نتائج البحث - "Jalas C"

1

دورية أكاديمية

A genomic mutational constraint map using variation in 76,156 human genomes

المؤلفون: Chen, SW, Francioli, LC, Goodrich, JK, Collins, RL, Kanai, M, Wang, QB, Alfoldi, J, Watts, NA, Vittal, C, Gauthier, LD, Poterba, T, Wilson, MW, Tarasova, Y, Phu, W, Grant, R, Yohannes, MT, Koenig, Z, Farjoun, Y, Banks, E, Donnelly, S, Gabriel, S, Gupta, N, Ferriera, S, Tolonen, C, Novod, S, Bergelson, L, Roazen, D, Ruano-Rubio, V, Covarrubias, M, Llanwarne, C, Petrillo, N, Wade, G, Jeandet, T, Munshi, R, Tibbetts, K, O'Donnell-Luria, A, Solomonson, M, Seed, C, Martin, AR, Talkowski, ME, Rehm, HL, Daly, MJ, Tiao, G, Neale, BM, MacArthur, DG, Karczewski, KJ, Abreu, M, Salinas, CAA, Ahmad, T, Albert, CM, Ardissino, D, Armean, IM, Atkinson, EG, Atzmon, G, Barnard, J, Baxter, SM, Beaugerie, L, Benjamin, EJ, Benjamin, D, Boehnke, M, Bonnycastle, LL, Bottinger, EP, Bowden, DW, Bown, MJ, Brand, H, Brant, S, Brookings, T, Bryant, S, Calvo, SE, Campos, H, Chambers, JC, Chan, JC, Chao, KR, Chapman, S, Chasman, DI, Chisholm, R, Cho, J, Chowdhury, R, Chung, MK, Chung, WK, Cibulskis, K, Cohen, B, Connolly, KM, Correa, A, Cummings, BB, Dabelea, D, Danesh, J, Darbar, D, Darnowsky, P, Denny, J, Duggirala, R, Dupuis, J, Ellinor, PT, Elosua, R, Emery, J, England, E, Erdmann, J, Esko, T, Evangelista, E, Fatkin, D, Florez, J, Franke, A, Fu, J, Farkkila, M, Garimella, K, Gentry, J, Getz, G, Glahn, DC, Glaser, B, Glatt, SJ, Goldstein, D, Gonzalez, C, Groop, L, Gudmundsson, S, Haessly, A, Haiman, C, Hall, I, Hanis, CL, Harms, M, Hiltunen, M, Holi, MM, Hultman, CM, Jalas, C, Kallela, M, Kaplan, D, Kaprio, J, Kathiresan, S, Kenny, EE, Kim, BJ, Kim, YJ, King, D, Kirov, G, Kooner, J, Koskinen, S, Krumholz, HM, Kugathasan, S, Kwak, SH, Laakso, M, Lake, N, Langsford, T, Laricchia, KM, Lehtimaki, T, Lek, M, Lipscomb, E, Loos, RJF, Lu, WH, Lubitz, SA, Luna, TT, Ma, RCW, Marcus, GM, Marrugat, J, Mattila, KM, McCarroll, S, McCarthy, MI, McCauley, JL, McGovern, D, McPherson, R, Meigs, JB, Melander, O, Metspalu, A, Meyers, D, Minikel, EV, Mitchell, BD, Mootha, VK, Naheed, A, Nazarian, S, Nilsson, PM, O'Donovan, MC, Okada, Y, Ongur, D, Orozco, L, Owen, MJ, Palmer, C, Palmer, ND, Palotie, A, Park, KS, Pato, C, Pulver, AE, Rader, D, Rahman, N, Reiner, A, Remes, AM, Rhodes, D, Rich, S, Rioux, JD, Ripatti, S, Roden, DM, Rotter, JI, Sahakian, N, Saleheen, D, Salomaa, V, Saltzman, A, Samani, NJ, Samocha, KE, Sanchis-Juan, A, Scharf, J, Schleicher, M, Schunkert, H, Schonherr, S, Seaby, EG, Shah, SH, Shand, M, Sharpe, T, Shoemaker, MB, Shyong, T, Silverman, EK, Singer-Berk, M, Sklar, P, Smith, JT, Smith, JG, Soininen, H, Sokol, H, Son, RG, Soto, J, Spector, T, Stevens, C, Stitziel, NO, Sullivan, PF, Suvisaari, J, Tai, ES, Taylor, KD, Teo, YY, Tsuang, M, Tuomi, T, Turner, D, Tusie-Luna, T, Vartiainen, E, Vawter, M, Wang, L, Wang, A, Ware, JS, Watkins, H, Weersma, RK, Weisburd, B, Wessman, M, Whiffin, N, Wilson, JG, Xavier, RJ

المصدر: Nature. 625(7993):92-100

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:154746474

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2

دورية أكاديمية

Identification of a novel pathogenic OTOF variant causative of nonsyndromic hearing loss with high frequency in the Ashkenazi Jewish population

