Labyrinth disk for a turbomachine von Didier Pasquiet, Frederic Lespinasse, Emilie Pouzet

Volltext bestellen

Labyrinth disk for a turbomachine von Pasquiet Didier, Pouzet Emilie, Lespinasse Frederic

Volltext bestellen

LABYRINTH DISK FOR A TURBOMACHINE von LESPINASSE FREDERIC, POUZET EMILIE, PASQUIET DIDIER

Volltext bestellen

DISQUE LABYRINTHE DE TURBOMACHINE von LESPINASSE FREDERIC, POUZET EMILIE, PASQUIET DIDIER

Volltext bestellen

Labyrinth disk for a turbomachine von FREDERIC LESPINASSE, EMILIE POUZET, DIDIER PASQUIET

Volltext bestellen

DISQUE LABYRINTHE DE TURBOMACHINE von LESPINASSE FREDERIC, POUZET EMILIE, PASQUIET DIDIER

Volltext bestellen

Associations among hypertension, dementia biomarkers, and cognition: The MEMENTO cohort von Lespinasse, Jérémie, Chêne, Geneviève, Mangin, Jean‐Francois, Dubois, Bruno, Blanc, Frederic, Paquet, Claire, Hanon, Olivier, Planche, Vincent, Gabelle, Audrey, Ceccaldi, Mathieu, Annweiler, Cedric, Krolak‐Salmon, Pierre, Godefroy, Olivier, Wallon, David, Sauvée, Mathilde, Bergeret, Sébastien, Chupin, Marie, Proust‐Lima, Cécile, Dufouil, Carole

Volltext

Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis von Tran Mau-Them, Frédéric, Overs, Alexis, Bruel, Ange-Line, Duquet, Romain, Thareau, Mylene, Denommé-Pichon, Anne-Sophie, Vitobello, Antonio, Sorlin, Arthur, Safraou, Hana, Nambot, Sophie, Delanne, Julian, Moutton, Sebastien, Racine, Caroline, Engel, Camille, De Giraud d'Agay, Melchior, Lehalle, Daphne, Goldenberg, Alice, Willems, Marjolaine, Coubes, Christine, Genevieve, David, Verloes, Alain, Capri, Yline, Perrin, Laurence, Jacquemont, Marie-Line, Lambert, Laetitia, Lacaze, Elodie, Thevenon, Julien, Hana, Nadine, Van-Gils, Julien, Dubucs, Charlotte, Bizaoui, Varoona, Gerard-Blanluet, Marion, Lespinasse, James, Mercier, Sandra, Guerrot, Anne-Marie, Maystadt, Isabelle, Tisserant, Emilie, Faivre, Laurence, Philippe, Christophe, Duffourd, Yannis, Thauvin-Robinet, Christel

Volltext

CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature von Rouxel, Flavien, Relator, Raissa, Kerkhof, Jennifer, McConkey, Haley, Levy, Michael, Dias, Patricia, Barat-Houari, Mouna, Bednarek, Nathalie, Boute, Odile, Chatron, Nicolas, Cherik, Florian, Delahaye-Duriez, Andrée, Doco-Fenzy, Martine, Faivre, Laurence, Gauthier, Lucas W., Heron, Delphine, Hildebrand, Michael S., Lesca, Gaëtan, Lespinasse, James, Mazel, Benoit, Menke, Leonie A., Morgan, Angela T., Pinson, Lucile, Quelin, Chloe, Rossi, Massimiliano, Ruiz-Pallares, Nathalie, Tran-Mau-Them, Frederic, Van Kessel, Imke N., Vincent, Marie, Weber, Mathys, Willems, Marjolaine, Leguyader, Gwenael, Sadikovic, Bekim, Genevieve, David

Volltext

Phenotypic characterization of seven individuals with Marbach–Schaaf neurodevelopmental syndrome von Marbach, Felix, Lipska‐Ziętkiewicz, Beata S., Knurowska, Agata, Michaud, Vincent, Margot, Henri, Lespinasse, James, Tran Mau Them, Frédéric, Coubes, Christine, Park, Joohyun, Grosch, Sarah, Roggia, Cristiana, Grasshoff, Ute, Kalsner, Louisa, Denommé‐Pichon, Anne‐Sophie, Afenjar, Alexandra, Héron, Bénédicte, Keren, Boris, Caro, Pilar, Schaaf, Christian P.

