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A High Proportion of Novel ACAN Mutations and Their Prevalence in a Large Cohort of Chinese Short Stature Children.
Lin L, Li M, Luo J, Li P, Zhou S, Yang Y, Chen K, Weng Y, Ge X, Mireguli M, Wei H, Yang H, Li G, Sun Y, Cui L, Zhang S, Chen J, Zeng G, Xu L, Luo X, Shen Y. Lin L, et al. Among authors: wei h. J Clin Endocrinol Metab. 2021 Jun 16;106(7):e2711-e2719. doi: 10.1210/clinem/dgab088. J Clin Endocrinol Metab. 2021. PMID: 33606014 Free PMC article.
Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study.
Sun Y, Peng J, Liang D, Ye X, Xu N, Chen L, Yan D, Zhang H, Xiao B, Qiu W, Shen Y, Pang N, Liu Y, Liang C, Qin Z, Luo J, Chen F, Wang J, Zhang Z, Wei H, Du J, Yan H, Duan R, Wang J, Zhang Y, Liao S, Sun K, Wu L, Yu Y. Sun Y, et al. Among authors: wei h. Hum Mutat. 2022 May;43(5):568-581. doi: 10.1002/humu.24347. Epub 2022 Mar 1. Hum Mutat. 2022. PMID: 35143101
An effective preselection criterion for MODY with an increasingly positive genetic testing rate by NGS: results from two cohorts of Chinese children.
Cao B, Liu M, Zhang Y, Chen J, Li X, Su C, Yang W, Liu M, Wu D, Li W, Liang X, Wang Q, Wei H, Gong C. Cao B, et al. Among authors: wei h. Am J Physiol Endocrinol Metab. 2022 Dec 1;323(6):E529-E534. doi: 10.1152/ajpendo.00171.2022. Epub 2022 Nov 16. Am J Physiol Endocrinol Metab. 2022. PMID: 36383636 Free article.
A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients.
Liang L, Shuai R, Yu Y, Qiu W, Shen L, Wu S, Wei H, Chen Y, Yang C, Xu P, Chen X, Zou H, Feng J, Niu T, Hu H, Ye J, Zhang H, Lu D, Gong Z, Zhan X, Ji W, Yu Y, Gu X, Han L. Liang L, et al. Among authors: wei h. Orphanet J Rare Dis. 2021 Jan 7;16(1):22. doi: 10.1186/s13023-020-01632-0. Orphanet J Rare Dis. 2021. PMID: 33413471 Free PMC article.
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