480-482, 2019 | 5 | 2019 |
Downregulated nuclear lncRNA NRON inhibits SHP2/Wnt/β-catenin signaling and cardiomyocyte differentiation during the development of Tetralogy of Fallot H Zhang, L Lu, C Li, H Li, J Tian, H Wang Genes & Diseases 10 (3), 750, 2023 | 1 | 2023 |
Master microRNA-222 regulates cardiac microRNA maturation and triggers Tetralogy of Fallot C Li, H Li, X Yao, D Liu, Y Wang, X Huang, Z Yang, W Tao, JY Zhao, ... Signal Transduction and Targeted Therapy 7 (1), 165, 2022 | 1 | 2022 |
Clinical-grade gene curation strategy in the development of short stature related gene panel by next generation sequencing X HU, B Gui, H LI, N LI, R Yao, T YU, X Fan, S Chen, X Wang, J Wang, ... Chinese Journal of Laboratory Medicine, 500-504, 2017 | | 2017 |