检索结果 - Rathi Prasad
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Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome 由 Rathi Prasad, Irene Hadjidemetriou, Avinaash Maharaj, Eirini Meimaridou, Federica Buonocore, Moin A. Saleem, Jenny Hurcombe, Agnieszka Bierżyńska, Eliana Barbagelata, Ignacio Bergadá, Hamilton Cassinelli, Urmi Das, Ruth Krone, Bülent Hacıhamdioğlu, Erkan Sarı, Ediz Yeşilkaya, Helen L. Storr, María Clemente, Mónica Fernández‐Cancio, Núria Camats, Nanik Ram, John C. Achermann, Paul P. Van Veldhoven, Leonardo Guasti, Débora Braslavsky, Tülay Güran, Lou Metherell
出版 2017Artigo -
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Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years’ Experience in the UK 由 Federica Buonocore, Avinaash Maharaj, Younus Qamar, Katrin Koehler, Jenifer P. Suntharalingham, Li Chan, Bruno Ferraz‐de‐Souza, Claire Hughes, Lin Lin, Rathi Prasad, Jeremy Allgrove, Edward Andrews, Charles Buchanan, Tim Cheetham, Elizabeth Crowne, Justin H. Davies, John W Gregory, Peter C. Hindmarsh, Tony Hulse, Nils Krone, Pratik Shah, M Guftar Shaikh, Catherine Roberts, Peter Clayton, Mehul Dattani, N. Simon Thomas, Angela Huebner, Adrian J. L. Clark, Lou Metherell, John C. Achermann
出版 2021Artigo -
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International consensus statement on the diagnosis and management of phaeochromocytoma and paraganglioma in children and adolescents 由 Ruth Casey, Emile Hendriks, Cheri Deal, Steven G. Waguespack, Armin Wiegering, Antje Redlich, Scott Akker, Rathi Prasad, Martin Faßnacht, Roderick Clifton‐Bligh, Laurence Amar, Stefan R. Bornstein, Letizia Canu, Evangelia Charmandari, Alexandra Chrisoulidou, María Currás Freixes, Ronald R. de Krijger, Luisa De Sanctis, Antonio Tito Fojo, Amol J. Ghia, Angela Huebner, Vasilis Kosmoliaptsis, Michaela Kuhlen, Marco Raffaelli, Charlotte Lussey‐Lepoutre, Stephen D. Marks, Naris Nilubol, Mirko Parasiliti–Caprino, Henri H.J.L.M. Timmers, Anna–Lena Zietlow, Mercedes Robledo, Anne‐Paule Gimenez‐Roqueplo, Ashley Grossman, David Taïeb, Eamonn R. Maher, Jacques W.M. Lenders, Graeme Eisenhofer, Camilo Jiménez, Karel Pacák, Christina Pamporaki
出版 2024Revisão
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