Výsledky vyhledávání - Lebrun, Nicolas

Pneumopathie médicamenteuse ou liée à la COVID-19 : un train peut en cacher un autre ! Autor Vasseur, Mélanie, Tambon, Marine, Gony, Mireille, Lebrun, Nicolas, Bagheri, Haleh

Získat plný text Získat plný text Získat plný text

Hippocampal Excitatory Synaptic Transmission and Plasticity Are Differentially Altered during Postnatal Development by Loss of the X-Linked Intellectual Disability Protein Oligophr... Autor Cresto, Noemie, Lebrun, Nicolas, Dumont, Florent, Letourneur, Franck, Billuart, Pierre, Rouach, Nathalie

Získat plný text Získat plný text Získat plný text

Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome Autor Lebrun, Nicolas, Giurgea, Irina, Goldenberg, Alice, Dieux, Anne, Afenjar, Alexandra, Ghoumid, Jamal, Diebold, Bertrand, Mietton, Léo, Briand-Suleau, Audrey, Billuart, Pierre, Bienvenu, Thierry

Získat plný text Získat plný text Získat plný text

Mutation of plasma membrane Ca(2+) ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca(2+) homeostasis Autor Zanni, Ginevra, Calì, Tito, Kalscheuer, Vera M., Ottolini, Denis, Barresi, Sabina, Lebrun, Nicolas, Montecchi-Palazzi, Luisa, Hu, Hao, Chelly, Jamel, Bertini, Enrico, Brini, Marisa, Carafoli, Ernesto

Získat plný text Získat plný text Získat plný text

Ghrelin Gene Deletion Alters Pulsatile Growth Hormone Secretion in Adult Female Mice Autor Hassouna, Rim, Fernandez, Gimena, Lebrun, Nicolas, Fiquet, Oriane, Roelfsema, Ferdinand, Labarthe, Alexandra, Zizzari, Philippe, Tomasetto, Catherine, Epelbaum, Jacques, Viltart, Odile, Chauveau, Christophe, Perello, Mario, Tolle, Virginie

Získat plný text Získat plný text Získat plný text

Comprehensive Linkage and Association Analyses Identify Haplotype, Near to the TNFSF15 Gene, Significantly Associated with Spondyloarthritis Autor Zinovieva, Elena, Bourgain, Catherine, Kadi, Amir, Letourneur, Franck, Izac, Brigitte, Said-Nahal, Roula, Lebrun, Nicolas, Cagnard, Nicolas, Vigier, Agathe, Jacques, Sébastien, Miceli-Richard, Corinne, Garchon, Henri-Jean, Heath, Simon, Charon, Céline, Bacq, Delphine, Boland, Anne, Zelenika, Diana, Chiocchia, Gilles, Breban, Maxime

Získat plný text Získat plný text Získat plný text

Mutations in the neuronal β-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects Autor Poirier, Karine, Saillour, Yoann, Bahi-Buisson, Nadia, Jaglin, Xavier H., Fallet-Bianco, Catherine, Nabbout, Rima, Castelnau-Ptakhine, Laetitia, Roubertie, Agathe, Attie-Bitach, Tania, Desguerre, Isabelle, Genevieve, David, Barnerias, Christine, Keren, Boris, Lebrun, Nicolas, Boddaert, Nathalie, Encha-Razavi, Féréchté, Chelly, Jamel

Získat plný text Získat plný text Získat plný text

Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis Autor Ramos-Brossier, Mariana, Montani, Caterina, Lebrun, Nicolas, Gritti, Laura, Martin, Christelle, Seminatore-Nole, Christine, Toussaint, Aurelie, Moreno, Sarah, Poirier, Karine, Dorseuil, Olivier, Chelly, Jamel, Hackett, Anna, Gecz, Jozef, Bieth, Eric, Faudet, Anne, Heron, Delphine, Kooy, Frank, Loeys, Bart, Humeau, Yann, Sala, Carlo, Billuart, Pierre

Získat plný text Získat plný text

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly Autor Poirier, Karine, Lebrun, Nicolas, Broix, Loic, Tian, Guoling, Saillour, Yoann, Boscheron, Cécile, Parrini, Elena, Valence, Stephanie, SaintPierre, Benjamin, Oger, Madison, Lacombe, Didier, Geneviève, David, Fontana, Elena, Darra, Franscesca, Cances, Claude, Barth, Magalie, Bonneau, Dominique, Bernadina, Bernardo Dalla, N’Guyen, Sylvie, Gitiaux, Cyril, Parent, Philippe, des Portes, Vincent, Pedespan, Jean Michel, Legrez, Victoire, Castelnau-Ptakine, Laetitia, Nitschke, Patrick, Hieu, Thierry, Masson, Cecile, Zelenika, Diana, Andrieux, Annie, Francis, Fiona, Guerrini, Renzo, Cowan, Nicholas J., Bahi-Buisson, Nadia, Chelly, Jamel

