6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies

Autor: Di Benedetto Daniela, Di Vita Giuseppa, Romano Corrado, Giudice Mariangela Lo, Vitello Girolamo Aurelio, Zingale Marinella, Grillo Lucia, Castiglia Lucia, Musumeci Sebastiano Antonino, Fichera Marco

Publikováno v: Molecular Cytogenetics, Vol 6, Iss 1, p 4 (2013)

Abstract Background The interstitial 6p deletions, involving the 6p22-p24 chromosomal region, are rare events characterized by variable phenotypes and no clear genotype-phenotype correlation has been established so far. Results High resolution array-

Externí odkaz: https://doaj.org/article/8da1d79ad8c545dd8130ec170fbffd63

HEP Community White Paper on Software trigger and event reconstruction: Executive Summary

Autor: Albrecht, Johannes, Bloom, Kenneth, Boccali, Tommaso, Boveia, Antonio, De Cian, Michel, Doglioni, Caterina, Dziurda, Agnieszka, Farbin, Amir, Fitzpatrick, Conor, Gaede, Frank, George, Simon, Gligorov, Vladimir, Grasland, Hadrien, Grillo, Lucia, Hegner, Benedikt, Kalderon, William, Kama, Sami, Koppenburg, Patrick, Krutelyov, Slava, Kutschke, Rob, Lampl, Walter, Lange, David, Moyse, Ed, Norman, Andrew, Petric, Marko, Polci, Francesco, Potamianos, Karolos, Ratnikov, Fedor, Raven, Gerhard, Ritter, Martin, Rizzi, Andrea, Rodrigues, Eduardo, Rousseau, David, Salzburger, Andy, Kennedy, Liz Sexton, Sokoloff, Michael D, Stewart, Graeme, Ustyuzhanin, Andrey, Viren, Brett, Williams, Mike, Winklmeier, Frank, Wuerthwein, Frank

Realizing the physics programs of the planned and upgraded high-energy physics (HEP) experiments over the next 10 years will require the HEP community to address a number of challenges in the area of software and computing. For this reason, the HEP s