Volltext

Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization von Brioude, Frederic, Netchine, Irène, Praz, Francoise, Le Jule, Marilyne, Calmel, Claire, Lacombe, Didier, Edery, Patrick, Catala, Martin, Odent, Sylvie, Isidor, Bertrand, Lyonnet, Stanislas, Sigaudy, Sabine, Leheup, Bruno, Audebert-Bellanger, Séverine, Burglen, Lydie, Giuliano, Fabienne, Alessandri, Jean-Luc, Cormier-Daire, Valérie, Laffargue, Fanny, Blesson, Sophie, Coupier, Isabelle, Lespinasse, James, Blanchet, Patricia, Boute, Odile, Baumann, Clarisse, Polak, Michel, Doray, Berenice, Verloes, Alain, Viot, Géraldine, Le Bouc, Yves, Rossignol, Sylvie

Volltext

Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features von Tenorio‐Castaño, Jair Antonio, Arias, Pedro, Fernández‐Jaén, Alberto, Lay‐Son, Guillermo, Bueno‐Lozano, Gloria, Bayat, Allan, Faivre, Laurence, Gallego, Natalia, Ramos, Sergio, Butler, Kameryn M., Morel, Chantal, Hadjiyannakis, Stasia, Lespinasse, James, Tran‐Mau‐Them, Frederic, Santos‐Simarro, Fernando, Pinson, Lucile, Martínez‐Monseny, Antonio Federico, O'Callaghan Cord, María del Mar, Álvarez, Sara, Stolerman, Elliot S., Washington, Camerun, Ramos, Feliciano J., The S. O. G. R. I. Consortium, Lapunzina, Pablo

Volltext

Transcription Factor SOX3 Is Involved in X-Linked Mental Retardation with Growth Hormone Deficiency von Laumonnier, Frédéric, Ronce, Nathalie, Hamel, Ben C.J., Thomas, Paul, Lespinasse, James, Raynaud, Martine, Paringaux, Christine, van Bokhoven, Hans, Kalscheuer, Vera, Fryns, Jean-Pierre, Chelly, Jamel, Moraine, Claude, Briault, Sylvain

Volltext

Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing von Bruel, Ange-Line, Nambot, Sophie, Quéré, Virginie, Vitobello, Antonio, Thevenon, Julien, Assoum, Mirna, Moutton, Sébastien, Houcinat, Nada, Lehalle, Daphné, Jean-Marçais, Nolwenn, Chevarin, Martin, Jouan, Thibaud, Poë, Charlotte, Callier, Patrick, Tisserand, Emilie, Philippe, Christophe, Them, Frédéric Tran Mau, Duffourd, Yannis, Faivre, Laurence, Thauvin-Robinet, Christel

Volltext

Nifuroxazide rescues the deleterious effects due to CHCHD10-associated MICOS defects in disease models von Ropert, Baptiste, Bannwarth, Sylvie, Genin, Emmanuelle C, Vaillant-Beuchot, Loan, Lacas-Gervais, Sandra, Hounoum, Blandine Madji, Bernardin, Aurore, Dinh, Nhu, Mauri-Crouzet, Alessandra, D'Elia, Marc-Alexandre, Augé, Gaelle, Lespinasse, Françoise, Di Giorgio, Audrey, Meira, Willian, Bonnefoy, Nathalie, Monassier, Laurent, Schiff, Manuel, Sago, Laila, Kilinc, Devrim, Brau, Frédéric, Redeker, Virginie, Bohl, Delphine, Tribouillard-Tanvier, Déborah, Procaccio, Vincent, Azoulay, Stéphane, Ricci, Jean-Ehrland, Delahodde, Agnès, Paquis-Flucklinger, Véronique

