Výsledky vyhledávání - Monique Elmaleh

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  1. 1
    Diffusion‐weighted magnetic resonance imaging of the fetal brain in intrauterine growth restriction

    Diffusion‐weighted magnetic resonance imaging of the fetal brain in intrauterine growth restriction Autor Owen J. Arthurs, A. Rega, Fabien Guimiot, N. Belarbi, Jonathan Rosenblatt, Valérie Biran, Monique Elmaleh, G. Sebag, Marianne Alison

    Vydáno 2016
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  2. 2
    Spectrum of Temporal Bone Abnormalities in Patients with Waardenburg Syndrome and<i>SOX10</i>Mutations

    Spectrum of Temporal Bone Abnormalities in Patients with Waardenburg Syndrome and<i>SOX10</i>Mutations Autor Monique Elmaleh, Clarisse Baumann, N. Noël‐Pétroff, A. Sekkal, V. Couloigner, Koenraad Devriendt, Meredith Wilson, Sandrine Marlin, G. Sebag, Véronique Pingault

    Vydáno 2012
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  3. 3
    Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1

    Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1 Autor Imen Dorboz, Marie Coutelier, A. Bertrand, Jean‐Hubert Caberg, Monique Elmaleh, Jeanne Lainé, Giovanni Stévanin, Gisèle Bonne, Odile Boespflug‐Tanguy, Laurent Servais

    Vydáno 2014
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  4. 4
    Acute Neurological Involvement in Diarrhea-Associated Hemolytic Uremic Syndrome

    Acute Neurological Involvement in Diarrhea-Associated Hemolytic Uremic Syndrome Autor Sylvie Nathanson, Thérèsa Kwon, Monique Elmaleh, Marina Charbit, Emma Allain Launay, Jérôme Harambat, Muriel Brun, Bruno Ranchin, Isabel Bandı́n, Sylvie Cloarec, Guylhène Bourdat-Michel, Christine Piétrement, Gérard Champion, Tim Ulinski, Georges Deschênes

    Vydáno 2010
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  5. 5
    Mutation in <i>POLR3K</i> causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation

    Mutation in <i>POLR3K</i> causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation Autor Imen Dorboz, Hélène Dumay‐Odelot, K. Boussaid, Yosra Bouyacoub, Pauline Barreau, Simon Samaan, Haifa Jmel, Eléonore Eymard‐Pierre, Claude Cancès, Céline Bar, Anne‐Lise Poulat, Christophe Rousselle, Florence Renaldo, Monique Elmaleh- Bergès, Martin Teichmann, Odile Boespflug‐Tanguy

    Vydáno 2018
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  6. 6
    QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease

    QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease Autor Virgínia Guarani, Claude Jardel, Dominique Chrétien, Anne Lombès, Paule Bénit, C. Labasse, Emmanuelle Lacène, Agnès Bourillon, Apolline Imbard, Jean‐François Benoist, Imen Dorboz, Martine Gilleron, Eric S. Goetzman, Pauline Gaignard, Abdelhamid Slama, Monique Elmaleh, Norma B. Romero, Pierre Rustin, Hélène Ogier de Baulny, João A. Paulo, J. Wade Harper, Manuel Schiff

    Vydáno 2016
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  7. 7
    Insights from an autism imaging biomarker challenge: Promises and threats to biomarker discovery

    Insights from an autism imaging biomarker challenge: Promises and threats to biomarker discovery Autor Nicolas Traut, Katja Heuer, G Lemaître, Anita Beggiato, David Germanaud, Monique Elmaleh, Alban Bethegnies, Laurent Bonnasse‐Gahot, Wei Cai, Stanislas Chambon, Freddy Cliquet, Ayoub Ghriss, Nicolas Guigui, Amicie de Pierrefeu, Meng Wang, Valentina Zantedeschi, A. Boucaud, Joris Van den Bossche, Balázs Kégl, Richard Delorme, Thomas Bourgeron, Roberto Toro, Gaël Varoquaux

