Zobrazeno 1 - 10
of 1 067
pro vyhledávání: '"A. Vitobello"'
Autor:
Jana Willim, Daniel Woike, Daniel Greene, Sarada Das, Kevin Pfeifer, Weimin Yuan, Anika Lindsey, Omar Itani, Amber L. Böhme, Debora Tibbe, Hans-Hinrich Hönck, Fatemeh Hassani Nia, Undiagnosed Diseases Network, Michael Zech, Theresa Brunet, Laurence Faivre, Arthur Sorlin, Antonio Vitobello, Thomas Smol, Cindy Colson, Kristin Baranano, Krista Schatz, Allan Bayat, Kelly Schoch, Rebecca Spillmann, Erica E. Davis, Erin Conboy, Francesco Vetrini, Konrad Platzer, Sonja Neuser, Janina Gburek-Augustat, Alexandra Noel Grace, Bailey Mitchell, Alexander Stegmann, Margje Sinnema, Naomi Meeks, Carol Saunders, Maxime Cadieux-Dion, Juliane Hoyer, Julien Van-Gils, Jean-Madeleine de Sainte-Agathe, Michelle L. Thompson, E. Martina Bebin, Monika Weisz-Hubshman, Anne-Claude Tabet, Alain Verloes, Jonathan Levy, Xenia Latypova, Sönke Harder, Gary A. Silverman, Stephen C. Pak, Tim Schedl, Kathleen Freson, Andrew Mumford, Ernest Turro, Christian Schlein, Vandana Shashi, Hans-Jürgen Kreienkamp
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-18 (2024)
Abstract Members of the leucine rich repeat (LRR) and PDZ domain (LAP) protein family are essential for animal development and histogenesis. Densin-180, encoded by LRRC7, is the only LAP protein selectively expressed in neurons. Densin-180 is a posts
Externí odkaz:
https://doaj.org/article/fa7e561bde0647a3a38569265135f1c2
Autor:
Maurizio Cecconi, Giulia Goretti, Andrea Pradella, Patrizia Meroni, Martina Pisarra, Guido Torzilli, Marco Montorsi, Antonino Spinelli, Alessandro Zerbi, Carlo Castoro, Paolo Casale, Efrem Civilini, Vittorio Quagliuolo, Marco Klinger, Giuseppe Spriano, Domenico Vitobello, Leonardo Maradei, Bernhard Reimers, Federico Piccioni, Maria Rosaria Martucci, Niccolò Stomeo, Elena Vanni, Marco Babbini, Roberta Monzani, Maria Rosaria Capogreco, Michele Lagioia, Massimiliano Greco
Publikováno v:
Journal of Anesthesia, Analgesia and Critical Care, Vol 4, Iss 1, Pp 1-10 (2024)
Abstract Background Value-based healthcare (VBHC) is an approach that focuses on delivering the highest possible value for patients while driving cost efficiency in health services. It emphasizes improving patient outcomes and experiences while optim
Externí odkaz:
https://doaj.org/article/b6757379fdea43aeb3c5c8287a15aef5
Autor:
Lecoquierre, François, Punt, A. Mattijs, Ebstein, Frédéric, Wallaard, Ilse, Verhagen, Rob, Studencka-Turski, Maja, Duffourd, Yannis, Moutton, Sébastien, Tran Mau-Them, Frédédic, Philippe, Christophe, Dean, John, Tennant, Stephen, Brooks, Alice S., van Slegtenhorst, Marjon A., Jurgens, Julie A., Barry, Brenda J., Chan, Wai-Man, England, Eleina M., Martinez Ojeda, Mayra, Engle, Elizabeth C., Robson, Caroline D., Morrow, Michelle, Innes, A. Micheil, Lamont, Ryan, Sanderson, Matthea, Krüger, Elke, Thauvin, Christel, Distel, Ben, Faivre, Laurence, Elgersma, Ype, Vitobello, Antonio
Publikováno v:
In Genetics in Medicine June 2024 26(6)
Autor:
