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Delineation of dual molecular diagnosis in patients with skeletal deformity.
Liu L, Sun L, Chen Y, Wang M, Yu C, Huang Y, Zhao S, Du H, Chen S, Fan X, Tian W, Wu Z; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study group; Qiu G, Zhang TJ, Wu N. Liu L, et al. Among authors: chen s, chen y. Orphanet J Rare Dis. 2022 Mar 28;17(1):139. doi: 10.1186/s13023-022-02293-x. Orphanet J Rare Dis. 2022. PMID: 35346302 Free PMC article.
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: chen s, chen y. 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.
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: chen s, chen y. 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: chen y. 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.
165,450 results
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