Zobrazeno 1 - 10
of 47
pro vyhledávání: '"Brugger, Kim"'
Autor:
Gleadall, Nicholas S. *, *, Veldhuisen, Barbera *, Gollub, Jeremy *, Butterworth, Adam S., Ord, John, Penkett, Christopher J., Timmer, Tiffany C., Sauer, Carolin M., van der Bolt, Nieke, Brown, Colin, Brugger, Kim, Dilthey, Alexander T., Duarte, Daniel, Grimsley, Shane, van den Hurk, Katja, Jongerius, John M., Luken, Jessie, Megy, Karyn, Miflin, Gail, Nelson, Christopher S., Prinsze, Femmeke J., Sambrook, Jennifer, Simeoni, Ilenia, Sweeting, Michael, Thornton, Nicole, Trompeter, Sara, Tuna, Salih, Varma, Ram, Walker, Matthew R., Danesh, John, Roberts, David J., Ouwehand, Willem H., Stirrups, Kathleen E., Rendon, Augusto, Westhoff, Connie M., Di Angelantonio, Emanuele, van der Schoot, C. Ellen, Astle, William J., Watkins, Nicholas A., Lane, William J.
Publikováno v:
In Blood Advances 11 August 2020 4(15):3495-3506
Akademický článek
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Autor:
Lam, Max, Awasthi, Swapnil, Watson, Hunna J., Goldstein, Jackie, Panagiotaropoulou, Georgia, Trubetskoy, Vassily, Karlsson, Robert, Frei, Oleksandr, Fan, Chun-Chieh, De Witte, Ward, Mota, Nina R., Brugger, Kim, Lee, S. Hong, Wray, Naomi R., Skarabis, Nora, Huang, Hailiang, Neale, Benjamin M., Daly, Mark J., Mattheisen, Manuel, Walters, Raymond K., Ripke, Stephan
Publikováno v:
Lam, Max Awasthi, Swapnil Watson, Hunna J. Goldstein, Jackie Panagiotaropoulou, Georgia Trubetskoy, Vassily Karlsson, Robert Frei, Oleksandr Fan, Chun-Chieh De Witte, Ward Mota, Nina R. Brugger, Kim Lee, S. Hong Wray, Naomi R. Skarabis, Nora Huang, Hailiang Neale, Benjamin M. Daly, Mark J. Mattheisen, Manuel Walters, Raymond K. Ripke, Stephan . RICOPILI: Rapid Imputation for COnsortias PIpeLIne. Bioinformatics. 2019
Bioinformatics
Bioinformatics
Externí odkaz:
http://hdl.handle.net/10852/75496
https://www.duo.uio.no/bitstream/handle/10852/75496/2/btz633.pdf
https://www.duo.uio.no/bitstream/handle/10852/75496/2/btz633.pdf
Autor:
Gleadall, Nicholas S, Veldhuisen, Barbera, Gollub, Jeremy, Butterworth, Adam S, Ord, John, Penkett, Christopher J, Timmer, Tiffany C, Sauer, Carolin M, Van Der Bolt, Nieke, Brown, Colin, Brugger, Kim, Dilthey, Alexander T, Duarte, Daniel, Grimsley, Shane, Van Den Hurk, Katja, Jongerius, John M, Luken, Jessie, Megy, Karyn, Miflin, Gail, Nelson, Christopher S, Prinsze, Femmeke J, Sambrook, Jennifer, Simeoni, Ilenia, Sweeting, Michael, Thornton, Nicole, Trompeter, Sara, Tuna, Salih, Varma, Ram, Walker, Matthew R, NIHR BioResource, Danesh, John, Roberts, David J, Ouwehand, Willem H, Stirrups, Kathleen E, Rendon, Augusto, Westhoff, Connie M, Di Angelantonio, Emanuele, Van Der Schoot, C Ellen, Astle, William J, Watkins, Nicholas A, Lane, William J
Each year, blood transfusions save millions of lives. However, under current blood-matching practices, sensitization to non-self-antigens is an unavoidable adverse side effect of transfusion. We describe a universal donor typing platform that could b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bc9351a4fc1418a5fcea574da3536ec
https://www.repository.cam.ac.uk/handle/1810/306910
https://www.repository.cam.ac.uk/handle/1810/306910
Akademický článek
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Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Nicholas, Adeline K, Serra, Eva G, Cangul, Hakan, Alyaarubi, Saif, Ullah, Irfan, Schoenmakers, Erik, Deeb, Asma, Habeb, Abdelhadi M, Almaghamsi, Mohammad, Peters, Catherine, Nathwani, Nisha, Aycan, Zehra, Saglam, Halil, Bober, Ece, Dattani, Mehul, Shenoy, Savitha, Murray, Philip G, Babiker, Amir, Willemsen, Ruben, Thankamony, Ajay, Lyons, Greta, Irwin, Rachael, Padidela, Raja, Tharian, Kavitha, Davies, Justin H, Puthi, Vijith, Park, Soo-Mi, Massoud, Ahmed F, Gregory, John W, Albanese, Assunta, Pease-Gevers, Evelien, Martin, Howard, Brugger, Kim, Maher, Eamonn R, Chatterjee, V Krishna K, Anderson, Carl A, Schoenmakers, Nadia
