檢索結果 - Bussell, Anna-Marie

In-frame seven amino-acid duplication in AIP arose over the last 3000 years, disrupts protein interaction and stability and is associated with gigantism 由 Salvatori, Roberto, Radian, Serban, Diekmann, Yoan, Iacovazzo, Donato, David, Alessia, Gabrovska, Plamena, Grassi, Giorgia, Bussell, Anna-Marie, Stals, Karen, Weber, Astrid, Quinton, Richard, Crowne, Elizabeth C, Corazzini, Valentina, Metherell, Lou, Kearney, Tara, Du Plessis, Daniel, Sinha, Ajay Kumar, Baborie, Atik, Lecoq, Anne-Lise, Chanson, Philippe, Ansorge, Olaf, Ellard, Sian, Trainer, Peter J, Balding, David, Thomas, Mark G, Korbonits, Márta

獲取全文 獲取全文 獲取全文

Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2 由 Cabezas, Oscar Rubio, Flanagan, Sarah E., Stanescu, Horia, García-Martínez, Elena, Caswell, Richard, Lango-Allen, Hana, Antón-Gamero, Montserrat, Argente, Jesús, Bussell, Anna-Marie, Brandli, Andre, Cheshire, Chris, Crowne, Elizabeth, Dumitriu, Simona, Drynda, Robert, Hamilton-Shield, Julian P, Hayes, Wesley, Hofherr, Alexis, Iancu, Daniela, Issler, Naomi, Jefferies, Craig, Jones, Peter, Johnson, Matthew, Kesselheim, Anne, Klootwijk, Enriko, Koettgen, Michael, Lewis, Wendy, Martos, José María, Mozere, Monika, Norman, Jill, Patel, Vaksha, Parrish, Andrew, Pérez-Cerdá, Celia, Pozo, Jesús, Rahman, Sofia A, Sebire, Neil, Tekman, Mehmet, Turnpenny, Peter D., Hoff, William van’t, Viering, Daan H.H.M., Weedon, Michael N., Wilson, Patricia, Guay-Woodford, Lisa, Kleta, Robert, Hussain, Khalid, Ellard, Sian, Bockenhauer, Detlef

獲取全文 獲取全文 獲取全文

Increased Population Risk of AIP‐Related Acromegaly and Gigantism in Ireland 由 Radian, Serban, Diekmann, Yoan, Gabrovska, Plamena, Holland, Brendan, Bradley, Lisa, Wallace, Helen, Stals, Karen, Bussell, Anna‐Marie, McGurren, Karen, Cuesta, Martin, Ryan, Anthony W., Herincs, Maria, Hernández‐Ramírez, Laura C., Holland, Aidan, Samuels, Jade, Aflorei, Elena Daniela, Barry, Sayka, Dénes, Judit, Pernicova, Ida, Stiles, Craig E., Trivellin, Giampaolo, McCloskey, Ronan, Ajzensztejn, Michal, Abid, Noina, Akker, Scott A., Mercado, Moises, Cohen, Mark, Thakker, Rajesh V., Baldeweg, Stephanie, Barkan, Ariel, Musat, Madalina, Levy, Miles, Orme, Stephen M., Unterländer, Martina, Burger, Joachim, Kumar, Ajith V., Ellard, Sian, McPartlin, Joseph, McManus, Ross, Linden, Gerard J., Atkinson, Brew, Balding, David J., Agha, Amar, Thompson, Chris J., Hunter, Steven J., Thomas, Mark G., Morrison, Patrick J., Korbonits, Márta

獲取全文 獲取全文 獲取全文