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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1995 1
1998 1
2000 1
2001 1
2002 1
2003 1
2011 1
2012 1
2013 2
2014 1
2015 1
2016 1
2023 1
2024 0

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PubMed for id: 2022781848

10 results

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Page 1
Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.
Frost FG, Morimoto M, Sharma P, Ruaud L, Belnap N, Calame DG, Uchiyama Y, Matsumoto N, Oud MM, Ferreira EA, Narayanan V, Rangasamy S, Huentelman M, Emrick LT, Sato-Shirai I, Kumada S, Wolf NI, Steinbach PJ, Huang Y; Undiagnosed Diseases Network; Pusey BN, Passemard S, Levy J, Drunat S, Vincent M, Guet A, Agolini E, Novelli A, Digilio MC, Rosenfeld JA, Murphy JL, Lupski JR, Vezina G, Macnamara EF, Adams DR, Acosta MT, Tifft CJ, Gahl WA, Malicdan MCV. Frost FG, et al. Am J Hum Genet. 2023 Apr 6;110(4):663-680. doi: 10.1016/j.ajhg.2023.03.001. Epub 2023 Mar 24. Am J Hum Genet. 2023. PMID: 36965478 Free PMC article.
A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300.
Julià A, Domènech E, Ricart E, Tortosa R, García-Sánchez V, Gisbert JP, Nos Mateu P, Gutiérrez A, Gomollón F, Mendoza JL, Garcia-Planella E, Barreiro-de Acosta M, Muñoz F, Vera M, Saro C, Esteve M, Andreu M, Alonso A, López-Lasanta M, Codó L, Gelpí JL, García-Montero AC, Bertranpetit J, Absher D, Panés J, Marsal S. Julià A, et al. Gut. 2013 Oct;62(10):1440-5. doi: 10.1136/gutjnl-2012-302865. Epub 2012 Aug 30. Gut. 2013. PMID: 22936669
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
Anderson CA, Boucher G, Lees CW, Franke A, D'Amato M, Taylor KD, Lee JC, Goyette P, Imielinski M, Latiano A, Lagacé C, Scott R, Amininejad L, Bumpstead S, Baidoo L, Baldassano RN, Barclay M, Bayless TM, Brand S, Büning C, Colombel JF, Denson LA, De Vos M, Dubinsky M, Edwards C, Ellinghaus D, Fehrmann RS, Floyd JA, Florin T, Franchimont D, Franke L, Georges M, Glas J, Glazer NL, Guthery SL, Haritunians T, Hayward NK, Hugot JP, Jobin G, Laukens D, Lawrance I, Lémann M, Levine A, Libioulle C, Louis E, McGovern DP, Milla M, Montgomery GW, Morley KI, Mowat C, Ng A, Newman W, Ophoff RA, Papi L, Palmieri O, Peyrin-Biroulet L, Panés J, Phillips A, Prescott NJ, Proctor DD, Roberts R, Russell R, Rutgeerts P, Sanderson J, Sans M, Schumm P, Seibold F, Sharma Y, Simms LA, Seielstad M, Steinhart AH, Targan SR, van den Berg LH, Vatn M, Verspaget H, Walters T, Wijmenga C, Wilson DC, Westra HJ, Xavier RJ, Zhao ZZ, Ponsioen CY, Andersen V, Torkvist L, Gazouli M, Anagnou NP, Karlsen TH, Kupcinskas L, Sventoraityte J, Mansfield JC, Kugathasan S, Silverberg MS, Halfvarson J, Rotter JI, Mathew CG, Griffiths AM, Gearry R, Ahmad T, Brant SR, Chamaillard M, Satsangi J, Cho JH, Schreiber S, Daly MJ, Barret… See abstract for full author list ➔ Anderson CA, et al. Nat Genet. 2011 Mar;43(3):246-52. doi: 10.1038/ng.764. Epub 2011 Feb 6. Nat Genet. 2011. PMID: 21297633 Free PMC article.
Crystallization of the Oct-1/SNAP190 peptide/DNA complex.
Hovde S, Brooks A, Strong K, Geiger JH. Hovde S, et al. Acta Crystallogr D Biol Crystallogr. 2002 Mar;58(Pt 3):511-2. doi: 10.1107/s0907444901021461. Epub 2002 Feb 21. Acta Crystallogr D Biol Crystallogr. 2002. PMID: 11856838