Search Results - Anne Spraul

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    Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis by Marion Almes, Anne Spraul, Mathias Ruiz, Muriel Girard, Bertrand Roquelaure, Nolwenn Laborde, Fréderic Gottrand, Anne Turquet, Thierry Lamireau, Alain Dabadie, Marjorie Bonneton, Alice Thebaut, Babara Rohmer, Florence Lacaille, Pierre Broué, Alexandre Fabre, Karine Mention-Mulliez, Jérôme Bouligand, Emmanuel Jacquemin, Emmanuel Gonzales

    Published in Diagnostics (2022-05-01)
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  2. 2

    Systematic screening for primary immunodeficiencies in patients hospitalized for severe infection in pediatric intensive care unit by Anna Deguet, Marie-Gabrielle Vigue, Claire Lozano, Julien Baleine, Christophe Milesi, Anne Sirvent, Laura Kollen, Léa Domitien, Marjolaine Willems, Jean Donadieu, Christine Bellané-Chantelot, Federica Defendi, Carine El Sissy, Anne Spraul, Jérémie Rosain, Capucine Picard, Joana Pissarra, Caroline Mollevi, Fanchon Herman, Jacinta Bustamante, Eric Jeziorski

    Published in Scientific Reports (2025-07-01)
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  3. 3

    Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency by Antonia Felzen, Daan B.E. van Wessel, Emmanuel Gonzales, Richard J. Thompson, Irena Jankowska, Benjamin L. Shneider, Etienne Sokal, Tassos Grammatikopoulos, Agustina Kadaristiana, Emmanuel Jacquemin, Anne Spraul, Patryk Lipiński, Piotr Czubkowski, Nathalie Rock, Mohammad Shagrani, Dieter Broering, Emanuele Nicastro, Deirdre Kelly, Gabriella Nebbia, Henrik Arnell, Björn Fischler, Jan B.F. Hulscher, Daniele Serranti, Cigdem Arikan, Esra Polat, Dominique Debray, Florence Lacaille, Cristina Goncalves, Loreto Hierro, Gema Muñoz Bartolo, Yael Mozer-Glassberg, Amer Azaz, Jernej Brecelj, Antal Dezsőfi, Pier Luigi Calvo, Enke Grabhorn, Steffen Hartleif, Wendy J. van der Woerd, Binita M. Kamath, Jian-She Wang, Liting Li, Özlem Durmaz, Nanda Kerkar, Marianne Hørby Jørgensen, Ryan Fischer, Carolina Jimenez-Rivera, Seema Alam, Mara Cananzi, Noemie Laverdure, Cristina Targa Ferreira, Felipe Ordoñez Guerrero, Heng Wang, Valerie Sency, Kyung Mo Kim, Huey-Ling Chen, Elisa de Carvalho, Alexandre Fabre, Jesus Quintero Bernabeu, Aglaia Zellos, Estella M. Alonso, Ronald J. Sokol, Frederick J. Suchy, Kathleen M. Loomes, Patrick J. McKiernan, Philip Rosenthal, Yumirle Turmelle, Simon Horslen, Kathleen Schwarz, Jorge A. Bezerra, Kasper Wang, Bettina E. Hansen, Henkjan J. Verkade

    Published in JHEP Reports (2023-02-01)
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