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Page 1
Heterozygous Recurrent Mutations Inducing Dysfunction of ROR2 Gene in Patients With Short Stature.
Gui B, Yu C, Li X, Zhao S, Zhao H, Yan Z, Cheng X, Lin J, Zheng H, Shao J, Zhao Z, Zhao L, Niu Y, Zhao Z, Wang H, Xie B, Wei X, Gui C, Li C, Chen S, Wang Y, Song Y, Gong C, Zhang TJ, Fan X, Wu Z, Chen Y, Wu N. Gui B, et al. Among authors: gui c. Front Cell Dev Biol. 2021 Apr 14;9:661747. doi: 10.3389/fcell.2021.661747. eCollection 2021. Front Cell Dev Biol. 2021. PMID: 33937263 Free PMC article.
Whole Exome Sequencing Uncovered the Genetic Architecture of Growth Hormone Deficiency Patients.
Yu C, Xie B, Zhao Z, Zhao S, Liu L, Cheng X, Li X, Cao B, Shao J, Chen J, Zhao H, Yan Z, Su C, Niu Y, Song Y, Wei L, Wang Y, Ren X, Fan L, Zhang B, Li C, Gui B, Zhang Y, Wang L, Chen S, Zhang J, Wu Z, Gong C, Fan X, Wu N. Yu C, et al. Among authors: gui b. Front Endocrinol (Lausanne). 2021 Sep 13;12:711991. doi: 10.3389/fendo.2021.711991. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 34589056 Free PMC article.
Case report: A novel heterozygous synonymous variant in deep exon region of NIPBL gene generating a non-canonical splice donor in a patient with cornelia de lange syndrome.
Shi M, Liang Y, Xie B, Wei X, Zheng H, Gui C, Huang R, Fan X, Li C, Wei X, Ma Y, Chen S, Chen Y, Gui B. Shi M, et al. Among authors: gui c, gui b. Front Genet. 2022 Nov 23;13:1056127. doi: 10.3389/fgene.2022.1056127. eCollection 2022. Front Genet. 2022. PMID: 36506332 Free PMC article.
[Analysis of a child with DIGFAN syndrome due to variant of MORC2 gene].
Xie B, Fan X, Wei X, Gui B, Wei X, Ma Y, Feng S, Chen Y. Xie B, et al. Among authors: gui b. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 Feb 10;41(2):234-238. doi: 10.3760/cma.j.cn511374-20221205-00841. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024. PMID: 38311566 Chinese.
Clinical validation and application of targeted long-range polymerase chain reaction and long-read sequencing-based analysis for hemophilia: experience from a hemophilia treatment center in China.
Shi M, Ma Y, Peng X, Zhou X, Cheng Z, Xie B, Wei X, Gui C, Mao A, Lin W, Luo J, Lai Y, Gui B. Shi M, et al. Among authors: gui c, gui b. J Thromb Haemost. 2024 Dec;22(12):3431-3447. doi: 10.1016/j.jtha.2024.08.013. Epub 2024 Sep 12. J Thromb Haemost. 2024. PMID: 39260745 Free article.
510 results