Kết quả tìm kiếm - Fabienne Charbit‐Henrion

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  1. 1
    Tubulin mutations in human neurodevelopmental disorders

    Tubulin mutations in human neurodevelopmental disorders Bằng Camille Maillard, Charles Joris Roux, Fabienne Charbit‐Henrion, Julie Steffann, Annie Laquerrière, Floriane Quazza, Nadia Bahi Buisson

    Được phát hành 2022
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  2. 2
    Early and Late Complications After Liver Transplantation for Propionic Acidemia in Children: A Two Centers Study

    Early and Late Complications After Liver Transplantation for Propionic Acidemia in Children: A Two Centers Study Bằng Fabienne Charbit‐Henrion, Florence Lacaille, Patrick McKiernan, M Girard, Pascale de Lonlay, Vassili Valayannopoulos, Chris Ottolenghi, Anupam Chakrapani, M A Preece, Khalid Sharif, Christophe Chardot, Philippe Hubert, Laurent Dupic

    Được phát hành 2015
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    Artigo
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  3. 3
    Clinical Heterogeneity of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome: A French Multicenter Retrospective Study

    Clinical Heterogeneity of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome: A French Multicenter Retrospective Study Bằng Rémi Duclaux‐Loras, Fabienne Charbit‐Henrion, Bénédicte Neven, Jan Krzysztof Nowak, Sophie Collardeau‐Frachon, Christophe Malcus, Pierre F. Ray, Despina Moshous, Jacques Beltrand, Olivier Goulet, Nadine Cerf‐Bensussan, Alain Lachaux, Frédéric Rieux‐Laucat, Frank M. Ruemmele

    Được phát hành 2018
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    Artigo
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  4. 4
    Loss-of-Function Mutation in PTPN2 Causes Aberrant Activation of JAK Signaling Via STAT and Very Early Onset Intestinal Inflammation

    Loss-of-Function Mutation in PTPN2 Causes Aberrant Activation of JAK Signaling Via STAT and Very Early Onset Intestinal Inflammation Bằng Marianna Parlato, Qing Nian, Fabienne Charbit‐Henrion, Frank M. Ruemmele, Fernando Rodrigues‐Lima, Nadine Cerf‐Bensussan, Bernadette Bègue, Jérémy Berthelet, Kaan Boztuğ, Sylvain Latour, Rémi Duclaux‐Loras, Marco Maggioni, Emmanuel Martin, Thierry Jo Molina, Júlia Pázmándi, Frédéric Rieux‐Laucat

    Được phát hành 2020
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    Artigo
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  5. 5
    Clinical Genomics for the Diagnosis of Monogenic Forms of Inflammatory Bowel Disease

    Clinical Genomics for the Diagnosis of Monogenic Forms of Inflammatory Bowel Disease Bằng Holm H. Uhlig, Fabienne Charbit‐Henrion, Daniel Kotlarz, Dror S. Shouval, Tobias Schwerd, Caterina Strisciuglio, Lissy de Ridder, Johan Van Limbergen, Marina Macchi, Scott B. Snapper, Frank M. Ruemmele, David C. Wilson, Simon Travis, Anne M. Griffiths, Dan Turner, Christoph Klein, Aleixo M. Muise, Richard K. Russell

    Được phát hành 2020
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  6. 6
    Human <scp>ALPI</scp> deficiency causes inflammatory bowel disease and highlights a key mechanism of gut homeostasis

    Human <scp>ALPI</scp> deficiency causes inflammatory bowel disease and highlights a key mechanism of gut homeostasis Bằng Marianna Parlato, Fabienne Charbit‐Henrion, Jie Pan, Claudio Romano, Rémi Duclaux‐Loras, Marie‐Hélène Le Du, Neil Warner, Paola Francalanci, Julie Bruneau, Marc Bras, Mohammed Zarhrate, Bernadette Bègue, Nicolas Guégan, Sabine Rakotobé, Nathalie Kapel, Paola De Angelis, Anne M. Griffiths, Karoline Fiedler, Eileen Crowley, Frank M. Ruemmele, Aleixo M. Muise, Nadine Cerf‐Bensussan

    Được phát hành 2018
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    Artigo
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  7. 7
    Clinical manifestations, disease penetrance, and treatment in individuals with SOCS1 insufficiency: a registry-based and population-based study

