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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. Among authors: zhao s, zhao l. 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.
Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome.
Chen N, Zhao S, Jolly A, Wang L, Pan H, Yuan J, Chen S, Koch A, Ma C, Tian W, Jia Z, Kang J, Zhao L, Qin C, Fan X, Rall K, Coban-Akdemir Z, Chen Z, Jhangiani S, Liang Z, Niu Y, Li X, Yan Z, Wu Y, Dong S, Song C, Qiu G, Zhang S, Liu P, Posey JE, Zhang F, Luo G, Wu Z; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study group; Su J, Zhang J, Chen EY, Rouskas K, Glentis S, Bacopoulou F, Deligeoroglou E, Chrousos G, Lyonnet S, Polak M, Rosenberg C, Dingeldein I, Bonilla X, Borel C, Gibbs RA, Dietrich JE, Dimas AS, Antonarakis SE, Brucker SY, Lupski JR, Wu N, Zhu L. Chen N, et al. Among authors: zhao s, zhao l. Am J Hum Genet. 2021 Feb 4;108(2):337-345. doi: 10.1016/j.ajhg.2020.12.014. Am J Hum Genet. 2021. PMID: 33434492 Free PMC article.
Variants Affecting the C-Terminal of CSF1R Cause Congenital Vertebral Malformation Through a Gain-of-Function Mechanism.
Liu B, Zhao S, Yan Z, Zhao L, Lin J, Wang S, Niu Y, Li X, Qiu G; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study; Zhang TJ, Wu Z, Wu N. Liu B, et al. Among authors: zhao s, zhao l. Front Cell Dev Biol. 2021 Mar 19;9:641133. doi: 10.3389/fcell.2021.641133. eCollection 2021. Front Cell Dev Biol. 2021. PMID: 33816491 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: zhao z, zhao h, zhao s, zhao l. 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.
Factors and predictive model associated with perioperative complications after long fusion in the treatment of adult non-degenerative scoliosis.
Wu N, Shao J, Zhang Z, Wang S, Li Z, Zhao S, Yang Y, Liu L, Yu C, Liu S, Zhao Z, Du Y, Zhang Y, Wang L, Zhao Y, Yu K, Zhao H, Shen J, Qiu G; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study; Wu Z, Zhang TJ. Wu N, et al. Among authors: zhao z, zhao h, zhao y, zhao s. BMC Musculoskelet Disord. 2021 May 25;22(1):483. doi: 10.1186/s12891-021-04361-y. BMC Musculoskelet Disord. 2021. PMID: 34034738 Free PMC article.
De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities.
Okur V, Chen Z, Vossaert L, Peacock S, Rosenfeld J, Zhao L, Du H, Calamaro E, Gerard A, Zhao S, Kelsay J, Lahr A, Mighton C, Porter HM, Siemon A, Silver J, Svihovec S, Fong CT, Grant CL, Lerner-Ellis J, Manickam K, Madan-Khetarpal S, McCandless SE, Morel CF, Schaefer GB, Berry-Kravis EM, Gates R, Gomez-Ospina N, Qiu G, Zhang TJ, Wu Z, Meng L, Liu P, Scott DA, Lupski JR, Eng CM, Wu N, Yuan B. Okur V, et al. Among authors: zhao s, zhao l. NPJ Genom Med. 2021 Dec 7;6(1):104. doi: 10.1038/s41525-021-00268-8. NPJ Genom Med. 2021. PMID: 34876591 Free PMC 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: zhao h, zhao s, zhao l. 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
Unraveling the genetic architecture of congenital vertebral malformation with reference to the developing spine.
Zhao S, Zhao H, Zhao L, Cheng X, Zheng Z, Wu M, Wen W, Wang S, Zhou Z, Xie H, Ruan D, Li Q, Liu X, Ou C, Li G, Zhao Z, Chen G, Niu Y, Yin X, Hu Y, Zhang X; Deciphering disorders Involving Scoliosis and COmorbidities (DISCO) study; Liu P, Qiu G, Liu W, Zhao C, Wu Z, Zhang J, Wu N. Zhao S, et al. Among authors: zhao z, zhao h, zhao c, zhao l. Nat Commun. 2024 Feb 6;15(1):1125. doi: 10.1038/s41467-024-45442-5. Nat Commun. 2024. PMID: 38321032 Free PMC article.
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