Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes

Autor: Rots, Dmitrijs, Choufani, Sanaa, Faundes, Victor, Dingemans, Alexander J.M., Joss, Shelagh, Foulds, Nicola, Jones, Elizabeth A., Stewart, Sarah, Vasudevan, Pradeep, Dabir, Tabib, Park, Soo-Mi, Jewell, Rosalyn, Brown, Natasha, Pais, Lynn, Jacquemont, Sébastien, Jizi, Khadijé, Ravenswaaij-Arts, Conny M.A. van, Kroes, Hester Y., Stumpel, Constance T.R. M., Ockeloen, Charlotte W., Diets, Illja J., Nizon, Mathilde, Vincent, Marie, Cogné, Benjamin, Besnard, Thomas, Kambouris, Marios, Anderson, Emily, Zackai, Elaine H., McDougall, Carey, Donoghue, Sarah, O'Donnell-Luria, Anne, Valivullah, Zaheer, O'Leary, Melanie, Srivastava, Siddharth, Byers, Heather, Leslie, Nancy, Mazzola, Sarah, Tiller, George E., Vera, Moin, Shen, Joseph J., Boles, Richard, Jain, Vani, Brischoux-Boucher, Elise, Kinning, Esther, Simpson, Brittany N., Giltay, Jacques C., Harris, Jacqueline, Keren, Boris, Guimier, Anne, Marijon, Pierre, Vries, Bert B.A. de, Motter, Constance S., Mendelsohn, Bryce A., Coffino, Samantha, Gerkes, Erica H., Afenjar, Alexandra, Visconti, Paola, Bacchelli, Elena, Maestrini, Elena, Delahaye-Duriez, Andree, Gooch, Catherine, Hendriks, Yvonne, Adams, Hieab, Thauvin-Robinet, Christel, Josephi-Taylor, Sarah, Bertoli, Marta, Parker, Michael J., Rutten, Julie W., Caluseriu, Oana, Vernon, Hilary J., Kaziyev, Jonah, Zhu, Jia, Kremen, Jessica, Frazier, Zoe, Osika, Hailey, Breault, David, Nair, Sreelata, Lewis, Suzanne M.E., Ceroni, Fabiola, Viggiano, Marta, Posar, Annio, Brittain, Helen, Giovanna, Traficante, Giulia, Gori, Quteineh, Lina, Ha-Vinh Leuchter, Russia, Zonneveld-Huijssoon, Evelien, Mellado, Cecilia, Marey, Isabelle, Coudert, Alicia, Aracena Alvarez, Mariana Inés, Kennis, Milou G.P., Bouman, Arianne, Roifman, Maian, Amorós Rodríguez, María Inmaculada, Ortigoza-Escobar, Juan Dario, Vernimmen, Vivian, Sinnema, Margje, Pfundt, Rolph, Brunner, Han G., Vissers, Lisenka E.L.M., Kleefstra, Tjitske, Weksberg, Rosanna, Banka, Siddharth

Publikováno v: In The American Journal of Human Genetics 8 August 2024 111(8):1626-1642

Mandatory vaccination in France: perception by outpatients and self-evaluation of its impact on their vaccine confidence

Autor: Alèthe Mignot, Marion Le Maréchal, Lucie Guimier, Olivier Epaulard

Publikováno v: Human Vaccines & Immunotherapeutics, Vol 17, Iss 11, Pp 4529-4534 (2021)

In France, for many vaccines, vaccine coverage is below the 95% cutoff. One reason is mistrust from a growing proportion of the general population toward vaccination. In 2017, a new law was promulgated, extending the number of mandatory vaccines from

Externí odkaz: https://doaj.org/article/89dcd9e4dacd49eeaf8c603d68a4c094

Electro-clinical features in epileptic children with chromosome 15q duplication syndrome

Autor: Dangles, M.-T., Malan, V., Dumas, G., Romana, S., Raoul, O., Coste-Zeitoun, D., Soufflet, C., Vignolo-Diard, P., Bahi-Buisson, N., Barnérias, C., Chemaly, N., Desguerre, I., Gitiaux, C., Hully, M., Bourgeois, M., Guimier, A., Rio, M., Munnich, A., Nabbout, R., Kaminska, A., Eisermann, M.

Publikováno v: In Clinical Neurophysiology May 2021 132(5):1126-1137

Et Dionysos sortit des flots… Dionysos et la mer sur les mosaïques des salles de réception

Autor: Anne-Marie GUIMIER-SORBETS

Publikováno v: Journal of Mosaic Research, Vol 13, Pp 93-107 (2020)

And Dionysos rose from the waves… Dionysos and the Sea on the Mosaics of Reception Halls Dionysos had to jump into the sea in order to escape from Lycurgos; in another episode, the god was attacked by Tyrrhenian pirates who were transformed into d

Externí odkaz: https://doaj.org/article/0428a61ea6544684977497f66f779748

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