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An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic heterogeneity of LBR-bone dysplasias.
Sobreira N, Modaff P, Steel G, You J, Nanda S, Hoover-Fong J, Valle D, Pauli RM. Sobreira N, et al. Among authors: you j. Am J Med Genet A. 2015 Jan;167A(1):159-63. doi: 10.1002/ajmg.a.36808. Epub 2014 Oct 27. Am J Med Genet A. 2015. PMID: 25348816 Free PMC article.
GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK.
Au PYB, You J, Caluseriu O, Schwartzentruber J, Majewski J, Bernier FP, Ferguson M; Care for Rare Canada Consortium; Valle D, Parboosingh JS, Sobreira N, Innes AM, Kline AD. Au PYB, et al. Among authors: you j. Hum Mutat. 2015 Oct;36(10):1009-1014. doi: 10.1002/humu.22837. Epub 2015 Aug 6. Hum Mutat. 2015. PMID: 26173930 Free PMC article.
IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease.
Cananzi M, Wohler E, Marzollo A, Colavito D, You J, Jing H, Bresolin S, Gaio P, Martin R, Mescoli C, Bade S, Posey JE, Dalle Carbonare M, Tung W, Jhangiani SN, Bosa L, Zhang Y, Filho JS, Gabelli M, Kellermayer R, Kader HA, Oliva-Hemker M, Perilongo G, Lupski JR, Biffi A, Valle D, Leon A, de Macena Sobreira NL, Su HC, Guerrerio AL. Cananzi M, et al. Among authors: you j. Hum Genet. 2021 Sep;140(9):1299-1312. doi: 10.1007/s00439-021-02300-4. Epub 2021 Jun 29. Hum Genet. 2021. PMID: 34185153 Free PMC article. Clinical Trial.
Reductive Adjuvant Nanosystem for Alleviated Atopic Dermatitis Syndromes.
Lu Y, Shan X, Huang J, Zhou H, Zhu Y, Wang S, Luo Z, Liu X, Guo X, Shi Y, Hu Y, Liu H, Zhang J, Huang P, Luo L, You J. Lu Y, et al. Among authors: you j. ACS Nano. 2025 Jan 23. doi: 10.1021/acsnano.4c08767. Online ahead of print. ACS Nano. 2025. PMID: 39846120
Huoxiang Zhengqi dropping pills alleviate exertional heat stroke-induced multiple organ injury through sustaining intestinal homeostasis via regulating MAPK/NF-κB pathway and gut microbiota in rats.
Li L, Ma J, Li Z, Chen J, Zhou J, Wang Y, Pei Y, Gong Y, You J, Cao Y, Wang M, Chen J, Chang W, Ma W, Zhu H, Xiang C, Xu S, Song Q. Li L, et al. Among authors: you j. Front Pharmacol. 2025 Jan 7;15:1534713. doi: 10.3389/fphar.2024.1534713. eCollection 2024. Front Pharmacol. 2025. PMID: 39840114 Free PMC article.
5,768 results