نتائج البحث - Arnaud Wiedemann

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  1. 1
    Vitamin D–Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?

    Vitamin D–Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition? حسب Arnaud Molin, Arnaud Wiedemann, Nick Demers, Martin Kaufmann, Jérémy Do Cao, Laurent Mainard, B. Dousset, P. Journeau, Geneviève Abéguilé, Nadia Coudray, Hervé Mittre, Nicolas Richard, G. Weryha, Arthur Sorlin, Glenville Jones, Marie‐Laure Kottler, François Feillet

    منشور في 2017
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    Artigo
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  2. 2
    Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome

    Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectode... حسب Thomas Besnard, Natacha Sloboda, Alice Goldenberg, Sébastien Küry, Benjamin Cogné, Flora Bréhéret, Eva Trochu, Solène Conrad, Marie Vincent, Wallid Deb, X. Balguérie, S. Barbarot, Geneviève Baujat, Tawfeg Ben‐Omran, A.‐C. Bursztejn, Virginie Carmignac, Alexandre Datta, A. Delignières, Laurence Faivre, Betty Gardie, Jean‐Louis Guéant, Paul Kuentz, Marion Lenglet, Marie‐Cécile Nassogne, V. Ramaekers, Rhonda E. Schnur, Yue Si, Erin Torti, Julien Thévenon, P. Vabres, Lionel Van Maldergem, Dorothea Wand, Arnaud Wiedemann, Bertrand Cariou, Richard Redon, Antonin Lamazière, Stéphane Bézieau, François Feillet, Bertrand Isidor

    منشور في 2019
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  3. 3
    Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients

    Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients حسب Christian Staufner, Bianca Peters, Matias Wagner, Seham Alameer, Ivo Barić, Pierre Broué, Fatma Derya Bulut, Joseph A. Church, Ellen Crushell, Buket Dalgıç, Anibh M. Das, Anke Dick, Nicola Dikow, Carlo Dionisi‐Vici, Felix Distelmaier, Neslihan Ekşi Bozbulut, François Feillet, Emmanuel Gonzalès, Nedim Hadžić, Fabian Hauck, Robert Hegarty, Maja Hempel, Theresia Herget, Christoph Klein, Vassiliki Konstantopoulou, Robert Kopajtich, Alice Kuster, Martin W. Laaß, Elke Lainka, Catherine Larson‐Nath, Alexander Leibner, Eberhard Lurz, Johannes A. Mayr, Patrick McKiernan, Karine Mention, Ute Moog, Neslihan Önenli Mungan, Korbinian M. Riedhammer, René Santer, Irene Valenzuela, Jerry Vockley, Dominik S. Westphal, Arnaud Wiedemann, Saskia B. Wortmann, Gaurav D. Diwan, Robert B. Russell, Holger Prokisch, Sven F. Garbade, Stefan Kölker, Georg F. Hoffmann, Dominic Lenz

    منشور في 2019
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  4. 4
    Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function

    Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function حسب Gillian Rice, Sehoon Park, Francesco Gavazzi, Laura Adang, Loveline A. Ayuk, Lien Van Eyck, Luís Seabra, Christophe Barrea, Roberta Battini, Alexandre Bélot, Stefan Berg, Thierry Billette de Villemeur, Annette Bley, Lubov Blumkin, Odile Boespflug‐Tanguy, Tracy A. Briggs, Elise Brimble, Russell C. Dale, Niklas Darín, François‐Guillaume Debray, Valentina De Giorgis, Jonas Denecke, Diane Doummar, Gunilla Drake af Hagelsrum, Despina Eleftheriou, Margherita Estienne, Elisa Fazzi, François Feillet, Jessica Galli, Nicholas Hartog, Julie Harvengt, Bénédicte Héron, Delphine Héron, D. Kelly, Dorit Lev, Virginie Levrat, John H. Livingston, Itxaso Martí, Cyril Mignot, Fanny Mochel, Marie‐Christine Nouguès, Ilena Oppermann, Belén Pérez‐Dueñas, Bernt Popp, Mathieu P. Rodero, Diana Rodriguez, Veronica Saletti, C. M. SHARPE, Davide Tonduti, Gayatri Vadlamani, Keith Van Haren, Miguel Tomás Vila, Julie Vogt, Evangeline Wassmer, Arnaud Wiedemann, Callum Wilson, Ayelet Zerem, Christiane Zweier, Sameer M. Zuberi, Simona Orcesi, Adeline Vanderver, Sun Hur, Yanick J. Crow

    منشور في 2020
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  5. 5
    Association of Intravenous Immunoglobulins Plus Methylprednisolone vs Immunoglobulins Alone With Course of Fever in Multisystem Inflammatory Syndrome in Children

    Association of Intravenous Immunoglobulins Plus Methylprednisolone vs Immunoglobulins Alone With Course of Fever in Multisystem Inflammatory Syndrome in Children حسب Naïm Ouldali, Julie Toubiana, Denise Antona, Étienne Javouhey, Fouad Madhi, Mathie Lorrot, Pierre-Louis Léger, Caroline Galeotti, Caroline Claude, Arnaud Wiedemann, Noémie Lachaume, Caroline Ovaert, Morgane Dumortier, Jean‐Emmanuel Kahn, Alexis Mandelcwajg, Lucas Percheron, Blandine Biot, Jeanne Bordet, Marie‐Laure Girardin, David Dawei Yang, Marion Grimaud, Mehdi Oualha, Slimane Allali, Fanny Bajolle, Constance Beyler, Ulrich Meinzer, Michaël Levy, Ana-Maria Paulet, Yaël Levy, Robert Cohen, Alexandre Bélot, François Angoulvant, Cinthia Rames, A. Donzeau, Sophie Léty, Cristian Fedorczuk, Marion Lajus, Philippe Bensaïd, Yacine Laoudi, Charlotte Pons, Camille Beaucourt, Loïc de Pontual, Camille Aupiais, Alain Lefèvre‐Utile, Muriel Richard, Etienne Goisque, Xavier Iriart, Olivier Brissaud, Marion Bailhache, Pierre Segretin, Julie Molimard, Marie-Clothilde Orcel, Grégoire Benoist, Elsa Amouyal, Margaux Guerder, Robin Pouyau, Jean-Marie De Guillebon De Resnes, Ellia Mezgueldi, Fleur Cour‐Andlauer, Côme Horvat, Pierre Poinsot, Cécile Frachette, Antoine Ouziel, Yves Gillet, Catherine Barrey, Jacques Brouard, Caroline Faucon, Henri Giniès, Vathanaksambath Ro, Narcisse Elanga, Vincent Gajdos, Romain Basmaci, Névéna Danékova, Hadile Mutar, Sébastien Rouget, Xavier Torterüe, Elodie Nattes, Isabelle Hau, Sandra Biscardi, Houmam El Jurdi, Camille Jung, Ralph Epaud, Céline Delestrain, Adèle Carlier‐Gonod, Camille Chavy, Benoît Colomb, Stéphanie Litzler-Renault, Denis S. Semama, Frédéric Huet, Mayssa Sarakbi, Guillaume Mortamet, C. Bost-Bru, Charlotte Kevorkian‐Verguet, Matthias Lachaud, Caroline Vinit, V. Hentgen, Pascal Leroux, Valérie Bertrand, Caroline Parrod, Irina Craiu

    منشور في 2021
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