Prioritisation of head, neck, and respiratory outcomes in mucopolysaccharidosis type II: lessons from a rare disease consensus exercise and comparison of parental and clinical prio... by James Dempsey, Jessica Daniels, Roulla Katiri, Sophie Thomas, Aleksandra Metryka, Mira de Kruijf, Stuart Wilkinson, Simon A. Jones, Iain A. Bruce

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A differential requirement for ciliary transition zone proteins in human and mouse neural progenitor fate specification by Antonia Wiegering, Isabelle Anselme, Ludovica Brunetti, Laura Metayer-Derout, Damelys Calderon, Sophie Thomas, Stéphane Nedelec, Alexis Eschstruth, Valentina Serpieri, Martin Catala, Christophe Antoniewski, Sylvie Schneider-Maunoury, Aline Stedman

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Evolution of mobility, pain/discomfort, self-care, and mental health in patients with alpha-mannosidosis: an international caregiver and patient survey by Karolina M. Stepien, Sophie Thomas, Julia B. Hennermann, Christina Lampe, Nicole M. Muschol, Maria Juliana Ballesta-Martínez, Jordi Cruz, Mónica López-Rodríguez, Anneliese Barth, Martin Magner, Allan M. Lund, Vasilica Plaiasu, Andrea Ballabeni, Francesca Donà, Heather M. Morgan, Nathalie Guffon

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Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation. by Valentina Grampa, Marion Delous, Mohamad Zaidan, Gweltas Odye, Sophie Thomas, Nadia Elkhartoufi, Emilie Filhol, Olivier Niel, Flora Silbermann, Corinne Lebreton, Sophie Collardeau-Frachon, Isabelle Rouvet, Jean-Luc Alessandri, Louise Devisme, Anne Dieux-Coeslier, Marie-Pierre Cordier, Yline Capri, Suonavy Khung-Savatovsky, Sabine Sigaudy, Rémi Salomon, Corinne Antignac, Marie-Claire Gubler, Alexandre Benmerah, Fabiola Terzi, Tania Attié-Bitach, Cécile Jeanpierre, Sophie Saunier

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