Zoekresultaten - Chantal Missirian

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  1. 1
    Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype

    Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype door Pierre Cacciagli, Marie-Reine Haddad, Cécile Mignon‐Ravix, Bilal El Waly, Anne Moncla, Chantal Missirian, B. Chabrol, Laurent Villard

    Gepubliceerd in 2010
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  2. 2
    A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotype

    A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotype door Anne Moncla, Chantal Missirian, Pierre Cacciagli, Eve Balzamo, Laurence Legeai‐Mallet, Jean-Luc Jouve, B. Chabrol, Martine Le Merrer, Ghislaine Plessis, Laurent Villard, Nicole Philip

    Gepubliceerd in 2007
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  3. 3
    Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome

    Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome door Alexandre Fabre, Christine Martinez‐Vinson, Bertrand Roquelaure, Chantal Missirian, Nicolás André, Anne Breton, Alain Lachaux, Ödül Eğritaş, V. Colomb, Julie Lemale, Jean‐Pierre Cézard, Olivier Goulet, Jacques Sarles, Nicolas Lévy, Catherine Badens

    Gepubliceerd in 2010
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  4. 4
    Multi-modal refinement of the human heart atlas during the first gestational trimester

    Multi-modal refinement of the human heart atlas during the first gestational trimester door Christopher De Bono, Yichi Xu, Samina Kausar, Marine Herbane, Camille Humbert, Sevda Rafatov, Chantal Missirian, Mathias Moreno, Weiyang Shi, Yorick Gitton, Alberto Lombardini, Ivo Vanzetta, Séverine Mazaud‐Guittot, Alain Chédotal, Anaı̈s Baudot, Stéphane Zaffran, Heather Etchevers

    Gepubliceerd in 2025
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  5. 5
    Regulatory variants of FOXG1 in the context of its topological domain organisation

    Regulatory variants of FOXG1 in the context of its topological domain organisation door Mana M. Mehrjouy, Ana Carolina Fonseca, Nadja Ehmke, Giorgio Adriano Paskulin, Antonio Novelli, Francesco Benedicenti, Maria Antonietta Mencarelli, Alessandra Renieri, Tiffany Busa, Chantal Missirian, Claus Hansen, Kikue Terada Abe, Carlos E. Speck‐Martins, Angela Maria Vianna‐Morgante, Mads Bak, Niels Tommerup

    Gepubliceerd in 2017
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  6. 6
    <i>TCF4</i>Deletions in Pitt-Hopkins Syndrome

    <i>TCF4</i>Deletions in Pitt-Hopkins Syndrome door Irina Giurgea, Chantal Missirian, Pierre Cacciagli, Sandra Whalen, Tessa Fredriksen, Thierry Gaillon, Julia Rankin, Michèle Mathieu‐Dramard, G Morin, Dominique Martin–Coignard, Christèle Dubourg, B. Chabrol, Jacqueline Arfi, Fabienne Giuliano, Jean Claude Lambert, Nicole Philip, Pierre Sarda, Laurent Villard, Michel Goossens, Anne Moncla

    Gepubliceerd in 2008
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  7. 7
    Diagnostic yield of chromosomal microarray analysis in fetuses with isolated increased nuchal translucency: a French multicenter study

    Diagnostic yield of chromosomal microarray analysis in fetuses with isolated increased nuchal translucency: a French multicenter study door Matthieu Egloff, Bérenice Herve, T. Quibel, Sylvie Jaillard, G. Le Bouar, Kévin Uguen, A.‐H. Saliou, Mylène Valduga, E. Perdriolle, Charles Coutton, Anne-Laure Coston, Aurélie Coussement, Olivia Anselem, Chantal Missirian, Florence Bretelle, Fabienne Prieur, C. Fanget, Christine Muti, M.‐C. Jacquemot, Claire Bénéteau, Claudine Le Vaillant, Michel Vekemans, Laurent Salomon, François Vialard, Valérie Malan