المؤلفون: Fedick AM, Jalas C, Swaroop A, Smouha EE, Webb BD

المصدر: The Application of Clinical Genetics, Vol Volume 9, Pp 141-146 (2016)

مصطلحات موضوعية: Hearing loss, OTOF, c.5332G>T, p.Val1778Phe, Ashkenazi Jewish, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.dovepress.com/identification-of-a-novel-pathogenic-otof-variant-causative-of-nonsynd-peer-reviewed-article-TACG; https://doaj.org/toc/1178-704X

URL الوصول: https://doaj.org/article/912acff3e93f46258afe8964ada33003

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3

دورية أكاديمية

When next-generation sequencing-based preimplantation genetic testing for aneuploidy (PGT-A) yields an inconclusive report: diagnostic results and clinical outcomes after re biopsy

المؤلفون: Neal, Shelby A.^{Aff1, Aff2}, Sun, L., Jalas, C., Morin, S. J.^{Aff1, Aff3}, Molinaro, T. A., Scott, Jr, R. T.

المصدر: Journal of Assisted Reproduction and Genetics: An Official Journal of the American Society for Reproductive Medicine. 36(10):2103-2109

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Large-scale sequencing identifies multiple genes and rare variants associated with Crohn’s disease susceptibility

المؤلفون: Sazonovs, A., Stevens, C.R., Venkataraman, G.R., Yuan, K., Avila, B., Abreu, M.T., Ahmad, T., Allez, M., Ananthakrishnan, A.N., Atzmon, G., Baras, A., Barrett, J.C., Barzilai, N., Beaugerie, L., Beecham, A., Bernstein, C.N., Bitton, A., Bokemeyer, B., Chan, A., Chung, D., Cleynen, I., Cosnes, J., Cutler, D.J., Daly, A., Damas, O.M., Datta, L.W., Dawany, N., Devoto, M., Dodge, S., Ellinghaus, E., Fachal, L., Farkkila, M., Faubion, W., Ferreira, M., Franchimont, D., Gabriel, S.B., Ge, T., Georges, M., Gettler, K., Giri, M., Glaser, B., Goerg, S., Goyette, P., Graham, D., Hamalainen, E., Haritunians, T., Heap, G.A., Hiltunen, M., Hoeppner, M., Horowitz, J.E., Irving, P., Iyer, V., Jalas, C., Kelsen, J., Khalili, H., Kirschner, B.S., Kontula, K., Koskela, J.T., Kugathasan, S., Kupcinskas, J., Lamb, C.A., Laudes, M., Levesque, C., Levine, A.P., Lewis, J.D., Liefferinckx, C., Loescher, B.S., Louis, E., Mansfield, J., May, S., McCauley, J.L., Mengesha, E., Mni, M., Moayyedi, P., Moran, C.J., Newberry, R.D., O'Charoen, S., Okou, D.T., Oldenburg, B., Ostrer, H., Palotie, A., Paquette, J., Pekow, J., Peter, I., Pierik, M.J., Ponsioen, C.Y., Pontikos, N., Prescott, N., Pulver, A.E., Rahmouni, S., Rice, D.L., Saavalainen, P., Sands, B., Sartor, R.B., Schiff, E.R., Schreiber, S., Schumm, L.P., Segal, A.W., Seksik, P., Shawky, R., Sheikh, S.Z., Silverberg, M.S., Simmons, A., Skeiceviciene, J., Sokol, H., Solomonson, M., Somineni, H., Sun, D., Targan, S., Turner, D., Uhlig, H.H., Meulen, A.E. van der, Vermeire, S., Verstockt, S., Voskuil, M.D., Winter, H.S., Young, J., Duerr, R.H., Franke, A., Brant, S.R., Cho, J., Weersma, R.K., Parkes, M., Xavier, R.J., Rivas, M.A., Rioux, J.D., McGovern, D.P.B., Huang, H.L., Anderson, C.A., Daly, M.J., Belgium IBD Consortium, Cedars-Sinai IBD, International IBD Genetics Consortium, NIDDK IBD Genetics Consortium, NIHR IBD BioResource, Regeneron Genetics Center, SHARE Consortium, SPARC IBD Network, UK IBD Genetics Consortium

المساهمون: Interne Geneeskunde, MUMC+: MA Maag Darm Lever (9), RS: NUTRIM - R2 - Liver and digestive health, Gastroenterology and Hepatology, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI)

المصدر: Nat Genet
Nature Genetics, 54(9), 1275-1283. NATURE PORTFOLIO
Nature Genetics, 54(9), 1275-1283. Nature Publishing Group
Nature genetics, 54(9), 1275-1283. Nature Publishing Group
Nature genetics, 54. Nature Publishing Group

مصطلحات موضوعية: Crohn Disease, Genetics, Humans, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Article, Genome-Wide Association Study

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d61dd8604983cefcbb14ba01bd625b4b
https://europepmc.org/articles/PMC9700438/

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