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HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.
Niggl E, Bouman A, Briere LC, Hoogenboezem RM, Wallaard I, Park J, Admard J, Wilke M, Harris-Mostert EDRO, Elgersma M, Bain J, Balasubramanian M, Banka S, Benke PJ, Bertrand M, Blesson AE, Clayton-Smith J, Ellingford JM, Gillentine MA, Goodloe DH, Haack TB, Jain M, Krantz I, Luu SM, McPheron M, Muss CL, Raible SE, Robin NH, Spiller M, Starling S, Sweetser DA, Thiffault I, Vetrini F, Witt D, Woods E, Zhou D; Genomics England Research Consortium; Undiagnosed Diseases Network; Elgersma Y, van Esbroeck ACM. Niggl E, et al. Among authors: luu sm. Am J Hum Genet. 2023 Aug 3;110(8):1414-1435. doi: 10.1016/j.ajhg.2023.07.005. Am J Hum Genet. 2023. PMID: 37541189 Free PMC article.
Getting Ahead: A Resident Led Quality Improvement Project to Increase Diabetic Nephropathy Screening in an Underserved Hispanic-Predominant Population.
Luu S, Rivera J, Aragon D, Zamora V, Huayanay I, Majzoub R, Baird A, Escobar C, Sanchez E, Lopez-Alvarenga JC, Hernandez D, Chang C. Luu S, et al. J Community Hosp Intern Med Perspect. 2022 Nov 7;12(6):1-11. doi: 10.55729/2000-9666.1130. eCollection 2022. J Community Hosp Intern Med Perspect. 2022. PMID: 36816170 Free PMC article.
Blind Loop Syndrome.
Conforti AR, Luu S. Conforti AR, et al. Among authors: luu s. 2022 Nov 5. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. 2022 Nov 5. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. PMID: 36508549 Free Books & Documents.
Asplenia and spleen hypofunction.
Lenti MV, Luu S, Carsetti R, Osier F, Ogwang R, Nnodu OE, Wiedermann U, Spencer J, Locatelli F, Corazza GR, Di Sabatino A. Lenti MV, et al. Among authors: luu s. Nat Rev Dis Primers. 2022 Nov 3;8(1):71. doi: 10.1038/s41572-022-00399-x. Nat Rev Dis Primers. 2022. PMID: 36329079 Review.
120 results