Search Results - 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 by 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

    Published 2005
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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 by 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

    Published 2003
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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 by 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

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

    Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome) by 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

    Published 2006
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