Získat plný text Získat plný text Získat plný text

Mosaic parental germline mutations causing recurrent forms of malformations of cortical development Autor Zillhardt, Julia Lauer, Poirier, Karine, Broix, Loïc, Lebrun, Nicolas, Elmorjani, Adrienne, Martinovic, Jelena, Saillour, Yoann, Muraca, Giuseppe, Nectoux, Juliette, Bessieres, Bettina, Fallet-Bianco, Catherine, Lyonnet, Stanislas, Dulac, Olivier, Odent, Sylvie, Rejeb, Imen, Jemaa, Lamia Ben, Rivier, Francois, Pinson, Lucile, Geneviève, David, Musizzano, Yuri, Bigi, Nicole, Leboucq, Nicolas, Giuliano, Fabienne, Philip, Nicole, Vilain, Catheline, Van Bogaert, Patrick, Maurey, Hélène, Beldjord, Cherif, Artiguenave, François, Boland, Anne, Olaso, Robert, Masson, Cécile, Nitschké, Patrick, Deleuze, Jean-François, Bahi-Buisson, Nadia, Chelly, Jamel

Získat plný text Získat plný text Získat plný text

Mutations in the HECT domain of NEDD4L lead to AKT/mTOR pathway deregulation and cause periventricular nodular heterotopia Autor Broix, Loïc, Jagline, Hélène, Ivanova, Ekaterina, Schmucker, Stéphane, Drouot, Nathalie, Clayton-Smith, Jill, Pagnamenta, Alistair T., Metcalfe, Kay.A., Isidor, Bertrand, Louvier, Ulrike Walther, Poduri, Annapurna, Taylor, Jenny C., Tilly, Peggy, Poirier, Karine, Saillour, Yoann, Lebrun, Nicolas, Stemmelen, Tristan, Rudolf, Gabrielle, Muraca, Giuseppe, Saintpierre, Benjamin, Elmorjani, Adrienne, Moïse, Martin, Weirauch, Nathalie Bednarek, Guerrini, Renzo, Boland, Anne, Olaso, Robert, Masson, Cecile, Tripathy, Ratna, Keays, David, Beldjord, Cherif, Nguyen, Laurent, Godin, Juliette, Kini, Usha, Nischké, Patrick, Deleuze, Jean-François, Bahi-Buisson, Nadia, Sumara, Izabela, Hinckelmann, Maria-Victoria, Chelly, Jamel

Získat plný text Získat plný text Získat plný text

ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity Autor Hirata, Hiromi, Nanda, Indrajit, van Riesen, Anne, McMichael, Gai, Hu, Hao, Hambrock, Melanie, Papon, Marie-Amélie, Fischer, Ute, Marouillat, Sylviane, Ding, Can, Alirol, Servane, Bienek, Melanie, Preisler-Adams, Sabine, Grimme, Astrid, Seelow, Dominik, Webster, Richard, Haan, Eric, MacLennan, Alastair, Stenzel, Werner, Yap, Tzu Ying, Gardner, Alison, Nguyen, Lam Son, Shaw, Marie, Lebrun, Nicolas, Haas, Stefan A., Kress, Wolfram, Haaf, Thomas, Schellenberger, Elke, Chelly, Jamel, Viot, Géraldine, Shaffer, Lisa G., Rosenfeld, Jill A., Kramer, Nancy, Falk, Rena, El-Khechen, Dima, Escobar, Luis F., Hennekam, Raoul, Wieacker, Peter, Hübner, Christoph, Ropers, Hans-Hilger, Gecz, Jozef, Schuelke, Markus, Laumonnier, Frédéric, Kalscheuer, Vera M.

Získat plný text Získat plný text Získat plný text

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis Autor Mak, Christopher C Y, Doherty, Dan, Lin, Angela E, Vegas, Nancy, Cho, Megan T, Viot, Géraldine, Dimartino, Clémantine, Weisfeld-Adams, James D, Lessel, Davor, Joss, Shelagh, Li, Chumei, Gonzaga-Jauregui, Claudia, Zarate, Yuri A, Ehmke, Nadja, Horn, Denise, Troyer, Caitlin, Kant, Sarina G, Lee, Youngha, Ishak, Gisele E, Leung, Gordon, Barone Pritchard, Amanda, Yang, Sandra, Bend, Eric G, Filippini, Francesca, Roadhouse, Chelsea, Lebrun, Nicolas, Mehaffey, Michele G, Martin, Pierre-Marie, Apple, Benjamin, Millan, Francisca, Puk, Oliver, Hoffer, Mariette J V, Henderson, Lindsay B, McGowan, Ruth, Wentzensen, Ingrid M, Pei, Steven, Zahir, Farah R, Yu, Mullin, Gibson, William T, Seman, Ann, Steeves, Marcie, Murrell, Jill R, Luettgen, Sabine, Francisco, Elizabeth, Strom, Tim M, Amlie-Wolf, Louise, Kaindl, Angela M, Wilson, William G, Halbach, Sara, Basel-Salmon, Lina, Lev-El, Noa, Denecke, Jonas, Vissers, Lisenka E L M, Radtke, Kelly, Chelly, Jamel, Zackai, Elaine, Friedman, Jan M, Bamshad, Michael J, Nickerson, Deborah A, Reid, Russell R, Devriendt, Koenraad, Chae, Jong-Hee, Stolerman, Elliot, McDougall, Carey, Powis, Zöe, Bienvenu, Thierry, Tan, Tiong Y, Orenstein, Naama, Dobyns, William B, Shieh, Joseph T, Choi, Murim, Waggoner, Darrel, Gripp, Karen W, Parker, Michael J, Stoler, Joan, Lyonnet, Stanislas, Cormier-Daire, Valérie, Viskochil, David, Hoffman, Trevor L, Amiel, Jeanne, Chung, Brian H Y, Gordon, Christopher T

Získat plný text Získat plný text Získat plný text