Risultati della ricerca - Mathieu-Dramard, Michèle

Severe Psychomotor Delay in a Severe Presentation of Cat-Eye Syndrome di Jedraszak, Guillaume, Receveur, Aline, Andrieux, Joris, Mathieu-Dramard, Michèle, Copin, Henri, Morin, Gilles

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Natural history of Barth syndrome: a national cohort study of 22 patients di Rigaud, Charlotte, Lebre, Anne-Sophie, Touraine, Renaud, Beaupain, Blandine, Ottolenghi, Chris, Chabli, Allel, Ansquer, Helene, Ozsahin, Hulya, Di Filippo, Sylvie, De Lonlay, Pascale, Borm, Betina, Rivier, Francois, Vaillant, Marie-Catherine, Mathieu-Dramard, Michèle, Goldenberg, Alice, Viot, Géraldine, Charron, Philippe, Rio, Marlene, Bonnet, Damien, Donadieu, Jean

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29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype di Monin, Marie-Lorraine, Mignot, Cyril, De Lonlay, Pascale, Héron, Bénédicte, Masurel, Alice, Mathieu-Dramard, Michèle, Lenaerts, Catherine, Thauvin, Christel, Gérard, Marion, Roze, Emmanuel, Jacquette, Aurélia, Charles, Perrine, de Baracé, Claire, Drouin-Garraud, Valérie, Van Kien, Philippe Khau, Cormier-Daire, Valérie, Mayer, Michèle, Ogier, Hélène, Brice, Alexis, Seta, Nathalie, Héron, Delphine

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Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene? di Ehret, Julia K., Engels, Hartmut, Cremer, Kirsten, Becker, Jessica, Zimmermann, Johannes P., Wohlleber, Eva, Grasshoff, Ute, Rossier, Eva, Bonin, Michael, Mangold, Elisabeth, Bevot, Andrea, Schön, Stefanie, Heilmann-Heimbach, Stefanie, Dennert, Nicola, Mathieu-Dramard, Michèle, Lacaze, Elodie, Plessis, Ghislaine, de Broca, Alain, Jedraszak, Guillaume, Röthlisberger, Benno, Miny, Peter, Filges, Isabel, Dufke, Andreas, Andrieux, Joris, Lee, Jennifer A., Zink, Alexander M.

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A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome di Delvallée, Clarisse, Nicaise, Samuel, Antin, Manuela, Leuvrey, Anne-Sophie, Nourisson, Elsa, Leitch, Carmen C., Kellaris, Georgios, Stoetzel, Corinne, Geoffroy, Véronique, Scheidecker, Sophie, Keren, Boris, Depienne, Christel, Klar, Joakim, Dahl, Niklas, Deleuze, Jean-François, Génin, Emmanuelle, Redon, Richard, Demurger, Florence, Devriendt, Koenraad, Mathieu-Dramard, Michèle, Poitou-Bernert, Christine, Odent, Sylvie, Katsanis, Nicholas, Mandel, Jean-Louis, Davis, Erica E., Dollfus, Hélène, Muller, Jean

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PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy di Thauvin-Robinet, Christel, Auclair, Martine, Duplomb, Laurence, Caron-Debarle, Martine, Avila, Magali, St-Onge, Judith, Le Merrer, Martine, Le Luyer, Bernard, Héron, Delphine, Mathieu-Dramard, Michèle, Bitoun, Pierre, Petit, Jean-Michel, Odent, Sylvie, Amiel, Jeanne, Picot, Damien, Carmignac, Virginie, Thevenon, Julien, Callier, Patrick, Laville, Martine, Reznik, Yves, Fagour, Cédric, Nunes, Marie-Laure, Capeau, Jacqueline, Lascols, Olivier, Huet, Frédéric, Faivre, Laurence, Vigouroux, Corinne, Rivière, Jean-Baptiste

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Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome di Vabres, Pierre, Sorlin, Arthur, Kholmanskikh, Stanislav S., Demeer, Bénédicte, St-Onge, Judith, Duffourd, Yannis, Kuentz, Paul, Courcet, Jean-Benoît, Carmignac, Virginie, Garret, Philippine, Bessis, Didier, Boute, Odile, Bron, Alain, Captier, Guillaume, Carmi, Esther, Devauchelle, Bernard, Geneviève, David, Gondry-Jouet, Catherine, Guibaud, Laurent, Lafon, Arnaud, Mathieu-Dramard, Michèle, Thevenon, Julien, Dobyns, William B., Bernard, Geneviève, Polubothu, Satyamaanasa, Faravelli, Francesca, Kinsler, Veronica A., Thauvin, Christel, Faivre, Laurence, Ross, M. Elizabeth, Rivière, Jean-Baptiste

