检索结果 - Catherine Peters
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<i>DUOX2</i>/<i>DUOXA2</i> Mutations Frequently Cause Congenital Hypothyroidism that Evades Detection on Newborn Screening in the United Kingdom 由 Catherine Peters, Adeline K. Nicholas, Erik Schoenmakers, Greta Lyons, Shirley Langham, Eva Serra, Neil J. Sebire, Marina Muzza, Laura Fugazzola, Nadia Schoenmakers
出版 2019Artigo -
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Congenital Hypothyroidism: A 2020–2021 Consensus Guidelines Update—An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and th... 由 A.S. Paul van Trotsenburg, Athanasia Stoupa, Juliane Léger, Tilman Rohrer, Catherine Peters, Laura Fugazzola, Alessandra Cassio, Claudine Heinrichs, Véronique Beauloye, Joachim Pohlenz, Patrice Rodien, R. Coutant, Gabor Szinnai, Philip Murray, Beate Bartès, Dominique Luton, Mariacarolina Salerno, Luisa De Sanctis, Mariacristina Vigone, Heiko Krude, Luca Persani, Michel Polak
出版 2020Revisão -
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Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability 由 Anne Raimondo, Ali Chakera, Soren K. Thomsen, Kevin Colclough, Amy Barrett, Elisa De Franco, Alisson Chatelas, Hüseyin Demirbilek, Teoman Akçay, Hussein Alawneh, Sarah E. Flanagan, Martijn van de Bunt, Andrew T. Hattersley, Anna L. Gloyn, Sian Ellard, Mohammad A. Abduljabbar, Mahmoud Alzyoud, Syed Aman, Louise Bath, Parijat De, Neeta Deshpande, Erdem Durmaz, Frank Eickmeier, Nancy Samir Elbarbary, Marc Fillion, Sujatha Jagadeesh, Melanie Kershaw, Waqas Khan, Wojciech Młynarski, Kathryn Noyes, Catherine Peters, Nick Shaw, Irina Tiron, Doğa Türkkahraman, Lesley Turner, Khadiga Eltonbary, Bilgin Yüksel
出版 2014Artigo -
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Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ 由 Adeline K. Nicholas, Eva Serra, Hakan Cangül, Saif Al-Yaarubi, Irfan Ullah, Erik Schoenmakers, Asma Deeb, Abdelhadi Habeb, Mohammad S. Al-Maghamsi, Catherine Peters, Nisha Nathwani, Zehra Aycan, Halil Sağlam, Ece Böber, Mehul Dattani, Savitha Shenoy, Philip Murray, Amir Babiker, Ruben H. Willemsen, Ajay Thankamony, Greta Lyons, Rachael Irwin, Raja Padidela, Kavitha Tharian, Justin H. Davies, Vijith Puthi, Soo‐Mi Park, Ahmed F. Massoud, John W Gregory, Assunta Albanese, Evelien Pease-Gevers, Howard Martin, Kim Brügger, Eamonn R. Maher, Krishna Chatterjee, Carl A. Anderson, Nadia Schoenmakers
出版 2016Artigo
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