    Gepubliceerd in 2017
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  8. 8
    Epileptic patients with de novo <i><scp>STXBP</scp>1</i> mutations: Key clinical features based on 24 cases

    Epileptic patients with de novo <i><scp>STXBP</scp>1</i> mutations: Key clinical features based on 24 cases door Chloé Di Meglio, Gaëtan Lesca, Nathalie Villeneuve, Caroline Lacoste, Affef Abidi, Pierre Cacciagli, Cécilia Altuzarra, Agathe Roubertie, Alexandra Afenjar, Florence Renaldo‐Robin, Bertrand Isidor, Agnès Gautier, Marie Husson, Claude Cancès, Julia Métreau, Cécile Laroche, Mondher Chouchane, Dorothée Ville, Stéphanie Marignier, Christelle Rougeot, Marine Lebrun, Anne de Saint Martin, Alexandra Perez, Audrey Riquet, Catherine Badens, Chantal Missirian, Nicole Philip, B. Chabrol, Laurent Villard, Mathieu Milh

    Gepubliceerd in 2015
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  9. 9
    SMCHD1 is involved in<i>de novo</i>methylation of the<i>DUX4</i>-encoding D4Z4 macrosatellite

    SMCHD1 is involved in<i>de novo</i>methylation of the<i>DUX4</i>-encoding D4Z4 macrosatellite door Camille Dion, Stéphane Roche, Camille Laberthonnìère, Natacha Broucqsault, Virginie Mariot, Shifeng Xue, Alexandra D. Gurzau, Agnieszka Nowak, Christopher T. Gordon, Marie-Cécile Gaillard, Claire El-Yazidi, Morgane Thomas, Andrée Schlupp-Robaglia, Chantal Missirian, Valérie Malan, Liham Ratbi, Abdelaziz Sefiani, Bernd Wollnik, Bernard Binétruy, Emmanuelle Salort Campana, Shahram Attarian, Rafaëlle Bernard, Karine Nguyen, Jeanne Amiel, Julie Dumonceaux, James M. Murphy, Jérôme Déjardin, Marnie E. Blewitt, Bruno Reversade, Jérôme D. Robin, Frédérique Magdinier

    Gepubliceerd in 2019
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  10. 10
    Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases

    Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases door Quentin Testard, Xavier Vanhoye, Kévin Yauy, Marie-Emmanuelle Naud, Gaëlle Vieville, Francis Rousseau, Benjamin Dauriat, Valentine Marquet, Sylvie Bourthoumieu, David Geneviève, Vincent Gâtinois, Constance Wells, Marjolaine Willems, Christine Coubes, Lucile Pinson, Rodolphe Dard, Aude Tessier, Bérenice Herve, François Vialard, Inès Harzallah, Renaud Touraine, Benjamin Cogné, Wallid Deb, Thomas Besnard, Olivier Pichon, Béatrice Laudier, Laurent Mesnard, Alice Doreille, Tiffany Busa, Chantal Missirian, Véronique Satre, Charles Coutton, Tristan Celse, Radu Harbuz, Laure Raymond, Jean-François Taly, Julien Thévenon

    Gepubliceerd in 2022
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  11. 11
    A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH

    A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH door Céline Poirsier, Justine Besseau-Ayasse, Caroline Schluth–Bolard, Jérôme Toutain, Chantal Missirian, Cédric Le Caignec, Anne Bazin, Marie Christine de Blois, Paul Kuentz, Marie Catty, Agnès Choiset, Ghislaine Plessis, Audrey Basinko, Pascaline Létard, Elisabeth Flori, Mélanie Jimenez, Mylène Valduga, Emilie Landais, Hakima Lallaoui, François Cartault, James Lespinasse, Dominique Martin–Coignard, Patrick Callier, Céline Pebrel‐Richard, Marie-France Portnoı̈, Tiffany Busa, Aline Receveur, Florence Amblard, Catherine Yardin, Radu Harbuz, Fabienne Prieur, Nathalie Le Meur, Eva Pipiras, Pascale Kleinfinger, François Vialard, Martine Doco‐Fenzy