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Duplication of 10q24 locus: broadening the clinical and radiological spectrum di Holder-Espinasse, Muriel, Jamsheer, Aleksander, Escande, Fabienne, Andrieux, Joris, Petit, Florence, Sowinska-Seidler, Anna, Socha, Magdalena, Jakubiuk-Tomaszuk, Anna, Gerard, Marion, Mathieu-Dramard, Michèle, Cormier-Daire, Valérie, Verloes, Alain, Toutain, Annick, Plessis, Ghislaine, Jonveaux, Philippe, Baumann, Clarisse, David, Albert, Farra, Chantal, Colin, Estelle, Jacquemont, Sébastien, Rossi, Annick, Mansour, Sahar, Ghali, Neeti, Moncla, Anne, Lahiri, Nayana, Hurst, Jane, Pollina, Elena, Patch, Christine, Ahn, Joo Wook, Valat, Anne-Sylvie, Mezel, Aurélie, Bourgeot, Philippe, Zhang, David, Manouvrier-Hanu, Sylvie

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Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing di Redin, Claire, Gérard, Bénédicte, Lauer, Julia, Herenger, Yvan, Muller, Jean, Quartier, Angélique, Masurel-Paulet, Alice, Willems, Marjolaine, Lesca, Gaétan, El-Chehadeh, Salima, Le Gras, Stéphanie, Vicaire, Serge, Philipps, Muriel, Dumas, Michaël, Geoffroy, Véronique, Feger, Claire, Haumesser, Nicolas, Alembik, Yves, Barth, Magalie, Bonneau, Dominique, Colin, Estelle, Dollfus, Hélène, Doray, Bérénice, Delrue, Marie-Ange, Drouin-Garraud, Valérie, Flori, Elisabeth, Fradin, Mélanie, Francannet, Christine, Goldenberg, Alice, Lumbroso, Serge, Mathieu-Dramard, Michèle, Martin-Coignard, Dominique, Lacombe, Didier, Morin, Gilles, Polge, Anne, Sukno, Sylvie, Thauvin-Robinet, Christel, Thevenon, Julien, Doco-Fenzy, Martine, Genevieve, David, Sarda, Pierre, Edery, Patrick, Isidor, Bertrand, Jost, Bernard, Olivier-Faivre, Laurence, Mandel, Jean-Louis, Piton, Amélie

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De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder di Mirzaa, Ghayda, Chong, Jessica X., Piton, Amélie, Popp, Bernt, Foss, Kimberly, Guo, Hui, Harripaul, Ricardo, Xia, Kun, Scheck, Joshua, Aldinger, Kimberly A., Sajan, Samin A., Tang, Sha, Bonneau, Dominique, Beck, Anita, White, Janson, Mahida, Sonal, Harris, Jacqueline, Smith-Hicks, Constance, Hoyer, Juliane, Zweier, Christiane, Reis, André, Thiel, Christian T., Jamra, Rami Abou, Zeid, Natasha, Yang, Amy, Farach, Laura S., Walsh, Laurence, Payne, Katelyn, Rohena, Luis, Velinov, Milen, Ziegler, Alban, Schaefer, Elise, Gatinois, Vincent, Geneviève, David, Simon, Marleen E.H., Kohler, Jennefer, Rotenberg, Joshua, Wheeler, Patricia, Larson, Austin, Ernst, Michelle E., Akman, Cigdem I., Westman, Rachel, Blanchet, Patricia, Schillaci, Lori-Anne, Vincent-Delorme, Catherine, Gripp, Karen W., Mattioli, Francesca, Guyader, Gwenaël Le, Gerard, Bénédicte, Mathieu-Dramard, Michèle, Morin, Gilles, Sasanfar, Roksana, Ayub, Muhammad, Vasli, Nasim, Yang, Sandra, Person, Rick, Monaghan, Kristin G., Nickerson, Deborah A., van Binsbergen, Ellen, Enns, Gregory M, Dries, Annika M, Rowe, Leah J, Tsai, Anne CH, Svihovec, Shayna, Friedman, Jennifer, Agha, Zehra, Qamar, Raheel, Rodan, Lance H., Martinez-Agosto, Julian, Ockeloen, Charlotte W., Vincent, Marie, Sunderland, William James, Bernstein, Jonathan A., Eichler, Evan E., Vincent, John B., Bamshad, Michael J.