Volltext

ASSOCIATION BETWEEN HYPERTENSION AND ALZHEIMER’S DISEASE AND RELATED CAUSES OF DEMENTIA: A PATHWAYS ANALYSIS IN THE MEMENTO COHORT von Lespinasse, Jérémie, Proust-Lima, Cécile, Mangin, Jean-Francois, Bertin, Hugo, Pasquier, Florence, Ousset, Pierre Jean, Dubois, Bruno, Blanc, Frederic, Hanon, Olivier, Paquet, Claire, Tison, François, Gabelle, Audrey, Ceccaldi, Mathieu, Annweiler, Cedric, David, Renaud, Godefroy, Olivier, Rouch-Leroyer, Isabelle, Benetos, Athanasios, Moreaud, Olivier, Sellal, François, Jalenques, Isabelle, Vandel, Pierre, Habert, Marie-Odile, Chupin, Marie, Chêne, Geneviève, Dufouil, Carole

Volltext

O1‐06‐04: ASSOCIATION BETWEEN HYPERTENSION AND ALZHEIMER'S DISEASE AND RELATED CAUSES OF DEMENTIA: A PATHWAYS ANALYSIS IN THE MEMENTO COHORT von Lespinasse, Jérémie, Proust-Lima, Cécile, Mangin, Jean-Francois, Bertin, Hugo, Pasquier, Florence, Ousset, Pierre Jean, Dubois, Bruno, Blanc, Frederic, Hanon, Olivier, Paquet, Claire, Tison, François, Gabelle, Audrey, Ceccaldi, Mathieu, Annweiler, Cedric, David, Renaud, Godefroy, Olivier, Rouch-Leroyer, Isabelle, Benetos, Athanasios, Moreaud, Olivier, Sellal, François, Jalenques, Isabelle, Vandel, Pierre, Habert, Marie-Odile, Chupin, Marie, Chêne, Geneviève, Dufouil, Carole

Volltext

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders von Husson, Thomas, Lecoquierre, François, Nicolas, Gaël, Richard, Anne-Claire, Afenjar, Alexandra, Audebert-Bellanger, Séverine, Badens, Catherine, Bilan, Frédéric, Bizaoui, Varoona, Boland, Anne, Bonnet-Dupeyron, Marie-Noëlle, Brischoux-Boucher, Elise, Bonnet, Céline, Bournez, Marie, Boute, Odile, Brunelle, Perrine, Caumes, Roseline, Charles, Perrine, Chassaing, Nicolas, Chatron, Nicolas, Cogné, Benjamin, Colin, Estelle, Cormier-Daire, Valérie, Dard, Rodolphe, Dauriat, Benjamin, Delanne, Julian, Deleuze, Jean-François, Demurger, Florence, Denommé-Pichon, Anne-Sophie, Depienne, Christel, Dieux, Anne, Dubourg, Christèle, Edery, Patrick, El Chehadeh, Salima, Faivre, Laurence, Fergelot, Patricia, Fradin, Mélanie, Garde, Aurore, Geneviève, David, Gilbert-Dussardier, Brigitte, Goizet, Cyril, Goldenberg, Alice, Gouy, Evan, Guerrot, Anne-Marie, Guimier, Anne, Harzalla, Inès, Héron, Delphine, Isidor, Bertrand, Lacombe, Didier, Le Guillou Horn, Xavier, Keren, Boris, Kuechler, Alma, Lacaze, Elodie, Lavillaureix, Alinoë, Lehalle, Daphné, Lesca, Gaëtan, Lespinasse, James, Levy, Jonathan, Lyonnet, Stanislas, Morel, Godeliève, Jean-Marçais, Nolwenn, Marlin, Sandrine, Marsili, Luisa, Mignot, Cyril, Nambot, Sophie, Nizon, Mathilde, Olaso, Robert, Pasquier, Laurent, Perrin, Laurine, Petit, Florence, Pingault, Veronique, Piton, Amélie, Prieur, Fabienne, Putoux, Audrey, Planes, Marc, Odent, Sylvie, Quélin, Chloé, Quemener-Redon, Sylvia, Rama, Mélanie, Rio, Marlène, Rossi, Massimiliano, Schaefer, Elise, Rondeau, Sophie, Saugier-Veber, Pascale, Smol, Thomas, Sigaudy, Sabine, Touraine, Renaud, Mau-Them, Frederic Tran, Trimouille, Aurélien, Van Gils, Julien, Vanlerberghe, Clémence, Vantalon, Valérie, Vera, Gabriella, Vincent, Marie, Ziegler, Alban, Guillin, Olivier, Campion, Dominique, Charbonnier, Camille

