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Page 1
Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases.
de Jesus AA, Hou Y, Brooks S, Malle L, Biancotto A, Huang Y, Calvo KR, Marrero B, Moir S, Oler AJ, Deng Z, Montealegre Sanchez GA, Ahmed A, Allenspach E, Arabshahi B, Behrens E, Benseler S, Bezrodnik L, Bout-Tabaku S, Brescia AC, Brown D, Burnham JM, Caldirola MS, Carrasco R, Chan AY, Cimaz R, Dancey P, Dare J, DeGuzman M, Dimitriades V, Ferguson I, Ferguson P, Finn L, Gattorno M, Grom AA, Hanson EP, Hashkes PJ, Hedrich CM, Herzog R, Horneff G, Jerath R, Kessler E, Kim H, Kingsbury DJ, Laxer RM, Lee PY, Lee-Kirsch MA, Lewandowski L, Li S, Lilleby V, Mammadova V, Moorthy LN, Nasrullayeva G, O'Neil KM, Onel K, Ozen S, Pan N, Pillet P, Piotto DG, Punaro MG, Reiff A, Reinhardt A, Rider LG, Rivas-Chacon R, Ronis T, Rösen-Wolff A, Roth J, Ruth NM, Rygg M, Schmeling H, Schulert G, Scott C, Seminario G, Shulman A, Sivaraman V, Son MB, Stepanovskiy Y, Stringer E, Taber S, Terreri MT, Tifft C, Torgerson T, Tosi L, Van Royen-Kerkhof A, Wampler Muskardin T, Canna SW, Goldbach-Mansky R. de Jesus AA, et al. Among authors: finn l. J Clin Invest. 2020 Apr 1;130(4):1669-1682. doi: 10.1172/JCI129301. J Clin Invest. 2020. PMID: 31874111 Free PMC article. Clinical Trial.
Global gene expression in a type 2 Gaucher disease brain.
Myerowitz R, Mizukami H, Richardson KL, Finn LS, Tifft CJ, Proia RL. Myerowitz R, et al. Among authors: finn ls. Mol Genet Metab. 2004 Dec;83(4):288-96. doi: 10.1016/j.ymgme.2004.06.020. Mol Genet Metab. 2004. PMID: 15589115
Germline SAMD9L truncation variants trigger global translational repression.
Allenspach EJ, Soveg F, Finn LS, So L, Gorman JA, Rosen ABI, Skoda-Smith S, Wheeler MM, Barrow KA, Rich LM, Debley JS, Bamshad MJ, Nickerson DA, Savan R, Torgerson TR, Rawlings DJ. Allenspach EJ, et al. Among authors: finn ls. J Exp Med. 2021 May 3;218(5):e20201195. doi: 10.1084/jem.20201195. J Exp Med. 2021. PMID: 33724365 Free PMC article.
COQ2 nephropathy: a treatable cause of nephrotic syndrome in children.
Starr MC, Chang IJ, Finn LS, Sun A, Larson AA, Goebel J, Hanevold C, Thies J, Van Hove JLK, Hingorani SR, Lam C. Starr MC, et al. Among authors: finn ls. Pediatr Nephrol. 2018 Jul;33(7):1257-1261. doi: 10.1007/s00467-018-3937-z. Epub 2018 Apr 10. Pediatr Nephrol. 2018. PMID: 29637272 Free PMC article.
Subcutaneous Nodule of the Midline Anterior Neck in an Infant.
Miller E, Finn LS, Boos MD. Miller E, et al. JAMA Otolaryngol Head Neck Surg. 2020 Feb 1;146(2):196-197. doi: 10.1001/jamaoto.2019.3551. JAMA Otolaryngol Head Neck Surg. 2020. PMID: 31774475 No abstract available.
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
Doherty D, Parisi MA, Finn LS, Gunay-Aygun M, Al-Mateen M, Bates D, Clericuzio C, Demir H, Dorschner M, van Essen AJ, Gahl WA, Gentile M, Gorden NT, Hikida A, Knutzen D, Ozyurek H, Phelps I, Rosenthal P, Verloes A, Weigand H, Chance PF, Dobyns WB, Glass IA. Doherty D, et al. Among authors: finn ls. J Med Genet. 2010 Jan;47(1):8-21. doi: 10.1136/jmg.2009.067249. Epub 2009 Jul 1. J Med Genet. 2010. PMID: 19574260 Free PMC article.
285 results