检索结果 - Caroline Brain
- Showing 1 - 14 results of 14
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Severe loss‐of‐function mutations in the adrenocorticotropin receptor (ACTHR, <i>MC2R</i>) can be found in patients diagnosed with salt‐losing adrenal hypoplasia 由 Lin Lin, Peter C. Hindmarsh, Lou Metherell, Mahmoud Alzyoud, Maryam Alali, Caroline Brain, Adrian J. L. Clark, Mehul Dattani, John C. Achermann
出版 2006Artigo -
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Hypocalcaemia and vitamin D deficiency: an important, but preventable, cause of life-threatening infant heart failure 由 S. Maiya, Ian Sullivan, Jeremy Allgrove, Robert Yates, M. Malone, Caroline Brain, Nicholas Archer, Quen Mok, Piers E.F. Daubeney, Robert Tulloh, Michael Burch
出版 2007Artigo -
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Germline PRKACA amplification causes variable phenotypes that may depend on the extent of the genomic defect: molecular mechanisms and clinical presentations 由 Maya Lodish, Bo Yuan, Isaac Lévy, Glenn D. Braunstein, Charalampos Lyssikatos, Calvin Ke, Eva Szarek, Alexander S. Karageorgiadis, Elena Belyavskaya, Margarita Raygada, Fábio R. Faucz, Louise Izatt, Caroline Brain, James L. Gardner, Martha Quezado, J. Aidan Carney, James R. Lupski, Constantine A. Stratakis
出版 2015Artigo -
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Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites 由 Fadil Hannan, M. Andrew Nesbit, C. Zhang, Treena Cranston, Alan Curley, Brian Harding, Carl Fratter, Nigel Rust, P. T. Christie, J Turner, Manuel C. Lemos, Michael R. Bowl, R. Bouillon, Caroline Brain, Nicola Bridges, Christine Burren, J. M. C. Connell, Heike Jung, Eileen Marks, D. McCredie, Zulf Mughal, Christine Rodda, Sherida E. Tollefsen, Edward M. Brown, Jing Yang, Rajesh V. Thakker
出版 2012Artigo -
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Prophylactic thyroidectomy in children with multiple endocrine neoplasia type 2 由 Francesco Paolo Prete, Tarek Abdel‐Aziz, Clare Morkane, Caroline Brain, T Kurzawinski, Peter C. Hindmarsh, Mehul Dattani, Helen Spoudeas, Rabbia Amin, John Watkinson, Neil Shaw, Sahir Sultan Alvi, Roly Squire, BJ Harrison, J K Wales, Neil Wright, Peter Clayton, Fiona Eatock, Claire L. Buchanan, Alfonso M. Albanese, Gul Bano, Helen L. Storr, Márta Korbonits, Evelien Gevers, T. Randell, Louise Denvir, Justin H. Davies, Tim Cheetham, Tom Lennard, J Warner, David M. Smith, Liz Crowne, Tony Hulse, Louise Izatt, Joanne Blair
出版 2018Artigo -
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Natural history, treatment, and long-term follow up of patients with multiple endocrine neoplasia type 2B: an international, multicentre, retrospective study 由 Frédéric Castinetti, Steven G. Waguespack, Andreas Machens, Shinya Uchino, Kornelia Hasse-Lazar, Gabriella Sanso, Tobias Else, Šárka Dvořáková, Xiao Ping Qi, Rossella Elisei, Ana Luiza Maia, John Glod, Delmar Muniz Lourenço, Nuria Valdés, Jes Sloth Mathiesen, Nelson Wohllk, Tushar Bandgar, D. Drui, Márta Korbonits, Maralyn Druce, Caroline Brain, Tom Kurzawinski, Attila Patócs, Maria João Bugalho, André Lacroix, Philippe Caron, Patricia Day, Françoise Borson‐Chazot, Marc Klein, Thera P. Links, Claudio Letizia, Laura Fugazzola, Olivier Chabre, Letizia Canu, R. Cohen, Antoine Tabarin, Anita Špehar Uroić, Dominique Maiter, Sandrine Laboureau, Caterina Mian, Mariola Pęczkowska, Frederic Sebag, Thierry Brue, Delphine Mirebeau‐Prunier, Laurence Leclerc, Birke Bausch, A. Berdelou, Akihiro Sukurai, Petr Vlček, Jolanta Krajewska, Marta Barontini, Carla Vaz Ferreira Vargas, Laura Valerio, Lucieli Ceolin, Srivandana Akshintala, Ana O. Hoff, Christian Godballe, Barbara Jarząb, Camilo Jiménez, Charis Eng, Tsuneo Imai, Martin Schlumberger, Elizabeth G. Grubbs, Henning Dralle, Hartmut P.H. Neumann, Éric Baudin
出版 2019Artigo -
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Significant Benefits of <i>AIP</i> Testing and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors 由 Pedro Marques, Francisca Caimari, Laura C. Hernández‐Ramírez, David Collier, Donato Iacovazzo, Amy Ronaldson, Kesson Magid, Chung Thong Lim, Karen Stals, Sian Ellard, Ashley Grossman, Márta Korbonits, Prakash Abraham, Elena Daniela Aflorei, Amar Agha, James Ahlquist, Scott Akker, Krystallenia Alexandraki, Sándor Alföldi, João Anselmo, Wiebke Arlt, Brew Atkinson, Anna Aulinas-Masó, Simon Aylwin, Atik Baborie, Philippe Backeljauw, Corin Badiu, Stephanie Baldeweg, Steve Ball, Gul Bano, Ariel Barkan, John Barton, Julian Barwell, P. C. Bates, Carmen Bernal-González, Michael Besser, John S. Bevan, Alex Bickerton, Joanne Blair, Marek Bolanowski, Pierre Bouloux, Lisa Bradley, Karin Bradley, Caroline Brain, Antonia Brooke, Roger Brown, Michael Buchfelder, Christine Burren, Mehtap Çakır, Natalie Canham, Joël Capraro, Paul Carroll, Philippa Carter, David Carty, Dominic Cavlan, Harvinder Chahal, Tim Cheetham, F. Chentli, Catherine S. Choong, Mirjam Christ‐Crain, Teng‐Teng Chung, Peter Clayton, Richard N. Clayton, Mark L. Cohen, Hamish Courtney, David J. Cove, Elizabeth Crowne, Daniel J. Cuthbertson, Jacob Dal, Nadezhda Dalantaeva, Svetozar Damjanović, Christina Daousi, Ken Darzy, Mehul Dattani, Michaela Davies, Justin Davies, J.R. Davis, Margaret de Castro, Laura De Marinis, Cheri Deal, Judit Dénes, Paul Dimitri, Neil Dorward, Graham Dow, William Drake, Maralyn Druce, Juliana Drummond, Pinaki Dutta, Larisa Dzeranova, Britt Edén Engström, Rosalind A. Eeles, Maria Elfving, Kate Ellis, Marianne S. Elston, Louise Emmerson, Shereen Ezzat, Naomi Fersht, Simona Fica, Stefan Fischli, Maria Fleseriu
出版 2020Artigo
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