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2020 3
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Page 1
Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome.
Ma C, Chen N, Jolly A, Zhao S, Coban-Akdemir Z, Tian W, Kang J, Ye Y, Wang Y, Koch A, Zhang Y, Qin C, Bonilla X, Borel C, Rall K, Chen Z, Jhangiani S, Niu Y, Li X, Qiu G, Zhang S, Luo G, Wu Z, Bacopoulou F, Deligeoroglou E, Zhang TJ, Rosenberg C, Gibbs RA, Dietrich JE, Dimas AS, Liu P, Antonarakis SE, Brucker SY, Posey JE, Lupski JR, Wu N, Zhu L; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) Study Group. Ma C, et al. Among authors: chen z. Genet Med. 2022 Nov;24(11):2262-2273. doi: 10.1016/j.gim.2022.08.012. Epub 2022 Sep 16. Genet Med. 2022. PMID: 36112137 Free article.
A genotype-first analysis in a cohort of Mullerian anomaly.
Tian W, Chen N, Ye Y, Ma C, Qin C, Niu Y, Xiaoxin L, Zhao L, Zhao H, Liang Z, Song S, Wang Y, Chen Z, Lin J, Yan Z, Duan J, Zhao S, Zhang TJ, Qiu G, Wu Z, Wu N, Zhu L. Tian W, et al. Among authors: chen z. J Hum Genet. 2022 Jun;67(6):347-352. doi: 10.1038/s10038-021-00996-w. Epub 2022 Jan 13. J Hum Genet. 2022. PMID: 35022528
Deciphering the mutational signature of congenital limb malformations.
Sun L, Huang Y, Zhao S, Zhao J, Yan Z, Guo Y, Lin M, Zhong W, Yin Y, Chen Z, Zhang N, Zhang Y, Zhao Z, Li Q, Wang L, Dong X, Li Y, Li X, Qiu G; DISCO (Deciphering Disorders Involving Scoliosis & COmorbidities) study group; Zhang TJ, Wu Z, Tian W, Wu N. Sun L, et al. Among authors: chen z. Mol Ther Nucleic Acids. 2021 Apr 20;24:961-970. doi: 10.1016/j.omtn.2021.04.012. eCollection 2021 Jun 4. Mol Ther Nucleic Acids. 2021. PMID: 34094714 Free PMC article.
The utility of hierarchical genetic testing in paediatric liver disease.
Wang F, Li Y, Zhao S, Chen Z, Xu Z, Wang L, Zhang TJ, Yan J, Cao L, Wang P, Li A, Zhong Y, Wu Z, Qi X, Zhang M, Wu N. Wang F, et al. Among authors: chen z. Liver Int. 2022 May;42(5):1097-1108. doi: 10.1111/liv.15235. Epub 2022 Mar 21. Liver Int. 2022. PMID: 35257483
Phenotype expansion of variants affecting p38 MAPK signaling in hypospadias patients.
Lin D, Du H, Zhao S, Liu B, Song H, Wang G, Zhang W, Liang H, Liu P, Liu C, Han W, Li Z, Yang Y, Chen S, Zhao L, Li X, Wu Z; DISCO (Deciphering Disorders Involving Scoliosis & COmorbidities) study group; Sun N, Wu N. Lin D, et al. Orphanet J Rare Dis. 2022 May 23;17(1):209. doi: 10.1186/s13023-022-02334-5. Orphanet J Rare Dis. 2022. PMID: 35606856 Free PMC article.
24 results