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Loss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway disease.
Lee M, Vecchio-Pagán B, Sharma N, Waheed A, Li X, Raraigh KS, Robbins S, Han ST, Franca AL, Pellicore MJ, Evans TA, Arcara KM, Nguyen H, Luan S, Belchis D, Hertecant J, Zabner J, Sly WS, Cutting GR. Lee M, et al. Among authors: robbins s. Hum Mol Genet. 2016 May 15;25(10):1923-1933. doi: 10.1093/hmg/ddw065. Epub 2016 Feb 23. Hum Mol Genet. 2016. PMID: 26911677 Free PMC article.
Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy.
Ben-Salem S, Robbins SM, Lm Sobreira N, Lyon A, Al-Shamsi AM, Islam BK, Akawi NA, John A, Thachillath P, Al Hamed S, Valle D, Ali BR, Al-Gazali L. Ben-Salem S, et al. Among authors: robbins sm. J Med Genet. 2018 Feb;55(2):122-130. doi: 10.1136/jmedgenet-2017-104827. Epub 2017 Nov 9. J Med Genet. 2018. PMID: 29122926 Free PMC article.
Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.
Telegrafi A, Webb BD, Robbins SM, Speck-Martins CE, FitzPatrick D, Fleming L, Redett R, Dufke A, Houge G, van Harssel JJT, Verloes A, Robles A, Manoli I, Engle EC; Moebius Syndrome Research Consortium; Jabs EW, Valle D, Carey J, Hoover-Fong JE, Sobreira NLM. Telegrafi A, et al. Am J Med Genet A. 2017 Oct;173(10):2763-2771. doi: 10.1002/ajmg.a.38375. Epub 2017 Aug 4. Am J Med Genet A. 2017. PMID: 28777491 Free PMC article.
Multicentre, randomised, double-blind, placebo-controlled, proof of concept study of LSALT peptide as prevention of acute respiratory distress syndrome and acute kidney injury in patients infected with SARS-CoV-2 (COVID-19).
Somayaji R, Luke DR, Lau A, Guner R, Tabak ŎF, Hepokoski M, Gardetto N, Conrad SA, Kumar SD, Ghosh K, Robbins SM, Senger DL, Sun D, Lim RKS, Liu J, Eser F, Karaali R, Tremblay A, Muruve D. Somayaji R, et al. Among authors: robbins sm. BMJ Open. 2024 Mar 15;14(3):e076142. doi: 10.1136/bmjopen-2023-076142. BMJ Open. 2024. PMID: 38490660 Free PMC article. Clinical Trial.
806 results