Showing 1 - 4 results of 4 for search 'Pascale Saugier‐Veber', query time: 0.02s
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Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing by François Lecoquierre, Kévin Cassinari, Nathalie Drouot, Angèle May, Steeve Fourneaux, Francoise Charbonnier, Celine Derambure, Sophie Coutant, Pascale Saugier-Veber, Alexander Hoischen, Camille Charbonnier, Gaël Nicolas
Published 2024-03-01
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NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation by Ivana Dabaj, Bénédicte Sudrié-Arnaud, François Lecoquierre, Kimiyo Raymond, Franklin Ducatez, Anne-Marie Guerrot, Sarah Snanoudj, Sophie Coutant, Pascale Saugier-Veber, Stéphane Marret, Gaël Nicolas, Abdellah Tebani, Soumeya Bekri
Published 2021-02-01
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Murine MPDZ‐linked hydrocephalus is caused by hyperpermeability of the choroid plexus by Junning Yang, Claire Simonneau, Robert Kilker, Laura Oakley, Matthew D Byrne, Zuzana Nichtova, Ioana Stefanescu, Fnu Pardeep‐Kumar, Sushil Tripathi, Eric Londin, Pascale Saugier‐Veber, Belinda Willard, Mathew Thakur, Stephen Pickup, Hiroshi Ishikawa, Horst Schroten, Richard Smeyne, Arie Horowitz
Published 2019-01-01
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Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance by Valerie Jacquemin, Nassim Versbraegen, Sarah Duerinckx, Annick Massart, Julie Soblet, Camille Perazzolo, Nicolas Deconinck, Elise Brischoux-Boucher, Anne De Leener, Nicole Revencu, Sandra Janssens, Stèphanie Moorgat, Bettina Blaumeiser, Kristiina Avela, Renaud Touraine, Imad Abou Jaoude, Kathelijn Keymolen, Pascale Saugier-Veber, Tom Lenaerts, Marc Abramowicz, Isabelle Pirson
Published 2023-03-01
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