Resultados da busca - Pacault, Mathilde
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Cysteinyl leukotriene signaling through perinuclear CysLT(1) receptors on vascular smooth muscle cells transduces nuclear calcium signaling and alterations of gene expression por Eaton, Alison, Nagy, Edit, Pacault, Mathilde, Fauconnier, Jérémy, Bäck, Magnus
Publicado em 2012Texto -
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New splicing pathogenic variant in EBP causing extreme familial variability of Conradi–Hünermann–Happle Syndrome por Pacault, Mathilde, Vincent, Marie, Besnard, Thomas, Kannengiesser, Caroline, Bénéteau, Claire, Barbarot, Sébastien, Latypova, Xénia, Belabbas, Khaldia, Lamazière, Antonin, Winer, Norbert, Joubert, Madeleine, Bézieau, Stéphane, Isidor, Bertrand, Mercier, Sandra, Nizon, Mathilde, Leclerc-Mercier, Stéphanie, Hadj-Rabia, Smail, Dufernez, Fabienne
Publicado em 2018Texto -
3
NBEA: developmental disease gene with early generalized epilepsy phenotypes por Mulhern, Maureen S., Stumpel, Constance, Stong, Nicholas, Brunner, Han G., Bier, Louise, Lippa, Natalie, Riviello, James, Rouhl, Rob P.W., Kempers, Marlies, Pfundt, Rolph, Stegmann, Alexander P.A., Kukolich, Mary K., Telegrafi, Aida, Lehman, Anna, Lopez-Rangel, Elena, Houcinat, Nada, Barth, Magalie, den Hollander, Nicolette, Hoffer, Mariette JV, Weckhuysen, Sarah, Roovers, Jolien, Djemie, Tania, Barca, Diana, Ceulemans, Berten, Craiu, Dana, Lemke, Johannes R., Korff, Christian, Mefford, Heather C., Meyers, Candace T., Siegler, Zsuzsanna, Hiatt, Susan M., Cooper, Gregory M., Bebin, E. Martina, Snijders-Blok, Lot, Veenstra-Knol, Hermine E., Baugh, Evan H., Brilstra, E.H., Volker-Touw, Catharina M.L., van Binsbergen, Ellen, Revah-Politi, Anya, Pereira, Elaine, McBrian, Danielle, Pacault, Mathilde, Isidor, Bertrand, Le Caignec, Cedric, Gilbert-Dussardier, Brigitte, Bilan, Frederic, Heinzen, Erin L., Goldstein, David B., Stevens, Servi J. C., Sands, Tristan T.
Publicado em 2018Texto -
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De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder por Küry, Sébastien, Besnard, Thomas, Ebstein, Frédéric, Khan, Tahir N., Gambin, Tomasz, Douglas, Jessica, Bacino, Carlos A., Sanders, Stephan J., Lehmann, Andrea, Latypova, Xénia, Khan, Kamal, Pacault, Mathilde, Sacharow, Stephanie, Glaser, Kimberly, Bieth, Eric, Perrin-Sabourin, Laurence, Jacquemont, Marie-Line, Cho, Megan T., Roeder, Elizabeth, Denommé-Pichon, Anne-Sophie, Monaghan, Kristin G., Yuan, Bo, Xia, Fan, Simon, Sylvain, Bonneau, Dominique, Parent, Philippe, Gilbert-Dussardier, Brigitte, Odent, Sylvie, Toutain, Annick, Pasquier, Laurent, Barbouth, Deborah, Shaw, Chad A., Patel, Ankita, Smith, Janice L., Bi, Weimin, Schmitt, Sébastien, Deb, Wallid, Nizon, Mathilde, Mercier, Sandra, Vincent, Marie, Rooryck, Caroline, Malan, Valérie, Briceño, Ignacio, Gómez, Alberto, Nugent, Kimberly M., Gibson, James B., Cogné, Benjamin, Lupski, James R., Stessman, Holly A.F., Eichler, Evan E., Retterer, Kyle, Yang, Yaping, Redon, Richard, Katsanis, Nicholas, Rosenfeld, Jill A., Kloetzel, Peter-Michael, Golzio, Christelle, Bézieau, Stéphane, Stankiewicz, Paweł, Isidor, Bertrand
Publicado em 2017Texto -
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De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder por Küry, Sébastien, Besnard, Thomas, Ebstein, Frédéric, Khan, Tahir N., Gambin, Tomasz, Douglas, Jessica, Bacino, Carlos A., Craigen, William J., Sanders, Stephan J., Lehmann, Andrea, Latypova, Xénia, Khan, Kamal, Pacault, Mathilde, Sacharow, Stephanie, Glaser, Kimberly, Bieth, Eric, Perrin-Sabourin, Laurence, Jacquemont, Marie-Line, Cho, Megan T., Roeder, Elizabeth, Denommé-Pichon, Anne-Sophie, Monaghan, Kristin G., Yuan, Bo, Xia, Fan, Simon, Sylvain, Bonneau, Dominique, Parent, Philippe, Gilbert-Dussardier, Brigitte, Odent, Sylvie, Toutain, Annick, Pasquier, Laurent, Barbouth, Deborah, Shaw, Chad A., Patel, Ankita, Smith, Janice L., Bi, Weimin, Schmitt, Sébastien, Deb, Wallid, Nizon, Mathilde, Mercier, Sandra, Vincent, Marie, Rooryck, Caroline, Malan, Valérie, Briceño, Ignacio, Gómez, Alberto, Nugent, Kimberly M., Gibson, James B., Cogné, Benjamin, Lupski, James R., Stessman, Holly A.F., Eichler, Evan E., Retterer, Kyle, Yang, Yaping, Redon, Richard, Katsanis, Nicholas, Rosenfeld, Jill A., Kloetzel, Peter-Michael, Golzio, Christelle, Bézieau, Stéphane, Stankiewicz, Paweł, Isidor, Bertrand
Publicado em 2017Texto