Using Modern Social Network Techniques to Expand Link Analysis in a Nuclear Reactor Console Redesign von Dinakar, Swaroop, Tippey, Kathryn G., Roady, Trey, Edery, Julien, Ferris, Thomas K.

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Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome von Quartier, Angélique, Poquet, Hélène, Gilbert-Dussardier, Brigitte, Rossi, Massimiliano, Casteleyn, Anne-Sophie, Portes, Vincent des, Feger, Claire, Nourisson, Elsa, Kuentz, Paul, Redin, Claire, Thevenon, Julien, Mosca-Boidron, Anne-Laure, Callier, Patrick, Muller, Jean, Lesca, Gaetan, Huet, Frédéric, Geoffroy, Véronique, El Chehadeh, Salima, Jung, Matthieu, Trojak, Benoit, Le Gras, Stéphanie, Lehalle, Daphné, Jost, Bernard, Maury, Stéphanie, Masurel, Alice, Edery, Patrick, Thauvin-Robinet, Christel, Gérard, Bénédicte, Mandel, Jean-Louis, Faivre, Laurence, Piton, Amélie

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Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropenia von Duplomb, Laurence, Rivière, Julie, Jego, Gaëtan, Da Costa, Romain, Hammann, Arlette, Racine, Jessica, Schmitt, Alain, Droin, Nathalie, Capron, Claude, Gougerot-Pocidalo, Marie-Anne, Dubrez, Laurence, Aral, Bernard, Lafon, Arnaud, Edery, Patrick, Ghoumid, Jamal, Blair, Edward, El Chehadeh-Djebbar, Salima, Carmignac, Virginie, Thevenon, Julien, Guy, Julien, Girodon, François, Bastie, Jean-Noël, Delva, Laurent, Faivre, Laurence, Thauvin-Robinet, Christel, Solary, Eric

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Mandibular-pelvic-patellar syndrome is a novelPITX1-related disorder due to alteration of PITX1 transactivation ability von Morel, Godelieve, Duhamel, Celine, Boussion, Simon, Frenois, Frederic, Lesca, Gaetan, Chatron, Nicolas, Labalme, Audrey, Sanlaville, Damien, Edery, Patrick, Thevenon, Julien, Faivre, Laurence, Fassier, Alice, Prodhomme, Olivier, Escande, Fabienne, Manouvrier, Sylvie, Petit, Florence, Genevieve, David, Rossi, Massimiliano

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Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study) von Chassagne, Aline, Pélissier, Aurore, Houdayer, Françoise, Cretin, Elodie, Gautier, Elodie, Salvi, Dominique, Kidri, Sarah, Godard, Aurélie, Thauvin-Robinet, Christel, Masurel, Alice, Lehalle, Daphné, Jean-Marçais, Nolwenn, Thevenon, Julien, Lesca, Gaetan, Putoux, Audrey, Cordier, Marie-Pierre, Dupuis-Girod, Sophie, Till, Marianne, Duffourd, Yannis, Rivière, Jean-Baptiste, Joly, Lorraine, Juif, Christine, Putois, Olivier, Ancet, Pierre, Lapointe, Anne-Sophie, Morin, Paulette, Edery, Patrick, Rossi, Massimiliano, Sanlaville, Damien, Béjean, Sophie, Peyron, Christine, Faivre, Laurence

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Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study) von Viora-Dupont, Eléonore, Robert, Françoise, Chassagne, Aline, Pélissier, Aurore, Staraci, Stéphanie, Sanlaville, Damien, Edery, Patrick, Lesca, Gaetan, Putoux, Audrey, Pons, Linda, Cadenes, Amandine, Baurand, Amandine, Sawka, Caroline, Bertolone, Geoffrey, Spetchian, Myrtille, Yousfi, Meriem, Salvi, Dominique, Gautier, Elodie, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Bruel, Ange-Line, Tran Mau-Them, Frédéric, Faudet, Anne, Keren, Boris, Labalme, Audrey, Chatron, Nicolas, Abel, Carine, Dupuis-Girod, Sophie, Poisson, Alice, Buratti, Julien, Mignot, Cyril, Afenjar, Alexandra, Whalen, Sandra, Charles, Perrine, Heide, Solveig, Mouthon, Linda, Moutton, Sébastien, Sorlin, Arthur, Nambot, Sophie, Briffaut, Anne-Sophie, Asensio, Marie-Laure, Philippe, Christophe, Thauvin-Robinet, Christel, Héron, Delphine, Rossi, Massimiliano, Meunier-Bellard, Nicolas, Gargiulo, Marcela, Peyron, Christine, Binquet, Christine, Faivre, Laurence