    Gepubliceerd in 2015
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  12. 12
    A framework to identify contributing genes in patients with Phelan-McDermid syndrome

    A framework to identify contributing genes in patients with Phelan-McDermid syndrome door Anne‐Claude Tabet, Thomas Rolland, Marie Ducloy, Jonathan Lévy, Julien Buratti, Alexandre Mathieu, Damien Haye, Laurence Perrin, Céline Dupont, Sandrine Passemard, Yline Capri, Alain Verloès, Séverine Drunat, Boris Keren, Cyril Mignot, Isabelle Marey, Aurélia Jacquette, Sandra Whalen, Eva Pipiras, Brigitte Benzacken, Sandra Chantot‐Bastaraud, Alexandra Afenjar, Delphine Héron, Cédric Le Caignec, Claire Bénéteau, Olivier Pichon, Bertrand Isidor, Albert David, Laïla El Khattabi, Stéphan Kemeny, Laëtitia Gouas, Philippe Vago, Anne‐Laure Mosca‐Boidron, Laurence Faivre, Chantal Missirian, Nicole Philip, Damien Sanlaville, Patrick Edery, Véronique Satre, Charles Coutton, Françoise Devillard, Klaus Dieterich, Marie‐Laure Vuillaume, Caroline Rooryck, Didier Lacombe, Lucile Pinson, Vincent Gâtinois, Jacques Puechberty, Jean Chiésa, James Lespinasse, Christèle Dubourg, Chloé Quēlin, Mélanie Fradin, Hubert Journel, Annick Toutain, Dominique Martin, Abdelamdjid Benmansour, Claire S. Leblond, Roberto Toro, Frédérique Amsellem, Richard Delorme, Thomas Bourgeron

    Gepubliceerd in 2017
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  13. 13
    Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

    Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders door Caroline Schluth–Bolard, Flavie Diguet, Nicolas Chatron, Pierre‐Antoine Rollat‐Farnier, Claire Bardel, Alexandra Afenjar, Florence Amblard, Jeanne Amiel, Sophie Blesson, Patrick Callier, Yline Capri, Patrick Collignon, Marie‐Pierre Cordier, Christine Coubes, Bénédicte Demeer, Annabelle Chaussenot, Florence Démurger, Françoise Devillard, Martine Doco‐Fenzy, Céline Dupont, Jean‐Michel Dupont, Sophie Dupuis‐Girod, Laurence Faivre, Brigitte Gilbert‐Dussardier, Anne‐Marie Guerrot, Marine Houlier, Bertrand Isidor, Sylvie Jaillard, Géraldine Joly‐Helas, Valérie Kremer, Didier Lacombe, Cédric Le Caignec, Aziza Lebbar, Marine Lebrun, Gaëtan Lesca, James Lespinasse, Jonathan Lévy, Valérie Malan, Michèle Mathieu‐Dramard, Julie Masson, Alice Masurel‐Paulet, Cyril Mignot, Chantal Missirian, Fanny Morice‐Picard, Sébastien Moutton, Gwenaël Nadeau, Céline Pebrel‐Richard, Sylvie Odent, Véronique Paquis‐Flucklinger, Laurent Pasquier, Nicole Philip, Morgane Plutino, Linda Pons, Marie‐France Portnoï, Fabienne Prieur, Jacques Puechberty, Audrey Putoux, Marlène Rio, Caroline Rooryck, Massimiliano Rossi, Catherine Sarret, Véronique Satre, Jean‐Pierre Siffroi, Marianne Till, Renaud Touraine, Annick Toutain, Jérôme Toutain, Stéphanie Valence, Alain Verloès, Sandra Whalen, Patrick Edery, Anne‐Claude Tabet, Damien Sanlaville

