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

by Schluth-Bolard, Caroline, Diguet, Flavie, Chatron, Nicolas, Rollat-Farnier, Pierre-Antoine, Bardel, Claire, Afenjar, Alexandra, Amblard, Florence, Amiel, Jeanne, Blesson, Sophie, Callier, Patrick, Capri, Yline, Collignon, Patrick, Cordier, Marie-Pierre, Coubes, Christine, Demeer, Benedicte, Chaussenot, Annabelle, Demurger, Florence, Devillard, Françoise, Doco-Fenzy, Martine, Dupont, Céline, Dupont, Jean-Michel, Dupuis-Girod, Sophie, Faivre, Laurence, Gilbert-Dussardier, Brigitte, Guerrot, Anne-Marie, Houlier, Marine, Isidor, Bertrand, Jaillard, Sylvie, Joly-Hélas, Géraldine, Kremer, Valérie, Lacombe, Didier, Le Caignec, Cédric, Lebbar, Aziza, Lebrun, Marine, Lesca, Gaetan, Lespinasse, James, Levy, Jonathan, Malan, Valérie, Mathieu-Dramard, Michele, Masson, Julie, Masurel-Paulet, Alice, Mignot, Cyril, Missirian, Chantal, Morice-Picard, Fanny, Moutton, Sébastien, Nadeau, Gwenaël, Pebrel-Richard, Céline, Odent, Sylvie, Paquis-Flucklinger, Véronique, Pasquier, Laurent, Philip, Nicole, Plutino, Morgane, Pons, Linda, Portnoï, Marie-France, Prieur, Fabienne, Puechberty, Jacques, Putoux, Audrey, Rio, Marlène, Rooryck-Thambo, Caroline, Rossi, Massimiliano, Sarret, Catherine, Satre, Véronique, Siffroi, Jean-Pierre, Till, Marianne, Touraine, Renaud, Toutain, Annick, Toutain, Jérome, Valence, Stéphanie, Verloes, Alain, Whalen, Sandra, Edery, Patrick, Tabet, Anne-Claude, Sanlaville, Damien
Published in Journal of medical genetics (01.08.2019)

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BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients

by Engel, Camille, Valence, Stéphanie, Delplancq, Geoffroy, Maroofian, Reza, Accogli, Andrea, Agolini, Emanuele, Alkuraya, Fowzan S, Baglioni, Valentina, Bagnasco, Irene, Becmeur-Lefebvre, Mathilde, Bertini, Enrico, Borggraefe, Ingo, Brischoux-Boucher, Elise, Bruel, Ange-Line, Brusco, Alfredo, Bubshait, Dalal K, Cabrol, Christelle, Cilio, Maria Roberta, Cornet, Marie-Coralie, Coubes, Christine, Danhaive, Olivier, Delague, Valérie, Denommé-Pichon, Anne-Sophie, Di Giacomo, Marilena Carmela, Doco-Fenzy, Martine, Engels, Hartmut, Cremer, Kirsten, Gérard, Marion, Gleeson, Joseph G, Heron, Delphine, Goffeney, Joanna, Guimier, Anne, Harms, Frederike L, Houlden, Henry, Iacomino, Michele, Kaiyrzhanov, Rauan, Kamien, Benjamin, Karimiani, Ehsan Ghayoor, Kraus, Dror, Kuentz, Paul, Kutsche, Kerstin, Lederer, Damien, Massingham, Lauren, Mignot, Cyril, Morris-Rosendahl, Déborah, Nagarajan, Lakshmi, Odent, Sylvie, Ormières, Clothilde, Partlow, Jennifer Neil, Pasquier, Laurent, Penney, Lynette, Philippe, Christophe, Piccolo, Gianluca, Poulton, Cathryn, Putoux, Audrey, Rio, Marlène, Rougeot, Christelle, Salpietro, Vincenzo, Scheffer, Ingrid, Schneider, Amy, Srivastava, Siddharth, Straussberg, Rachel, Striano, Pasquale, Valente, Enza Maria, Venot, Perrine, Villard, Laurent, Vitobello, Antonio, Wagner, Johanna, Wagner, Matias, Zaki, Maha S, Zara, Federizo, Lesca, Gaetan, Yassaee, Vahid Reza, Miryounesi, Mohammad, Hashemi-Gorji, Farzad, Beiraghi, Mehran, Ashrafzadeh, Farah, Galehdari, Hamid, Walsh, Christopher, Novelli, Antonio, Tacke, Moritz, Sadykova, Dinara, Maidyrov, Yerdan, Koneev, Kairgali, Shashkin, Chingiz, Capra, Valeria, Zamani, Mina, Van Maldergem, Lionel, Burglen, Lydie, Piard, Juliette
Published in European journal of human genetics : EJHG (01.09.2023)

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