Publikováno v:
The Journal of Clinical Endocrinology and Metabolism
Nicholas, A K, Serra, E G, Cangul, H, Alyaarubi, S, Ullah, I, Schoenmakers, E, Deeb, A, Habeb, A M, Almaghamsi, M, Peters, C, Nathwani, N, Aycan, Z, Saglam, H, Bober, E, Dattani, M, Shenoy, S, Murray, P G, Babiker, A, Willemsen, R, Thankamony, A, Lyons, G, Irwin, R, Padidela, R, Tharian, K, Davies, J H, Puthi, V, Park, S-M, Massoud, A F, Gregory, J W, Albanese, A, Pease-Gevers, E, Martin, H, Brugger, K, Maher, E R, Chatterjee, V K K, Anderson, C A & Schoenmakers, N 2016, ' Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ ', The Journal of Clinical Endocrinology and Metabolism, vol. 101, no. 12, pp. 4521-4531 . https://doi.org/10.1210/jc.2016-1879
Nicholas, A K, Serra, E G, Cangul, H, Alyaarubi, S, Ullah, I, Schoenmakers, E, Deeb, A, Habeb, A M, Almaghamsi, M, Peters, C, Nathwani, N, Aycan, Z, Saglam, H, Bober, E, Dattani, M, Shenoy, S, Murray, P G, Babiker, A, Willemsen, R, Thankamony, A, Lyons, G, Irwin, R, Padidela, R, Tharian, K, Davies, J H, Puthi, V, Park, S-M, Massoud, A F, Gregory, J W, Albanese, A, Pease-Gevers, E, Martin, H, Brugger, K, Maher, E R, Chatterjee, V K K, Anderson, C A & Schoenmakers, N 2016, ' Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ ', The Journal of Clinical Endocrinology and Metabolism, vol. 101, no. 12, pp. 4521-4531 . https://doi.org/10.1210/jc.2016-1879
Context: Lower TSH screening cutoffs have doubled the ascertainment of congenital hypothyroidism (CH), particularly cases with a eutopically located gland-in-situ (GIS). Although mutations in known dyshormonogenesis genes or TSHR underlie some cases
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::0db38b423aebd37dd442bfb2eec37222
https://avesis.deu.edu.tr/publication/details/a9be71ee-4f58-47c1-9dfb-ba7f09647e55/oai
https://avesis.deu.edu.tr/publication/details/a9be71ee-4f58-47c1-9dfb-ba7f09647e55/oai
Autor:
Nicholas, Adeline K., Serra, Eva G., Cangül, Hakan, Alyaarubi, Saif, Ullah, Irfan, Schoenmakers, Erik, Deeb, Asma, Habeb, Abdelhadi M., Almaghamsi, Mohammad, Peters, Catherine, Nathwani, Nisha, Aycan, Zehra, Bober, Ece, Dattani, Mehul, Shenoy, Savitha, Murray, Philip G., Babiker, Amir, Willemsen, Ruben, Thankamony, Ajay, Lyons, Greta, Irwin, Rachael, Padidela, Raja, Tharian, Kavitha, Davies, Justin H., Puthi, Vijith, Park, Soo-Mi, Massoud, Ahmed F., Gregory, John W., Albanese, Assunta, Pease-Gevers, Evelien, Martin, Howard, Brugger, Kim, Maher, Eamonn R., Chatterjee, V. Krishna K., Anderson, Carl A., Schoenmakers, Nadia
Context: Lower TSH screening cutoffs have doubled the ascertainment of congenital hypothyroidism (CH), particularly cases with a eutopically located gland-in-situ (GIS). Although mutations in known dyshormonogenesis genes or TSHR underlie some cases
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______9458::3810ac6a99c7dd94cdc363c1031129f2
http://hdl.handle.net/11452/28837
http://hdl.handle.net/11452/28837
Autor:
Rainbow, Daniel B., Yang, Xin, Burren, Oliver, Pekalski, Marcin L., Smyth, Deborah J., Klarqvist, Marcus D. R., Penkett, Christopher J., Brugger, Kim, Martin, Howard, Todd, John A., Wallace, Chris, Wicker, Linda S.
Publikováno v:
European Journal of Immunology
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::bdb6cd58e3d3f74a3ef0e22830b73908
https://www.repository.cam.ac.uk/handle/1810/250300
https://www.repository.cam.ac.uk/handle/1810/250300
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.