Externí odkaz: http://arxiv.org/abs/1802.08640

A Roadmap for HEP Software and Computing R&D for the 2020s

Autor: Albrecht, Johannes, Alves Jr, Antonio Augusto, Amadio, Guilherme, Andronico, Giuseppe, Anh-Ky, Nguyen, Aphecetche, Laurent, Apostolakis, John, Asai, Makoto, Atzori, Luca, Babik, Marian, Bagliesi, Giuseppe, Bandieramonte, Marilena, Banerjee, Sunanda, Barisits, Martin, Bauerdick, Lothar A. T., Belforte, Stefano, Benjamin, Douglas, Bernius, Catrin, Bhimji, Wahid, Bianchi, Riccardo Maria, Bird, Ian, Biscarat, Catherine, Blomer, Jakob, Bloom, Kenneth, Boccali, Tommaso, Bockelman, Brian, Bold, Tomasz, Bonacorsi, Daniele, Boveia, Antonio, Bozzi, Concezio, Bracko, Marko, Britton, David, Buckley, Andy, Buncic, Predrag, Calafiura, Paolo, Campana, Simone, Canal, Philippe, Canali, Luca, Carlino, Gianpaolo, Castro, Nuno, Cattaneo, Marco, Cerminara, Gianluca, Villanueva, Javier Cervantes, Chang, Philip, Chapman, John, Chen, Gang, Childers, Taylor, Clarke, Peter, Clemencic, Marco, Cogneras, Eric, Coles, Jeremy, Collier, Ian, Colling, David, Corti, Gloria, Cosmo, Gabriele, Costanzo, Davide, Couturier, Ben, Cranmer, Kyle, Cranshaw, Jack, Cristella, Leonardo, Crooks, David, Crépé-Renaudin, Sabine, Currie, Robert, Dallmeier-Tiessen, Sünje, De, Kaushik, De Cian, Michel, De Roeck, Albert, Peris, Antonio Delgado, Derue, Frédéric, Di Girolamo, Alessandro, Di Guida, Salvatore, Dimitrov, Gancho, Doglioni, Caterina, Dotti, Andrea, Duellmann, Dirk, Duflot, Laurent, Dykstra, Dave, Dziedziniewicz-Wojcik, Katarzyna, Dziurda, Agnieszka, Egede, Ulrik, Elmer, Peter, Elmsheuser, Johannes, Elvira, V. Daniel, Eulisse, Giulio, Farrell, Steven, Ferber, Torben, Filipcic, Andrej, Fisk, Ian, Fitzpatrick, Conor, Flix, José, Formica, Andrea, Forti, Alessandra, Franzoni, Giovanni, Frost, James, Fuess, Stu, Gaede, Frank, Ganis, Gerardo, Gardner, Robert, Garonne, Vincent, Gellrich, Andreas, Genser, Krzysztof, George, Simon, Geurts, Frank, Gheata, Andrei, Gheata, Mihaela, Giacomini, Francesco, Giagu, Stefano, Giffels, Manuel, Gingrich, Douglas, Girone, Maria, Gligorov, Vladimir V., Glushkov, Ivan, Gohn, Wesley, Lopez, Jose Benito Gonzalez, Caballero, Isidro González, Fernández, Juan R. González, Govi, Giacomo, Grandi, Claudio, Grasland, Hadrien, Gray, Heather, Grillo, Lucia, Guan, Wen, Gutsche, Oliver, Gyurjyan, Vardan, Hanushevsky, Andrew, Hariri, Farah, Hartmann, Thomas, Harvey, John, Hauth, Thomas, Hegner, Benedikt, Heinemann, Beate, Heinrich, Lukas, Heiss, Andreas, Hernández, José M., Hildreth, Michael, Hodgkinson, Mark, Hoeche, Stefan, Holzman, Burt, Hristov, Peter, Huang, Xingtao, Ivanchenko, Vladimir N., Ivanov, Todor, Iven, Jan, Jashal, Brij, Jayatilaka, Bodhitha, Jones, Roger, Jouvin, Michel, Jun, Soon Yung, Kagan, Michael, Kalderon, Charles William, Kane, Meghan, Karavakis, Edward, Katz, Daniel S., Kcira, Dorian, Keeble, Oliver, Kersevan, Borut Paul, Kirby, Michael, Klimentov, Alexei, Klute, Markus, Komarov, Ilya, Konstantinov, Dmitri, Koppenburg, Patrick, Kowalkowski, Jim, Kreczko, Luke, Kuhr, Thomas, Kutschke, Robert, Kuznetsov, Valentin, Lampl, Walter, Lancon, Eric, Lange, David, Lassnig, Mario, Laycock, Paul, Leggett, Charles, Letts, James, Lewendel, Birgit, Li, Teng, Lima, Guilherme, Linacre, Jacob, Linden, Tomas, Livny, Miron, Presti, Giuseppe Lo, Lopienski, Sebastian, Love, Peter, Lyon, Adam, Magini, Nicolò, Marshall, Zachary L., Martelli, Edoardo, Martin-Haugh, Stewart, Mato, Pere, Mazumdar, Kajari, McCauley, Thomas, McFayden, Josh, McKee, Shawn, McNab, Andrew, Mehdiyev, Rashid, Meinhard, Helge, Menasce, Dario, Lorenzo, Patricia Mendez, Mete, Alaettin Serhan, Michelotto, Michele, Mitrevski, Jovan, Moneta, Lorenzo, Morgan, Ben, Mount, Richard, Moyse, Edward, Murray, Sean, Nairz, Armin, Neubauer, Mark S., Norman, Andrew, Novaes, Sérgio, Novak, Mihaly, Oyanguren, Arantza, Ozturk, Nurcan, Pages, Andres Pacheco, Paganini, Michela, Pansanel, Jerome, Pascuzzi, Vincent R., Patrick, Glenn, Pearce, Alex, Pearson, Ben, Pedro, Kevin, Perdue, Gabriel, Yzquierdo, Antonio Perez-Calero, Perrozzi, Luca, Petersen, Troels, Petric, Marko, Petzold, Andreas, Piedra, Jónatan, Piilonen, Leo, Piparo, Danilo, Pivarski, Jim, Pokorski, Witold, Polci, Francesco, Potamianos, Karolos, Psihas, Fernanda, Navarro, Albert Puig, Quast, Günter, Raven, Gerhard, Reuter, Jürgen, Ribon, Alberto, Rinaldi, Lorenzo, Ritter, Martin, Robinson, James, Rodrigues, Eduardo, Roiser, Stefan, Rousseau, David, Roy, Gareth, Rybkine, Grigori, Sailer, Andre, Sakuma, Tai, Santana, Renato, Sartirana, Andrea, Schellman, Heidi, Schovancová, Jaroslava, Schramm, Steven, Schulz, Markus, Sciabà, Andrea, Seidel, Sally, Sekmen, Sezen, Serfon, Cedric, Severini, Horst, Sexton-Kennedy, Elizabeth, Seymour, Michael, Sgalaberna, Davide, Shapoval, Illya, Shiers, Jamie, Shiu, Jing-Ge, Short, Hannah, Siroli, Gian Piero, Skipsey, Sam, Smith, Tim, Snyder, Scott, Sokoloff, Michael D., Spentzouris, Panagiotis, Stadie, Hartmut, Stark, Giordon, Stewart, Gordon, Stewart, Graeme A., Sánchez, Arturo, Sánchez-Hernández, Alberto, Taffard, Anyes, Tamponi, Umberto, Templon, Jeff, Tenaglia, Giacomo, Tsulaia, Vakhtang, Tunnell, Christopher, Vaandering, Eric, Valassi, Andrea, Vallecorsa, Sofia, Valsan, Liviu, Van Gemmeren, Peter, Vernet, Renaud, Viren, Brett, Vlimant, Jean-Roch, Voss, Christian, Votava, Margaret, Vuosalo, Carl, Sierra, Carlos Vázquez, Wartel, Romain, Watts, Gordon T., Wenaus, Torre, Wenzel, Sandro, Williams, Mike, Winklmeier, Frank, Wissing, Christoph, Wuerthwein, Frank, Wynne, Benjamin, Xiaomei, Zhang, Yang, Wei, Yazgan, Efe

Publikováno v: Comput Softw Big Sci (2019) 3, 7

Particle physics has an ambitious and broad experimental programme for the coming decades. This programme requires large investments in detector hardware, either to build new facilities and experiments, or to upgrade existing ones. Similarly, it requ

Externí odkaz: http://arxiv.org/abs/1712.06982

Autosomal recessive spino-cerebellar ataxia type 10 (SCAR10): clinical presentation associated with c.289delA ANO10 gene variant.

Autor: Norata, Davide, Alonge, Paolo, Grillo, Lucia, Calì, Francesco, Sturnio, Maurizio, Lupica, Antonino, Costa, Vanessa, Brighina, Filippo, Di Stefano, Vincenzo

Publikováno v: Neurological Sciences; Mar2024, Vol. 45 Issue 3, p1283-1286, 4p

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