Volltext

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice von Sheppard, Sarah E, Bryant, Laura, Wickramasekara, Rochelle N, Vaccaro, Courtney, Robertson, Brynn, Hallgren, Jodi, Hulen, Jason, Watson, Cynthia J, Faundes, Victor, Duffourd, Yannis, Lee, Pearl, Simon, M Celeste, de la Cruz, Xavier, Padilla, Natália, Flores-Mendez, Marco, Akizu, Naiara, Smiler, Jacqueline, Pellegrino Da Silva, Renata, Li, Dong, March, Michael, Diaz-Rosado, Abdias, Peixoto de Barcelos, Isabella, Choa, Zhao Xiang, Lim, Chin Yan, Dubourg, Christèle, Journel, Hubert, Demurger, Florence, Mulhern, Maureen, Akman, Cigdem, Lippa, Natalie, Andrews, Marisa, Baldridge, Dustin, Constantino, John, van Haeringen, Arie, Snoeck-Streef, Irina, Chow, Penny, Hing, Anne, Graham, Jr, John M, Au, Margaret, Faivre, Laurence, Shen, Wei, Mao, Rong, Palumbos, Janice, Viskochil, David, Gahl, William, Tifft, Cynthia, Macnamara, Ellen, Hauser, Natalie, Miller, Rebecca, Maffeo, Jessica, Afenjar, Alexandra, Doummar, Diane, Keren, Boris, Arn, Pamela, Macklin-Mantia, Sarah, Meerschaut, Ilse, Callewaert, Bert, Reis, André, Zweier, Christiane, Brewer, Carole, Saggar, Anand, Smeland, Marie F, Kumar, Ajith, Elmslie, Frances, Deshpande, Charu, Nizon, Mathilde, Cogne, Benjamin, van Ierland, Yvette, Wilke, Martina, van Slegtenhorst, Marjon, Koudijs, Suzanne, Chen, Jin Yun, Dredge, David, Pier, Danielle, Wortmann, Saskia, Kamsteeg, Erik-Jan, Koch, Johannes, Haynes, Devon, Pollack, Lynda, Titheradge, Hannah, Ranguin, Kara, Denommé-Pichon, Anne-Sophie, Weber, Sacha, Pérez de la Fuente, Rubén, Sánchez Del Pozo, Jaime, Lezana Rosales, Jose Miguel, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Mei, Davide, Mari, Francesco, Guerrini, Renzo, Lespinasse, James, Tran Mau-Them, Frédéric, Philippe, Christophe, Dauriat, Benjamin, Raymond, Laure, Moutton, Sébastien, Cueto-González, Anna M, Tan, Tiong Yang

Volltext

The different clinical facets of SYN1 -related neurodevelopmental disorders von Parenti, Ilaria, Leitão, Elsa, Kuechler, Alma, Villard, Laurent, Goizet, Cyril, Courdier, Cécile, Bayat, Allan, Rossi, Alessandra, Julia, Sophie, Bruel, Ange-Line, Tran Mau-Them, Frédéric, Nambot, Sophie, Lehalle, Daphné, Willems, Marjolaine, Lespinasse, James, Ghoumid, Jamal, Caumes, Roseline, Smol, Thomas, El Chehadeh, Salima, Schaefer, Elise, Abi-Warde, Marie-Thérèse, Keren, Boris, Afenjar, Alexandra, Tabet, Anne-Claude, Levy, Jonathan, Maruani, Anna, Aledo-Serrano, Ángel, Garming, Waltraud, Milleret-Pignot, Clara, Chassevent, Anna, Koopmans, Marije, Verbeek, Nienke E, Person, Richard, Belles, Rebecca, Bellus, Gary, Salbert, Bonnie A, Kaiser, Frank J, Mazzola, Laure, Convers, Philippe, Perrin, Laurine, Piton, Amélie, Wiegand, Gert, Accogli, Andrea, Brancati, Francesco, Benfenati, Fabio, Chatron, Nicolas, Lewis-Smith, David, Thomas, Rhys H, Zara, Federico, Striano, Pasquale, Lesca, Gaetan, Depienne, Christel

Volltext