Suchergebnisse - Chloé Angelini

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  1. 1
    Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant

    Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant von Chloé Angelini, Julien Van‐Gils, Antoine Bigourdan, Pierre‐Simon Jouk, Didier Lacombe, Patrice Ménégon, Sébastien Moutton, Florence Riant, Guilhem Solé, Elisabeth Tournier‐Lasserve, Aurélien Trimouille, Marie Vincent, Cyril Goizet

    Veröffentlicht 2018
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  2. 2
    CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients

    CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients von Marie Le Roux, Magalie Barth, Sophie Guéden, Patrick Desbordes de Cepoy, Alec Aeby, Catheline Vilain, Édouard Hirsch, Anne de Saint Martin, Vincent des Portes, Gaëtan Lesca, Audrey Riquet, Laurence Chaton, Nathalie Villeneuve, Laurent Villard, Claude Cancès, Luc Valton, Florence Renaldo, Anne‐Isabelle Vermersch, Cécilia Altuzarra, Marie-Ange Nguyen-Morel, Julien Van‐Gils, Chloé Angelini, Arnaud Biraben, Lionel Arnaud, Florence Riant, Patrick Van Bogaert

    Veröffentlicht 2021
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  3. 3
    PFMG2025–integrating genomic medicine into the national healthcare system in France

    PFMG2025–integrating genomic medicine into the national healthcare system in France von Caroline Abadie, Aldja Abderrahmane, Ouarda Abdous, Carine Abel, O. Ackermann, Cécile Acquaviva, Flavie Ader, Salma Adham, Dalila Adjaoud, Alexandra Afenjar, Nathalie Aladjidi, Anne‐Sophie Alary, F. Albarel, Sabrina Albert, Lise Allard, Ingrid Allix, Violaine Alunni, Inês F. Amado, Cyril Amouroux, Nicolas André, Chloé Angelini, Mathieu Anheim, Ignacio Antolin Sanfelliz, Thomas Aparicio, Chloé Arfeuille, J Arlet, Lionel Arnaud, Pauline Arnaud, Guilhem Arnold, Tania Attié‐Bitach, Marion Aubert‐Mucca, Isabelle Audo, Marie‐Pierre Audrézet, Maxime Auroux, Céline Auzanneau, Xavier Ayrignac, Ibrahima Ba, Anne Bachelot, Delphine Bacq, Séverine Bacrot, Brigitte Bader‐Meunier, Sarah Baer, Stéphanie Baert‐Desurmont, Laurence Bal-Theoleyre, Ralyath Balogoun, Philippe Baltzinger, Guillaume Banneau, Claire Bar, Audrey Barbet, Giulia Barcia, Laure Barjhoux, Anne Barlier, Vincent Barlogis, Marc Barritault, Magalie Barth, Aurore Barthod-Malat, Peggy Baudouin-Cornu, Geneviève Baujat, Amandine Baurand, Jacques‐Olivier Bay, Michèle Beau‐Faller, Jean-Christophe Beaudoin, Rémi Bellance, Christine Bellanné‐Chantelot, C. Bellera, Alexandre Bélot, Raihane Ben Abdeljelil, Rihab Ben Sghaier, Joy Benadiba, S Bénard, Claire Bénéteau, Karelle Bénistan, Fouzia Benkerdou, Mehdi Benkirane, Jean‐François Benoist, Patrick R. Benusiglio, Camille Bergès, Anne Bergougnoux, Maureen Bernadach, Emilien Bernard, Valérie Bernard, Virginie Bernard, Dounia Beroug, Aurélie Berrard, Jérôme Bertherat, Pascaline Berthet, Clotilde Berthier, Aurélia Bertholet‐Thomas, Jean‐Philippe Bertocchio, François Bertucci, Céline Besse, Elsa Besse-Pinot, D. Bessis, Pauline Beuvain, Stéphane Bézieau, Marie Bidart, Ivan Bièche, Margaux Biehler, Thierry Bienvenu, Frédéric Bilan

    Veröffentlicht 2025
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  4. 4
    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 von 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

    Veröffentlicht 2025
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