    Gepubliceerd in 2019
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  14. 14
    Germline AGO2 mutations impair RNA interference and human neurological development

    Germline AGO2 mutations impair RNA interference and human neurological development door Davor Lessel, Daniela M. Zeitler, Margot R.F. Reijnders, Andriy Kazantsev, Fatemeh Hassani Nia, Alexander Bartholomäus, Victoria Martens, Astrid Bruckmann, Veronika Graus, Allyn McConkie‐Rosell, Marie McDonald, Bernarda Lozić, Ee‐Shien Tan, Erica H. Gerkes, Jessika Johannsen, Jonas Denecke, Aida Telegrafi, Evelien Zonneveld‐Huijssoon, Henny H. Lemmink, Breana Cham, Tanja Kovačević, Linda Ramsdell, Kimberly Foss, Diana Le Duc, Diana Mitter, Steffen Syrbe, Andreas Merkenschlager, Margje Sinnema, Bianca Panis, Joanna Lazier, Matthew Osmond, Taila Hartley, Jérémie Mortreux, Tiffany Busa, Chantal Missirian, Pankaj Prasun, Sabine Lüttgen, Ilaria Mannucci, Ivana Lessel, Claudia Schob, Stefan Kindler, John Pappas, Rachel Rabin, Marjolein H. Willemsen, Thatjana Gardeitchik, Katharina Löhner, Patrick Rump, Kerith‐Rae Dias, Carey‐Anne Evans, P. Ian Andrews, Tony Roscioli, Han G. Brunner, Chieko Chijiwa, M. E. Suzanne Lewis, Rami Abou Jamra, David A. Dyment, Kym M. Boycott, Alexander P.A. Stegmann, Christian Kubisch, Ene‐Choo Tan, Ghayda Mirzaa, Kirsty McWalter, Tjitske Kleefstra, Rolph Pfundt, Zoya Ignatova, Gunter Meister, Hans‐Jürgen Kreienkamp

    Gepubliceerd in 2020
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  15. 15
    Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

    Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway door Justyna A. Karolak, Marie Vincent, Gail Deutsch, Tomasz Gambin, Benjamin Cogné, Olivier Pichon, Francesco Vetrini, Heather C. Mefford, Jennifer N. Dines, Katie Golden‐Grant, Katrina M. Dipple, Amanda S. Freed, Kathleen A. Leppig, Megan K. Dishop, David Mowat, Bruce Bennetts, Andrew J. Gifford, Martin Weber, Anna F. Lee, Cornelius F. Boerkoel, Tina M. Bartell, Catherine Ward‐Melver, Thomas Besnard, Florence Petit, Iben Bache, Zeynep Tümer, Marie Denis-Musquer, Madeleine Joubert, Jéléna Martinovic, Claire Bénéteau, Arnaud Molin, Dominique Carles, Gwenaëlle André, Éric Bieth, Nicolas Chassaing, Louise Devisme, Lara Chalabreysse, Laurent Pasquier, Véronique Secq, Massimiliano Don, Maria ­Orsaria, Chantal Missirian, Jérémie Mortreux, Damien Sanlaville, Linda Pons, Sébastien Küry, Stéphane Bézieau, Jean-Michel Liet, Nicolas Joram, Tiphaine Bihouée, Daryl A. Scott, Chester Brown, Fernando Scaglia, Anne Chun-Hui Tsai, Dorothy K. Grange, John A. Phillips, Jean P. Pfotenhauer, Shalini N. Jhangiani, Claudia Gonzaga‐Jauregui, Wendy K. Chung, Galen M. Schauer, Mark Lipson, Catherine L. Mercer, Arie van Haeringen, Qian Liu, Edwina J. Popek, Zeynep H. Coban Akdemir, James R. Lupski, Przemysław Szafrański, Bertrand Isidor, Cédric Le Caignec, Paweł Stankiewicz

    Gepubliceerd in 2019
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  16. 16
    Further delineation of the<i>MECP2</i>duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features

