תוצאות חיפוש - 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 מאת Catherine Peters, Adeline K. Nicholas, Erik Schoenmakers, Greta Lyons, Shirley Langham, Eva Serra, Neil J. Sebire, Marina Muzza, Laura Fugazzola, Nadia Schoenmakers
יצא לאור 2019Artigo -
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Impact of Electronic Health Record Use on Cognitive Load and Burnout Among Clinicians: Narrative Review מאת Elham Asgari, Japsimar Kaur, Gani Nuredini, Jasmine Balloch, Andrew M. Taylor, Neil J. Sebire, Robert Robinson, Catherine Peters, Shankar Sridharan, Dominic Pimenta
יצא לאור 2024Artigo -
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Thioredoxin Reductase 2 (TXNRD2) Mutation Associated With Familial Glucocorticoid Deficiency (FGD) מאת Rathi Prasad, Li Chan, Claire Hughes, Juan Pablo Kaski, Julia Kowalczyk, Martin O. Savage, Catherine Peters, Nisha Nathwani, Adrian Clark, Helen L. Storr, Lou Metherell
יצא לאור 2014Artigo -
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Assisted reproductive therapies and imprinting disorders—a preliminary British survey מאת Alastair Sutcliffe, Catherine Peters, Sarah Bowdin, I. Karen Temple, William Reardon, Lisa M Wilson, Jill Clayton‐Smith, L A Brueton, Wendy Bannister, Eamonn R. Maher
יצא לאור 2005Artigo -
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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... מאת 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
יצא לאור 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 מאת 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
יצא לאור 2014Artigo -
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Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ מאת 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
יצא לאור 2016Artigo
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