Hasil Pencarian - Anne Spraul

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  1. 1
    Initial presentation, management and follow-up data of 33 treated patients with hereditary tyrosinemia type 1 in the absence of newborn screening

    Initial presentation, management and follow-up data of 33 treated patients with hereditary tyrosinemia type 1 in the absence of newborn screening oleh Hela Hajji, Apolline Imbard, Anne Spraul, Ludmia Taibi, Valérie Barbier, Dalila Habes, Anaïs Brassier, Jean-Baptiste Arnoux, Juliette Bouchereau, Samia Pichard, Samira Sissaoui, Florence Lacaille, Muriel Girard, Dominique Debray, Pascale de Lonlay, Manuel Schiff

    Diterbitkan 2022-12-01
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  2. 2
    Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis

    Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis oleh 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

    Diterbitkan 2022-05-01
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  3. 3
    Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency

    Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency oleh 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

    Diterbitkan 2023-02-01
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