Search Results - Patrick Nitschké

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    A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia by Romain Nicolle, Nami Altin, Karine Siquier-Pernet, Sherlina Salignac, Pierre Blanc, Arnold Munnich, Christine Bole-Feysot, Valérie Malan, Barthélémy Caron, Patrick Nitschké, Isabelle Desguerre, Nathalie Boddaert, Marlène Rio, Antonio Rausell, Vincent Cantagrel

    Published 2023
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    Microdeletion on chromosome 8p23.1 in a familial form of severe Buruli ulcer. by Quentin B Vincent, Aziz Belkadi, Cindy Fayard, Estelle Marion, Ambroise Adeye, Marie-Françoise Ardant, Christian R Johnson, Didier Agossadou, Lazaro Lorenzo, Julien Guergnon, Christine Bole-Feysot, Jeremy Manry, Patrick Nitschké, Ioannis Theodorou, Jean-Laurent Casanova, Laurent Marsollier, Annick Chauty, Laurent Abel, Alexandre Alcaïs, Franco-Beninese Buruli Research Group

    Published 2018
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