Torthaí cuardaigh - Charles Buchanan
- 1 - 9 toradh as 9 á dtaispeáint
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SOX2 haploinsufficiency is associated with slow progressing hypothalamo‐pituitary tumours de réir Kyriaki S. Alatzoglou, Cynthia L. Andoniadou, Daniel Kelberman, Charles Buchanan, John A. Crolla, Maria Cristina Arriazu, Martin Roubicek, Daniel Moncet, Juan Pedro Martı́nez-Barberá, Mehul Dattani
Foilsithe / Cruthaithe 2011Artigo -
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Wolcott-Rallison Syndrome Is the Most Common Genetic Cause of Permanent Neonatal Diabetes in Consanguineous Families de réir Oscar Rubio‐Cabezas, Ann‐Marie Patch, Jayne A.L. Minton, Sarah E. Flanagan, Emma L. Edghill, Khalid Hussain, A. Balafrej, Asma Deeb, Charles Buchanan, I G Jefferson, Angham Al Mutair, Andrew T. Hattersley, Sian Ellard
Foilsithe / Cruthaithe 2009Artigo -
4
Resistance to thyroid hormone caused by a mutation in thyroid hormone receptor (TR)α1 and TRα2: clinical, biochemical, and genetic analyses of three related patients de réir Carla Moran, Maura Agostini, W. Edward Visser, Erik Schoenmakers, Nadia Schoenmakers, Amaka C Offiah, Ken Poole, Odelia Rajanayagam, Greta Lyons, David Halsall, Mark Gurnell, Dionisios Chrysis, Alexandra Efthymiadou, Charles Buchanan, Simon Aylwin, Krishna Chatterjee
Foilsithe / Cruthaithe 2014Artigo -
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Variations in<i>PROKR2</i>, But Not<i>PROK2</i>, Are Associated With Hypopituitarism and Septo-optic Dysplasia de réir Mark J. McCabe, Carles Gaston‐Massuet, Louise Gregory, Kyriaki S. Alatzoglou, Vaitsa Tziaferi, Oualid Sbai, Philippe Rondard, Koh‐hei Masumoto, Mamoru Nagano, Yasufumi Shigeyoshi, Marija Pfeifer, Tony Hulse, Charles Buchanan, Nelly Pitteloud, Juan Pedro Martı́nez-Barberá, Mehul Dattani
Foilsithe / Cruthaithe 2013Artigo -
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Prevalence of Mutations in <i>AGPAT2</i> Among Human Lipodystrophies de réir Jocelyne Magré, Marc Délepine, Lionel Van Maldergem, Jean‐Jacques Robert, J. Antonie Maassen, Muriel Meier, Vanessa R. Panz, Chong Ae Kim, Nadia Tubiana‐Rufi, Paul Czernichow, E Seemanová, Charles Buchanan, Didier Lacombe, Corinne Vigouroux, Olivier Lascols, C. Ronald Kahn, Jacqueline Capeau, Mark Lathrop
Foilsithe / Cruthaithe 2003Artigo -
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Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years’ Experience in the UK de réir 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
Foilsithe / Cruthaithe 2021Artigo -
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Pathogen-sugar interactions revealed by universal saturation transfer analysis de réir Charles Buchanan, Ben Gaunt, Peter J. Harrison, Yun Yang, Jiwei Liu, Aziz Khan, Andrew M. Giltrap, Audrey Le Bas, Philip N. Ward, Kapil Gupta, Maud Dumoux, Tiong Kit Tan, Lisa Schimaski, Sergio Daga, Nicola Picchiotti, Margherita Baldassarri, Elisa Benetti, Chiara Fallerini, Francesca Fava, Annarita Giliberti, Panagiotis I. Koukos, Matthew Davy, Abirami Lakshminarayanan, Xiaochao Xue, Georgios Papadakis, Lachlan P. Deimel, Virgínia Casablancas-Antràs, Timothy D. W. Claridge, Alexandre M. J. J. Bonvin, Quentin J. Sattentau, Simone Furini, Marco Gori, Jiandong Huo, Raymond J. Owens, Christiane Schaffitzel, Imre Berger, Alessandra Renieri, James H. Naismith, Andrew J. Baldwin, Benjamin G. Davis
Foilsithe / Cruthaithe 2022Artigo -
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Visual impairment, severe visual impairment, and blindness in children in Britain (BCVIS2): a national observational study de réir Lucinda Teoh, Ameenat Lola Solebo, Jugnoo S. Rahi, Joe Abbott, Wajda Abdullah, Gill Adams, Louise Allen, Christopher M. Anderson, Karen Ansell, Samira Anwar, Isabel M Ash, Jane Ashworth, Sher A. Aslam, Majunath Astagi, Colin Ball, Rajesh Balu, Victoria Barrett, Z. Bassi, Adam Bates, Dushyant Batra, Sarah Bell, Linda Belmour, James Benzimra, Ginny Birrell, Susmito Biswas, Andrew Blaikie, M S J Blundell, Kate Bolton, Ewoud Bos, Pamela G. Bowen, Richard Bowman, Natalie Boyle, John Bradbury, Maria Bredow, Marsel Bregu, Nicholas Brennan, Rosie Brennan, Paul Brittain, Charles Buchanan, Catey Bunce, Howard Bunting, Priscilla Burgess, Cathie Burke, Alexandra Kate Bush, Jeremy Butcher, Lucilla Butler, Clare Cane, Cathryn Chadwick, Ruth Charlton, Anne‐Marie Childs, Jessy Choi, Vivi Choleva, A Churchill, Michael W. Clarke, Peter Clayton, Luke Clifford, Alan Connor, Rachel Cox, Lyn Cresswell, Annegret Dahlmann‐Noor, Angela D’Amore, Mehul Dattani, Fiona Dean, Anita Devlin, Luna Dhir, Cora Doherty, S E Dorey, Fiona Drimmie, Tina Duke, Gordon N. Dutton, F.B. Eaton, Megan Eaton, Danielle Eckersley, Clive Edelsten, Rachel Elderkin, Julia Ennis, J A Escardó-Paton, Ziad Estephen, Onajite Etuwewe, Anthony Evans, Adjoa Ezekwe, Jenny Fairfield, Kevin Falzon, Allison Ferguson, Brian W. Fleck, Mary Gainsborough, Alexandra Galloway, Naomi Gerson-Sofer, Caspar Gibbon, Patricia Gibson, Kevin C. W. Goss, Katherine Graham-Evans, Judith Gray, Anna Gregory, Arun Gulati, Deniz Gurtin-Zorkun, Emma Guy, Diab Haddad, Helen R. Haggerty, P M Haigh
Foilsithe / Cruthaithe 2021Artigo
Uirlisí cuardaigh:
Ábhair a bhaineann le hábhar
Biology
Medicine
Genetics
Internal medicine
Endocrinology
Gene
Pediatrics
Hormone
Mutation
Hypopituitarism
Missense mutation
Pathology
Phenotype
Adrenal insufficiency
Alternative medicine
Anophthalmia
Anosmia
Antiretroviral therapy
Breast cancer
Cancer
Cancer research
Cell biology
Chemistry
Childhood blindness
Cohort
Cohort study
Compound heterozygosity
Computational biology
Congenital adrenal hyperplasia
Consanguineous Marriage