Zobrazeno 1 - 10
of 56
pro vyhledávání: '"Shawky R"'
Autor:
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
Publikováno v:
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
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
Genome-wide association studies (GWASs) have identified hundreds of loci associated with Crohn's disease (CD). However, as with all complex diseases, robust identification of the genes dysregulated by noncoding variants typically driving GWAS discove
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d61dd8604983cefcbb14ba01bd625b4b
https://europepmc.org/articles/PMC9700438/
https://europepmc.org/articles/PMC9700438/
Akademický článek
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Autor:
Schuum P, Daniel B. Graham, Sun D, Seksik P, David T. Okou, Daniel L. Rice, David J. Cutler, Martti Färkkilä, Liefferinckx C, Segal Aw, Andrew T. Chan, Denis Franchimont, Beecham A, Subra Kugathasan, Stacey Gabriel, Stefan Schreiber, Baras A, Kirschner Bs, Goerg S, Juozas Kupcinskas, Jukka Koskela, John C. Mansfield, Kyle Gettler, Devoto M, Dobes A, Debby Laukens, Richard H. Duerr, Myriam Mni, Loescher B, Cosnes J, Mengesha E, William A. Faubion, Joshua Lewis, Graham A. Heap, Voskuil, Christine Stevens, Pekow J, Lisa W. Datta, Adam P. Levine, Khalili H, O’Charoen S, Dan Turner, Nikolas Pontikos, Natalie J. Prescott, Inga Peter, Marc P. Hoeppner, Chung D, Mark S. Silverberg, Dodge S, Talin Haritunians, Moayyedi P, Winter Hs, John D. Rioux, Andre Franke, Holm H. Uhlig, Ferreira M, Matthew Solomonson, Sokol H, Damas Om, Ramnik J. Xavier, Horowitz Je, Iyer, Eija Hämäläinen, Avila B, Dawany N, Newberry R, Bernstein C, Shawky R, Benjamin Glaser, Alison Simmons, Mamta Giri, Bruce E. Sands, Ann E. Pulver, Yuan K, Abreu Mt, Gil Atzmon, Allez M, Young J, Verstockt S, Aarno Palotie, Hongyan Huang, Kimmo Kontula, Ellinghaus E, van der Meulen Ae, Ahmad T, Oldenburg B, Cyriel Y. Ponsioen, Daly A, Dermot P.B. McGovern, Jeffrey C. Barrett, Peter M. Irving, Miles Parkes, Jacob L. McCauley, Päivi Saavalainen, Pierik Mj, Alain Bitton, Guhan Venkataraman, Rinse K. Weersma, Schiff Er, Manuel A. Rivas, Harry Ostrer, Bokemeyer B, Judy H. Cho, Sandra May, Michel Georges, Isabelle Cleynen, Moran Cj, Laudes M, Beaugerie L, Laura Fachal, Nir Barzilai, Mikko Hiltunen, Somineni H, Stephan R. Targan, Skeiceviciene J, Kelsen J, Sartor Br, Christopher A. Lamb, Philippe Goyette, Steven R. Brant, Souad Rahmouni, Mark J. Daly, Sheikh Sz, Edouard Louis, Jalas C, Carl A. Anderson, Severine Vermeire, Aleksejs Sazonovs
Genome-wide association studies (GWAS) have identified hundreds of loci associated with Crohns disease (CD), however, as with all complex diseases, deriving pathogenic mechanisms from these non-coding GWAS discoveries has been challenging. To complem
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1cb230603fc89c4e9c9583e329f9ebeb
https://doi.org/10.1101/2021.06.15.21258641
https://doi.org/10.1101/2021.06.15.21258641
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Publikováno v:
Disease Markers. 2004, Vol. 20 Issue 6, p325-332. 8p.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Publikováno v:
Egyptian Journal of Medical Human Genetics; Vol 15, No 4 (2014); 393-398
We report a 7 year old female child with the classical triad of Meier-Gorlin syndrome (MGS), (microtia, absent patella and short stature). She had the characteristic facial features, with normal mentality and defective speech, skeletal abnormalities,
Publikováno v:
Egyptian Journal of Medical Human Genetics; Vol 15, No 4 (2014); 399-403
We report the case of a 2.5 year old female, 2nd in order of birth of 1st cousin consanguineous marriage, with the typical features of Oral–Facial–Digital Syndrome type VI (OFDS VI) including midline pseudo cleft upper lip, sublingual nodule, mol
Autor:
Shawky, R M
Publikováno v:
Egyptian Journal of Medical Human Genetics; Vol 15, No 4 (2014); iii-iv
No abstract
Publikováno v:
Egyptian Journal of Medical Human Genetics; Vol 15, No 4 (2014); 335-341
Background: Classical autism belongs to a group of heterogeneous neurobehavioral disorders known as autism spectrum disorders (ASDs) characterized by abnormalities in social interaction, impaired communication, and repetitive stereotypic behaviors. O