    Further delineation of the<i>MECP2</i>duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features door Marguerite Miguet, Laurence Faivre, Jeanne Amiel, Mathilde Nizon, Renaud Touraine, Fabienne Prieur, Laurent Pasquier, Mathilde Lefebvre, Julien Thévenon, Christèle Dubourg, Sophie Julia, Catherine Sarret, Ganaëlle Remérand, Christine Francannet, Fanny Laffargue, Odile Boespflug‐Tanguy, Albert David, Bertrand Isidor, Jacqueline Vigneron, Bruno Leheup, Laëtitia Lambert, Christophe Philippe, Mylène Béri‐Dexheimer, Jean‐Marie Cuisset, Joris Andrieux, Ghislaine Plessis, Annick Toutain, Laurent Guibaud, Valérie Cormier‐Daire, Marlène Rio, Jean‐Paul Bonnefont, Bernard Échenne, Hubert Journel, Lydie Bürglen, Sandra Chantot‐Bastaraud, Thierry Bienvenu, Clarisse Baumann, Laurence Perrin, Séverine Drunat, Pierre‐Simon Jouk, Klaus Dieterich, Françoise Devillard, Didier Lacombe, Nicole Philip, Sabine Sigaudy, Anne Moncla, Chantal Missirian, Catherine Badens, Nathalie Perreton, Christel Thauvin‐Robinet, Réseau AChro-Puce, Jean‐Michel Pédespan, Caroline Rooryck, Cyril Goizet, Catherine Vincent‐Delorme, Bénédicte Duban‐Bedu, Nadia Bahi‐Buisson, Alexandra Afenjar, Kim Maincent, Delphine Héron, Jean‐Luc Alessandri, Dominique Martin–Coignard, Gaëtan Lesca, Massimiliano Rossi, Martine Raynaud, Patrick Callier, Anne‐Laure Mosca‐Boidron, Nathalie Marle, Charles Coutton, Véronique Satre, Cédric Le Caignec, Valérie Malan, Serge Romana, Boris Keren, Anne‐Claude Tabet, Valérie Kremer, Sophie Scheidecker, Adeline Vigouroux, Marilyn Lackmy-Port-Lis, Damien Sanlaville, Marianne Till, Maryline Carneiro, Brigitte Gilbert‐Dussardier, Marjolaine Willems, Hilde Van Esch, Vincent des Portes, Salima El Chehadeh

    Gepubliceerd in 2018
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  17. 17
    Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study

    Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study door Sandra Martin-Brevet, Borja Rodríguez‐Herreros, Jared A. Nielsen, Clara Moreau, Claudia Modenato, Anne Maillard, Aurélie Pain, Sonia Richetin, Aia Elise Jønch, Abid Qureshi, Nicole R. Zürcher, Philippe Conus, Wendy K. Chung, Elliott H. Sherr, John E. Spiro, Ferath Kherif, J. Beckmann, Nouchine Hadjikhani, Alexandre Reymond, Randy L. Buckner, Bogdan Draganski, Sébastien Jacquemont, Marie‐Claude Addor, Joris Andrieux, Benoı̂t Arveiler, Geneviève Baujat, Frédérique Sloan‐Béna, Marco Belfiore, Dominique Bonneau, Sonia Bouquillon, Odile Boute, Alfredo Brusco, Tiffany Busa, Jean‐Hubert Caberg, Dominique Campion, Vanessa Colombert, Marie‐Pierre Cordier, Albert David, François‐Guillaume Debray, Marie‐Ange Delrue, Martine Doco‐Fenzy, Ulrike Dunkhase‐Heinl, Patrick Edery, Christina Fagerberg, Laurence Faivre, Francesca Forzano, David Geneviève, Marion Gérard, Daniela Giachino, Agnès Guichet, Olivier Guillin, Delphine Héron, Bertrand Isidor, Aurélia Jacquette, Sylvie Jaillard, Hubert Journel, Boris Keren, Didier Lacombe, Sébastien Lebon, Cédric Le Caignec, M. Lemaître, James Lespinasse, Michèle Mathieu-Dramart, Sandra Mercier, Cyril Mignot, Chantal Missirian, Florence Petit, Kristina P. Sørensen, Lucile Pinson, Ghislaine Plessis, Fabienne Prieur, Caroline Rooryck, Massimiliano Rossi, Damien Sanlaville, Britta Schlott Kristiansen, Caroline Schluth–Bolard, Marianne Till, Mieke M. van Haelst, Lionel Van Maldergem, Hanalore Alupay, Benjamin Aaronson, Sean Ackerman, Katy Ankenman, Ayesha Anwar, Constance Atwell, Alexandra Bowe, Arthur L. Beaudet, Marta Benedetti, Jessica Berg, Jeffrey Berman, Leandra N. Berry, Audrey Bibb, Lisa Blaskey, Jonathan Brennan, Christie M. Brewton, Randy L. Buckner, Polina Bukshpun, Jordan Burko, Phil Cali, Bettina M. Cerban