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Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals von Sabbagh, Quentin, Haghshenas, Sadegheh, Piard, Juliette, Trouvé, Chloé, Amiel, Jeanne, Attié-Bitach, Tania, Balci, Tugce, Barat-Houari, Mouna, Belonis, Alyce, Boute, Odile, Brightman, Diana S, Bruel, Ange-Line, Caraffi, Stefano Giuseppe, Chatron, Nicolas, Collet, Corinne, Dufour, William, Edery, Patrick, Fong, Chin-To, Fusco, Carlo, Gatinois, Vincent, Gouy, Evan, Guerrot, Anne-Marie, Heide, Solveig, Joshi, Aakash, Karp, Natalya, Keren, Boris, Lesieur-Sebellin, Marion, Levy, Jonathan, Levy, Michael A, Lozano, Claire, Lyonnet, Stanislas, Margot, Henri, Marzin, Pauline, McConkey, Haley, Michaud, Vincent, Nicolas, Gaël, Nizard, Mevyn, Paulet, Alix, Peluso, Francesca, Pernin, Vincent, Perrin, Laurence, Philippe, Christophe, Prasad, Chitra, Prasad, Madhavi, Relator, Raissa, Rio, Marlène, Rondeau, Sophie, Ruault, Valentin, Ruiz-Pallares, Nathalie, Sanchez, Elodie, Shears, Debbie, Siu, Victoria Mok, Sorlin, Arthur, Tedder, Matthew, Tharreau, Mylène, Mau-Them, Frédéric Tran, van der Laan, Liselot, Van Gils, Julien, Verloes, Alain, Whalen, Sandra, Willems, Marjolaine, Yauy, Kévin, Zuntini, Roberta, Kerkhof, Jennifer, Sadikovic, Bekim, Geneviève, David

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Mandibular‐pelvic‐patellar syndrome is a novel PITX1‐related disorder due to alteration of PITX1 transactivation ability von Morel, Godelieve, Duhamel, Céline, Boussion, Simon, Frénois, Frédéric, Lesca, Gaetan, Chatron, Nicolas, Labalme, Audrey, Sanlaville, Damien, Edery, Patrick, Thevenon, Julien, Faivre, Laurence, Fassier, Alice, Prodhomme, Olivier, Escande, Fabienne, Manouvrier, Sylvie, Petit, Florence, Geneviève, David, Rossi, Massimiliano

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Murine MPDZ‐linked hydrocephalus is caused by hyperpermeability of the choroid plexus von Yang, Junning, Simonneau, Claire, Kilker, Robert, Oakley, Laura, Byrne, Matthew D, Nichtova, Zuzana, Stefanescu, Ioana, Pardeep‐Kumar, Fnu, Tripathi, Sushil, Londin, Eric, Saugier‐Veber, Pascale, Willard, Belinda, Thakur, Mathew, Pickup, Stephen, Ishikawa, Hiroshi, Schroten, Horst, Smeyne, Richard, Horowitz, Arie

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Toxicity to medaka fish embryo development of okadaic acid and crude extracts of Prorocentrum dinoflagellates von Escoffier, Nicolas, Gaudin, Julien, Mezhoud, Karim, Huet, Hélène, Chateau-Joubert, Sophie, Turquet, Jean, Crespeau, François, Edery, Marc

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KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism von Miceli, Francesco, Millevert, Charissa, Soldovieri, Maria Virginia, Mosca, Ilaria, Ambrosino, Paolo, Carotenuto, Lidia, Schrader, Dewi, Lee, Hyun Kyung, Riviello, James, Hong, William, Risen, Sarah, Emrick, Lisa, Amin, Hitha, Ville, Dorothée, Edery, Patrick, de Bellescize, Julitta, Michaud, Vincent, Van-Gils, Julien, Goizet, Cyril, Willemsen, Marjolein H, Kleefstra, Tjitske, Møller, Rikke S, Bayat, Allan, Devinsky, Orrin, Sands, Tristan, Korenke, G Christoph, Kluger, Gerhard, Mefford, Heather C, Brilstra, Eva, Lesca, Gaetan, Milh, Mathieu, Cooper, Edward C, Taglialatela, Maurizio, Weckhuysen, Sarah

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The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance von Lehalle, Daphné, Altunoglu, Umut, Bruel, Ange‐Line, Assoum, Mirna, Duffourd, Yannis, Masurel, Alice, Baujat, Geneviève, Bessieres, Bettina, Captier, Guillaume, Edery, Patrick, Elçioğlu, Nursel H., Geneviève, David, Goldenberg, Alice, Héron, Delphine, Grotto, Sarah, Marlin, Sandrine, Putoux, Audrey, Rossi, Massimiliano, Saugier‐Veber, Pascale, Triau, Stéphane, Cabrol, Christelle, Vézain, Myriam, Vincent‐Delorme, Catherine, Thauvin‐Robinet, Christel, Thevenon, Julien, Vabres, Pierre, Callier, Patrick, Kayserili, Hulya, Faivre, Laurence

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Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome von Quartier, Angélique, Poquet, Hélène, Gilbert-Dussardier, Brigitte, Rossi, Massimiliano, Casteleyn, Anne-Sophie, Portes, Vincent Des, Feger, Claire, Nourisson, Elsa, Kuentz, Paul, Redin, Claire, Thevenon, Julien, Mosca-Boidron, Anne-Laure, Callier, Patrick, Muller, Jean, Lesca, Gaetan, Huet, Frédéric, Geoffroy, Véronique, El Chehadeh, Salima, Jung, Matthieu, Trojak, Benoit, Le Gras, Stéphanie, Lehalle, Daphné, Jost, Bernard, Maury, Stéphanie, Masurel, Alice, Edery, Patrick, Thauvin-Robinet, Christel, Gérard, Bénédicte, Mandel, Jean-Louis, Faivre, Laurence, Piton, Amélie

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

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