检索结果 - Metherell, Lou
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Missplicing due to a synonymous, T96= exonic substitution in the T-box transcription factor TBX19 resulting in isolated ACTH deficiency 由 Maudhoo, Ashwini, Maharaj, Avinaash, Buonocore, Federica, Martos-Moreno, Gabriel Angel, Argente, Jesús, Achermann, John C, Chan, Li F, Metherell, Lou A
出版 2021Text -
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Mylk3 null C57BL/6N mice develop cardiomyopathy, whereas Nnt null C57BL/6J mice do not 由 Williams, Jack L, Paudyal, Anju, Awad, Sherine, Nicholson, James, Grzesik, Dominika, Botta, Joaquin, Meimaridou, Eirini, Maharaj, Avinaash V, Stewart, Michelle, Tinker, Andrew, Cox, Roger D, Metherell, Lou A
出版 2020Text -
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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
出版 2017Text -
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Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause 由 Zhou, Junhua, Azizan, Elena A. B., Cabrera, Claudia P., Fernandes-Rosa, Fabio L., Boulkroun, Sheerazed, Argentesi, Giulia, Cottrell, Emily, Amar, Laurence, Wu, Xilin, O’Toole, Sam, Goodchild, Emily, Marker, Alison, Senanayake, Russell, Garg, Sumedha, Åkerström, Tobias, Backman, Samuel, Jordan, Suzanne, Polubothu, Satyamaanasa, Berney, Daniel M., Gluck, Anna, Lines, Kate E., Thakker, Rajesh V., Tuthill, Antoinette, Joyce, Caroline, Kaski, Juan Pablo, Frankl, Fiona E. Karet, Metherell, Lou A., Teo, Ada E. D., Gurnell, Mark, Parvanta, Laila, Drake, William M., Wozniak, Eva, Klinzing, David, Kuan, Jyn Ling, Tiang, Zenia, Gomez Sanchez, Celso E., Hellman, Per, Foo, Roger S. Y., Mein, Charles A., Kinsler, Veronica A., Björklund, Peyman, Storr, Helen L., Zennaro, Maria-Christina, Brown, Morris J.
出版 2021Text