檢索結果 - Clare Beesley

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  1. 1
    Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′-phosphate oxidase

    Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′-phosphate oxidase 由 Philippa B. Mills, Robert Surtees, M. P. Champion, Clare Beesley, Neil Dalton, Peter Scambler, Simon Heales, A. Briddon, Irene Scheimberg, Georg F. Hoffmann, Johannes Zschocke, Peter T. Clayton

    出版 2005
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    Artigo
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  2. 2
    Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II

    Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II 由 M M Hermans, Dik van Leenen, Marian A. Kroos, Clare Beesley, Ans T. van der Ploeg, Hitoshi Sakuraba, Ron A. Wevers, Wim Kleijer, Helen Michelakakis, Edwin P. Kirk, Janice M. Fletcher, N. U. Bosshard, Lina Basel‐Vanagaite, G. T. N. Besley, Arnold Reuser

    出版 2003
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    Artigo
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  3. 3
    Expanding the phenotype in argininosuccinic aciduria: need for new therapies

    Expanding the phenotype in argininosuccinic aciduria: need for new therapies 由 Julien Baruteau, Elisabeth Jameson, Andrew A. M. Morris, Anupam Chakrapani, Saikat Santra, Suresh Vijay, Huriye Kocadag, Clare Beesley, Stephanie Grünewald, Elaine Murphy, Maureen Cleary, Helen Mundy, Lara Abulhoul, Alexander Broomfield, Robin Lachmann, Yusof Rahman, Peter N. Robinson, Lesley MacPherson, Katharine Foster, W.K. Chong, Deborah Ridout, Kirsten McKay Bounford, Simon N. Waddington, Philippa B. Mills, Paul Gissen, James Davison

    出版 2017
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    Artigo
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  4. 4
    Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)

    Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome) 由 Martin Hřebı́ček, Lenka Mrázová, Volkan Seyrantepe, Stéphanie Durand, Nicole M. Roslin, Lenka Nosková, Hana Hartmannová, Robert Ivánek, Alena Čížková, Helena Poupětová, Jakub Sikora, Jana Uřinovská, Viktor Stránecký, J Zeman, Pierre Lepage, David Roquis, Andrei Verner, Jérôme Ausseil, Clare Beesley, Irène Maire, Ben J. H. M. Poorthuis, Jiddeke van de Kamp, Otto P. van Diggelen, Ron A. Wevers, Thomas J. Hudson, Takuya Fujiwara, Jacek Majewski, Kenneth Morgan, Stanislav Kmoch, Alexey V. Pshezhetsky

    出版 2006
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    Artigo
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  5. 5
    Scalable and robust SARS-CoV-2 testing in an academic center

    Scalable and robust SARS-CoV-2 testing in an academic center 由 Jim Aitken, Karen Ambrose, Sam Barrell, Rupert Beale, Ganka Bineva‐Todd, Dhruva Biswas, Richard Byrne, Simon Caidan, Peter Cherepanov, Laura Churchward, Graham Clark, Margaret Crawford, Laura Cubitt, Vicky Dearing, Christopher Earl, A. Edwards, Chris Ekin, Efthymios Fidanis, Alessandra Gaiba, S.J. Gamblin, Sonia Gandhi, Jacki Goldman, Robert Goldstone, Paul R. Grant, Maria Greco, Judith Heaney, Steve Hindmarsh, Catherine Houlihan, Michael Howell, Michael Hubank, Deborah Hughes, Rachael Instrell, Deborah Jackson, Mariam Jamal‐Hanjani, Ming Jiang, Mark Johnson, Leigh Jones, Nnennaya Kanu, George Kassiotis, Stuart A. Kirk, Svend Kjær, Andrew Levett, Lisa J. Levett, Marcel Levi, Wei-Ting Lu, James I. MacRae, J. B. Matthews, Laura E. McCoy, Catherine Moore, David Moore, Eleni Nastouli, Jérôme Nicod, Luke Nightingale, Jessica Olsen, Nicola O’Reilly, Amar Pabari, Venizelos Papayannopoulos, Namita Patel, Nigel Peat, Marc Pollitt, Peter J. Ratcliffe, Caetano Reis e Sousa, Annachiara Rosa, Rachel Rosenthal, Chloë Roustan, Andrew Rowan, Gee Yen Shin, Daniel M. Snell, Ok‐Ryul Song, Moira J. Spyer, Amy Strange, Charles Swanton, James M. A. Turner, Melanie Turner, Andreas Wack, P.A. Walker, Sophia Ward, Wai Keong Wong, J. D. Wright, Mary Wu, Jim Aitken, Zoe Allen, Rachel Ambler, Karen Ambrose, Emma Ashton, Alida Avola, Samutheswari Balakrishnan, Caitlin Barns-Jenkins, Genevieve Barr, Sam Barrell, Souradeep Basu, Rupert Beale, Clare Beesley, Nisha Bhardwaj, Shahnaz Bibi, Ganka Bineva‐Todd, Dhruva Biswas, Michael J. Blackman, Dominique Bonnet, Faye Bowker

    出版 2020
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    Carta
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