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Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature.
Fan X, Zhao S, Yu C, Wu D, Yan Z, Fan L, Song Y, Wang Y, Li C, Ming Y, Gui B, Niu Y, Li X, Yang X, Luo S, Zhang Q, Zhao X, Pan H, Li M, Xia W, Qiu G, Liu P, Zhang S, Zhang J, Wu Z; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study; Lupski JR, Posey JE, Chen S, Gong C, Wu N. Fan X, et al. Among authors: wang y. J Genet Genomics. 2021 May 20;48(5):396-402. doi: 10.1016/j.jgg.2021.02.008. Epub 2021 Mar 22. J Genet Genomics. 2021. PMID: 34006472
New insights into 5α-reductase type 2 deficiency based on a multi-centre study: regional distribution and genotype-phenotype profiling of SRD5A2 in 190 Chinese patients.
Gui B, Song Y, Su Z, Luo FH, Chen L, Wang X, Chen R, Yang Y, Wang J, Zhao X, Fan L, Liu X, Wang Y, Chen S, Gong C. Gui B, et al. Among authors: wang x, wang j, wang y. J Med Genet. 2019 Oct;56(10):685-692. doi: 10.1136/jmedgenet-2018-105915. Epub 2019 Jun 11. J Med Genet. 2019. PMID: 31186340
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: wang h, wang 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.
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: wang l, wang y. 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.
292,693 results
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