    Gepubliceerd in 2018
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  18. 18
    Effects of eight neuropsychiatric copy number variants on human brain structure

    Effects of eight neuropsychiatric copy number variants on human brain structure door Claudia Modenato, Kuldeep Kumar, Clara Moreau, Sandra Martin‐Brevet, Guillaume Huguet, Catherine Schramm, Martineau Jean‐Louis, Charles-Olivier Martin, Nadine Younis, Petra Tamer, Élise Douard, Fanny Thébault‐Dagher, Valérie Côté, Audrey-Rose Charlebois, Florence Deguire, Anne Maillard, Borja Rodríguez‐Herreros, Aurélie Pain, Sonia Richetin, Marie‐Claude Addor, Joris Andrieux, Benoı̂t Arveiler, Geneviève Baujat, Frédérique Sloan‐Béna, Marco Belfiore, Dominique Bonneau, Sonia Bouquillon, Odile Boute, Alfredo Brusco, Tiffany Busa, Jean- Hubert Caberg, Dominique Campion, Vanessa Colombert, Marie‐Pierre Cordier, Albert David, François‐Guillaume Debray, Marie‐Ange Delrue, Martine Doco‐Fenzy, Ulrike Dunkhase‐Heinl, Patrick Edery, Christina Fagerberg, Laurence Faivre, Francesca Forzano, David Geneviève, Marion Gérard, Daniela Giachino, Agnès Guichet, Olivier Guillin, Delphine Héron, Bertrand Isidor, Aurélia Jacquette, Sylvie Jaillard, Hubert Journel, Boris Keren, Didier Lacombe, Sébastien Lebon, Cédric Le Caignec, M. Lemaître, James Lespinasse, Michèle Mathieu-Dramart, Sandra Mercier, Cyril Mignot, Chantal Missirian, Florence Petit, Kristina P. Sørensen, Lucile Pinson, Ghislaine Plessis, Fabienne Prieur, Alexandre Raymond, Caroline Rooryck, Massimiliano Rossi, Damien Sanlaville, Britta Schlott Kristiansen, Caroline Schluth–Bolard, Marianne Till, Mieke M. van Haelst, Lionel Van Maldergem, Hanalore Alupay, Benjamin Aaronson, Sean Ackerman, Katy Ankenman, Ayesha Anwar, Constance Atwell, Alexandra Bowe, Arthur L. Beaudet, Marta Benedetti, Jessica Berg, Jeffrey Berman, Leandra N. Berry, Audrey Bibb, Lisa Blaskey, Jonathan Brennan, Christie M. Brewton, Randy L. Buckner, Polina Bukshpun, Jordan Burko, Phil Cali, Bettina M. Cerban, Yi-Shin Chang, Maxwell Cheong

    Gepubliceerd in 2021
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