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Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus di Jacquemont, Sébastien, Reymond, Alexandre, Zufferey, Flore, Harewood, Louise, Walters, Robin G., Kutalik, Zoltán, Martinet, Danielle, Shen, Yiping, Valsesia, Armand, Beckmann, Noam D., Thorleifsson, Gudmar, Belfiore, Marco, Bouquillon, Sonia, Campion, Dominique, De Leeuw, Nicole, De Vries, Bert B. A., Esko, Tõnu, Fernandez, Bridget A., Fernández-Aranda, Fernando, Fernández-Real, José Manuel, Gratacòs, Mònica, Guilmatre, Audrey, Hoyer, Juliane, Jarvelin, Marjo-Riitta, Kooy, Frank R., Kurg, Ants, Le Caignec, Cédric, Männik, Katrin, Platt, Orah S., Sanlaville, Damien, Van Haelst, Mieke M., Villatoro Gomez, Sergi, Walha, Faida, Wu, Bai-Lin, Yu, Yongguo, Aboura, Azzedine, Addor, Marie-Claude, Alembik, Yves, Antonarakis, Stylianos E., Arveiler, Benoît, Barth, Magalie, Bednarek, Nathalie, Béna, Frédérique, Bergmann, Sven, Beri, Mylène, Bernardini, Laura, Blaumeiser, Bettina, Bonneau, Dominique, Bottani, Armand, Boute, Odile, Brunner, Han G., Cailley, Dorothée, Callier, Patrick, Chiesa, Jean, Chrast, Jacqueline, Coin, Lachlan, Coutton, Charles, Cuisset, Jean-Marie, Cuvellier, Jean-Christophe, David, Albert, De Freminville, Bénédicte, Delobel, Bruno, Delrue, Marie-Ange, Demeer, Bénédicte, Descamps, Dominique, Didelot, Gérard, Dieterich, Klaus, Disciglio, Vittoria, Doco-Fenzy, Martine, Drunat, Séverine, Duban-Bedu, Bénédicte, Dubourg, Christèle, El-Sayed Moustafa, Julia S., Elliott, Paul, Faas, Brigitte H. W., Faivre, Laurence, Faudet, Anne, Fellmann, Florence, Ferrarini, Alessandra, Fisher, Richard, Flori, Elisabeth, Forer, Lukas, Gaillard, Dominique, Gerard, Marion, Gieger, Christian, Gimelli, Stefania, Gimelli, Giorgio, Grabe, Hans J., Guichet, Agnès, Guillin, Olivier, Hartikainen, Anna-Liisa, Heron, Délphine, Hippolyte, Loyse, Holder, Muriel, Homuth, Georg, Isidor, Bertrand, Jaillard, Sylvie, Jaros, Zdenek, Jiménez-Murcia, Susana, Joly Helas, Géraldine, Jonveaux, Philippe, Kaksonen, Satu, Keren, Boris, Kloss-Brandstätter, Anita, Knoers, Nine V. A. M., Koolen, David A., Kroisel, Peter M., Kronenberg, Florian, Labalme, Audrey, Landais, Emilie, Lapi, Elisabetta, Layet, Valérie, Legallic, Solenn, Leheup, Bruno, Leube, Barbara, Lewis, Suzanne, Lucas, Josette, Macdermot, Kay D., Magnusson, Pall, Marshall, Christian R., Mathieu-Dramard, Michèle, Mccarthy, Mark I., Meitinger, Thomas, Antonietta Mencarelli, Maria, Merla, Giuseppe, Moerman, Alexandre, Mooser, Vincent, Morice-Picard, Fanny, Mucciolo, Mafalda, Nauck, Matthias, Coumba Ndiaye, Ndeye, Nordgren, Ann, Pasquier, Laurent, Petit, Florence, Pfundt, Rolph, Plessis, Ghislaine, Rajcan-Separovic, Evica, Paolo Ramelli, Gian, Rauch, Anita, Ravazzolo, Roberto, Reis, Andre, Renieri, Alessandra, Richart, Cristobal, Ried, Janina S., Rieubland, Claudine, Roberts, Wendy, Roetzer, Katharina M., Rooryck, Caroline, Rossi, Massimiliano, Saemundsen, Evald, Satre, Véronique, Schurmann, Claudia, Sigurdsson, Engilbert, Stavropoulos, Dimitri J., Stefansson, Hreinn, Tengström, Carola, Thorsteinsdóttir, Unnur, Tinahones, Francisco J., Touraine, Renaud, Vallée, Louis, Van Binsbergen, Ellen, Van Der Aa, Nathalie, Vincent-Delorme, Catherine, Visvikis-Siest, Sophie, Vollenweider, Peter, Völzke, Henry, Vulto-Van Silfhout, Anneke T., Waeber, Gérard, Wallgren-Pettersson, Carina, Witwicki, Robert M., Zwolinksi, Simon, Andrieux, Joris, Estivill, Xavier, Gusella, James F., Gustafsson, Omar, Metspalu, Andres, Scherer, Stephen W., Stefansson, Kari, Blakemore, Alexandra I. F., Beckmann, Jacques S., Froguel, Philippe

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