    Clinical manifestations, disease penetrance, and treatment in individuals with SOCS1 insufficiency: a registry-based and population-based study Bằng Jérôme Hadjadj, Anna Franziska Wolfers, Oleg V. Borisov, Derek Hazard, Timothy Ronan Leahy, Marie Jeanpierre, Alexandre Bélot, Shahrzad Bakhtiar, Fabian Hauck, Pui Y. Lee, Stephano Volpi, Serena Palmeri, Vincent Barlogis, Nathalie Aladjidi, Georg Ebetsberger‐Dachs, Jérôme Avouac, Fabienne Charbit‐Henrion, Morgane Cheminant, Jean Donadieu, Sujal Ghosh, David P. Hoytema van Konijnenburg, Julia Körholz, Jacinta Bustamante, Jérémie Rosain, Lisa Forbes Satter, Ingrid Selmeryd, Georgios Sogkas, Bénédicte Neven, Frédéric Rieux‐Laucat, Stephan Ehl

    Được phát hành 2025
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    Artigo
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  8. 8
    Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study

    Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study Bằng Fabienne Charbit‐Henrion, Marianna Parlato, Sylvain Hanein, Rémi Duclaux‐Loras, Jan Krzysztof Nowak, Bernadette Bègue, Sabine Rakotobé, Julie Bruneau, Cécile Fourrage, Olivier Alibeu, Frédéric Rieux‐Laucat, E Lévy, Marie–Claude Stolzenberg, Fabienne Mazerolles, Sylvain Latour, Christelle Lenoir, Alain Fischer, Capucine Pïcard, Marina Aloi, Jorge Amil Dias, M. Ben Hariz, Anne Bourrier, Christian Breuer, Anne Breton, Jiri Bronsky, Stephan Buderus, Mara Cananzi, Stéphanie Coopman, Clara Crémilleux, A. Dabadie, Clémentine Dumant‐Forest, Ödül Eğritaş, Alexandre Fabre, Aude Fischer, Marta Díaz-Navarro, Yago González‐Lama, Olivier Goulet, Graziella Guariso, Neslihan Gurcan, Matjaž Homan, Jean‐Pierre Hugot, Éric Jeziorski, Evi Karanika, Alain Lachaux, Peter Lewindon, Rosa Lima, Fernando Magro, János Major, Georgia Malamut, Emmanuel Mas, István Máttyus, Luisa Mearin, Jan Melek, Víctor Manuel Navas‐López, Anders Pærregaard, C. Pélatan, Bénédicte Pigneur, Isabel Pinto Pais, Julie Rebeuh, Claudio Romano, Nadia Siala, Caterina Strisciuglio, Michela Tempia-Caliera, P. Tounian, Dan Turner, Vaidotas Urbonas, S. Willot, Frank M. Ruemmele, Nadine Cerf‐Bensussan

    Được phát hành 2018
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    Artigo
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  9. 9
    Inherited p40phox deficiency differs from classic chronic granulomatous disease

    Inherited p40phox deficiency differs from classic chronic granulomatous disease Bằng Annemarie van de Geer, Alejandro Nieto-Patlán, Douglas B. Kuhns, Anton T. J. Tool, Andrés A. Arias, Matthieu Bouaziz, Martin de Boer, José Luis Franco, Roel P. Gazendam, John L. van Hamme, Michel van Houdt, Karin van Leeuwen, Paul Verkuijlen, Timo K. van den Berg, Juan F. Álzate, Carlos A. Arango-Franco, Vritika Batura, Andrea Bernasconi, Barbara Boardman, Claire Booth, Siobhán O. Burns, Felipe Cabarcas, Nadine Cerf‐Bensussan, Fabienne Charbit‐Henrion, Anniek Corveleyn, Caroline Deswarte, María Esnaola Azcoiti, Dirk Foell, John I. Gallin, Carlos Garcés, Margarida Guedes, Claas Hinze, Steven M. Holland, Stephen Hughes, Patricio Ibáñez, Harry L. Malech, Isabelle Meyts, Marcela Moncada‐Vélez, Kunihiko Moriya, Esmeralda Neves, Matías Oleastro, Laura Pérez, Vimel Rattina, Carmen Oleaga‐Quintas, Neil Warner, Aleixo M. Muise, Jeanet Serafín‐López, Eunice Trindade, Júlia Vasconcelos, Séverine Vermeire, Helmut Wittkowski, Austen Worth, Laurent Abel, Mary C. Dinauer, Peter D. Arkwright, Dirk Roos, Jean‐Laurent Casanova, Taco W. Kuijpers, Jacinta Bustamante

    Được phát hành 2018
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    Artigo
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