    Vydáno 2022
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  8. 8
    Association of Matched Sibling Donor Hematopoietic Stem Cell Transplantation With Transcranial Doppler Velocities in Children With Sickle Cell Anemia

    Association of Matched Sibling Donor Hematopoietic Stem Cell Transplantation With Transcranial Doppler Velocities in Children With Sickle Cell Anemia Autor Françoise Bernaudin, Suzanne Verlhac, Régis Peffault de Latour, Jean‐Hugues Dalle, Valentine Brousse, Eléonore Petras, Isabelle Thuret, Catherine Paillard, Bénédicte Neven, Claire Galambrun, Lydia Divialle‐Doumdo, Corinne Pondarré, Corinne Guitton, Florence Missud, Camille Runel, Charlotte Jubert, Gisèle Elana, Elisabeth Ducros-Miralles, Élise Drain, Olivier Taïeb, Cécile Arnaud, Annie Kamdem, Aurore Malric, Monique Elmaleh, Manuela Vasile, Emmanuella Leveillé, Gèrard Socié, Sylvie Chevret

    Vydáno 2019
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  9. 9
    Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus

    Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus Autor Matias Wagner, Jonathan Lévy, Sabine Jung‐Klawitter, Somayeh Bakhtiari, Fabíola Paoli Monteiro, Reza Maroofian, Tatjana Bierhals, Maja Hempel, Monique Elmaleh, João Paulo Kitajima, Chong Ae Kim, Júlia Salomão, David J. Amor, Monica S. Cooper, Laurence Perrin, Eva Pipiras, Axel Neu, Mohammad Doosti, Ehsan Ghayoor Karimiani, Mehran Beiraghi Toosi, Henry Houlden, Sheng Chih Jin, Yue C., Lance H. Rodan, Hanka Venselaar, Michael C. Kruer, Fernando Kok, Georg F. Hoffmann, Tim M. Strom, Saskia B. Wortmann, Anne-Claude Tabet, Thomas Opladen

    Vydáno 2020
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  10. 10
    Autosomal recessive primary microcephaly due to <i>ASPM</i> mutations: An update

    Autosomal recessive primary microcephaly due to <i>ASPM</i> mutations: An update Autor Pascaline Létard, Séverine Drunat, Yoann Vial, Sarah Duerinckx, Anais Ernault, Daniel Amram, Stéphanie Arpin, Marta Bértoli, Tiffany Busa, Berten Ceulemans, Julie Désir, Martine Doco‐Fenzy, Siham Chafai Elalaoui, Koenraad Devriendt, Laurence Faivre, Christine Francannet, David Geneviève, Marion Gérard, Cyril Gitiaux, Sophie Julia, Sébastien Lebon, Toni Kasole Lubala, Michèle Mathieu‐Dramard, Hélène Maurey, Julia Métreau, Sanaa Nasserereddine, Mathilde Nizon, Geneviève Pierquin, Nathalie Pouvreau, Clothilde Rivier-Ringenbach, Massimiliano Rossi, Élise Schaefer, Abdelaziz Sefiani, Sabine Sigaudy, Yves Sznajer, Yusuf Tunca, Sophie Guilmin‐Crépon, Corinne Alberti, Monique Elmaleh, Brigitte Benzacken, Bernd Wollnick, C. Geoffrey Woods, Anita Rauch, Marc Abramowicz, Vincent El Ghouzzi, Pierre Gressèns, Alain Verloès, Sandrine Passemard

    Vydáno 2017
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  11. 11
    Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol)

    Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol) Autor Elodie Fiot, Bertille Alauze, Bruno Donadille, Dinane Samara‐Boustani, Muriel Houang, Gianpaolo De Filippo, Anne Bachelot, Clémence Delcour, Constance Beyler, E. Bois, E. Bourrat, E. Bui Quoc, Nathalie Bourcigaux, Catherine Chaussain, Ariel Cohen, Martine Cohen‐Solal, Sabrina Corrêa da Costa, Claire Dossier, Stéphane Éderhy, Monique Elmaleh, Laurence Iserin, Hélène Lengline, Armelle Poujol‐Robert, Dominique Roulot, Jérôme Viala, F. Albarel, Élise Bismuth, Valérie Bernard, Claire Bouvattier, Aude Brac, Patricia Bretones, Nathalie Chabbert‐Buffet, Philippe Chanson, R. Coutant, Marguerite de Warren, Béatrice Demaret, Lise Duranteau, Florence Eustache, Lydie Gautheret, Georges Gelwane, Claire Gourbesville, M. Grynberg, Karinne Gueniche, Carina Jorgensen, V. Kerlan, Charlotte Lebrun, Christine Lefèvre, F. Lorenzini, Sylvie Manouvrier, Catherine Pienkowski, Rachel Reynaud, Yves Reznik, Jean‐Pierre Siffroi, Anne‐Claude Tabet, Maïthé Tauber, V. Vautier, Igor Tauveron, Sebastien Wambre, Delphine Zénaty, Irène Netchine, Michel Polak, Philippe Touraine, Jean‐Claude Carel, Sophie Christin‐Maître, Juliane Léger

    Vydáno 2022
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  12. 12
    Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

    Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption Autor Caroline Nava, Benjamin Cogné, A. Santini, Elsa Leitão, François Lecoquierre, Yuyang Chen, Sarah L. Stenton, Thomas Besnard, Solveig Heide, Sarah Baer, Abhilasha Jakhar, Sonja Neuser, Boris Keren, Anne Faudet, Sylvie Forlani, Marie Faoucher, Kévin Uguen, Konrad Platzer, Alexandra Afenjar, Jean‐Luc Alessandri, Stephanie Andres, Chloé Angelini, Bernard Aral, Benoı̂t Arveiler, Tania Attié‐Bitach, Marion Aubert‐Mucca, Guillaume Banneau, Tahsin Stefan Barakat, Giulia Barcia, Stéphanie Baulac, Claire Bénéteau, Fouzia Benkerdou, Virginie Bernard, Stéphane Bézieau, Dominique Bonneau, Marie-Noelle Bonnet-Dupeyron, Simon Boussion, Odile Boute, Elise Brischoux‐Boucher, Samantha J. Bryen, Julien Buratti, Tiffany Busa, Almuth Caliebe, Yline Capri, Kévin Cassinari, Roseline Caumes, Camille Cenni, Pascal Chambon, Perrine Charles, John Christodoulou, Cindy Colson, Solène Conrad, Auriane Cospain, Juliette Coursimault, Thomas Courtin, Madeline Couse, Charles Coutton, Isabelle Creveaux, Alissa M. D’Gama, Benjamin Dauriat, Jean‐Madeleine de Sainte Agathe, Giulia Gobbo, Andrée Delahaye‐Duriez, Julian Delanne, Anne‐Sophie Denommé‐Pichon, Anne Dieux‐Coëslier, Laura Do Souto Ferreira, Martine Doco‐Fenzy, Stephan Drukewitz, Véronique Duboc, Christèle Dubourg, Yannis Duffourd, David A. Dyment, Salima El Chehadeh, Monique Elmaleh, Laurence Faivre, Samuel Fennelly, Hilde Fischer, Mélanie Fradin, Cédric Vaillant, Benjamin Ganne, Jamal Ghoumid, Himanshu Goel, Zeynep Gokce‐Samar, Alice Goldenberg, R. Robert, Svetlana Gorokhova, Louise Goujon, Victoria Granier, Mathilde Gras, John M. Greally, Bianca Greiten, Paul Gueguen, Anne‐Marie Guerrot, Saurav Guha, Anne Guimier, Tobias B. Haack, Hamza Hadj Abdallah, Yosra Halleb, Radu Harbuz

    Vydáno 2025
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