de Masfrand, Servane, Cogné, Benjamin, Nizon, Mathilde, Deb, Wallid, Goldenberg, Alice, Lecoquierre, François, Nicolas, Gaël, Bournez, Marie, Vitobello, Antonio, Mau-Them, Frédéric Tran, le Guyader, Gwenaël, Bilan, Frédéric, Bauer, Peter, Zweier, Christiane, Piard, Juliette, Pasquier, Laurent, Bézieau, Stéphane, Gerard, Bénédicte, Faivre, Laurence, Saugier-Veber, Pascale, Piton, Amélie, Isidor, Bertrand
Publikováno v:
In European Journal of Medical Genetics June 2024 69
Autor:
Tessarech, Marine, Friocourt, Gaëlle, Marguet, Florent, Lecointre, Maryline, Le Mao, Morgane, Díaz, Rodrigo Muñoz, Mignot, Cyril, Keren, Boris, Héron, Bénédicte, De Bie, Charlotte, Van Gassen, Koen, Loisel, Didier, Delorme, Benoit, Syrbe, Steffen, Klabunde-Cherwon, Annick, Jamra, Rami Abou, Wegler, Meret, Callewaert, Bert, Dheedene, Annelies, Zidane-Marinnes, Merzouka, Guichet, Agnès, Bris, Céline, Van Bogaert, Patrick, Biquard, Florence, Lenaers, Guy, Marcorelles, Pascale, Ferec, Claude, Gonzalez, Bruno, Procaccio, Vincent, Vitobello, Antonio, Bonneau, Dominique, Laquerriere, Annie, Khiati, Salim, Colin, Estelle
Publikováno v:
In Genetics in Medicine May 2024 26(5)
Autor:
Maurizio Cecconi, Giulia Goretti, Andrea Pradella, Patrizia Meroni, Martina Pisarra, Guido Torzilli, Marco Montorsi, Antonino Spinelli, Alessandro Zerbi, Carlo Castoro, Paolo Casale, Efrem Civilini, Vittorio Quagliuolo, Marco Klinger, Giuseppe Spriano, Domenico Vitobello, Leonardo Maradei, Bernhard Reimers, Federico Piccioni, Maria Rosaria Martucci, Niccolò Stomeo, Elena Vanni, Marco Babbini, Roberta Monzani, Maria Rosaria Capogreco, Michele Lagioia, Massimiliano Greco
Publikováno v:
Journal of Anesthesia, Analgesia and Critical Care, Vol 4, Iss 1, Pp 1-1 (2024)
Externí odkaz:
https://doaj.org/article/fd721d32d0dd4916bd8c5f9630845797
Akademický článek
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Autor:
Nishio, Yosuke, Kato, Kohji, Tran Mau-Them, Frederic, Futagawa, Hiroshi, Quélin, Chloé, Masuda, Saori, Vitobello, Antonio, Otsuji, Shiomi, Shawki, Hossam H., Oishi, Hisashi, Thauvin-Robinet, Christel, Takenouchi, Toshiki, Kosaki, Kenjiro, Takahashi, Yoshiyuki, Saitoh, Shinji
Publikováno v:
In Human Genetics and Genomics Advances 12 October 2023 4(4)
Autor:
Boer, Elke de, Cohen, Enzo, Cuesta, Isabel, Danis, Daniel, Denommé-Pichon, Anne-Sophie, Gao, Fei, Gilissen, Christian, Horvath, Rita, Johari, Mridul, Johanson, Lennart, Li, Shuang, Matalonga, Leslie, Morsy, Heba, Nelson, Isabelle, Paramonov, Ida, Paske, Iris B.A.W. te, Robinson, Peter, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, Trimouille, Aurélien, van der Velde, Joeri K., Vandrovcova, Jana, Vitobello, Antonio, Zurek, Birte, Abbot, Kristin M., Banka, Siddharth, Benetti, Elisa, de Boer, Elke, Casari, Giorgio, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Ellwanger, Kornelia, Faivre, Laurence, Graessner, Holm, Haack, Tobias B., Hammarsjö, Anna, Havlovicova, Marketa, Hoischen, Alexander, Hugon, Anne, Jackson, Adam, Kerstjens, Mieke, Kleefstra, Tjitske, Lindstrand, Anna, Martín, Estrella López, Macek, Milan, Jr., Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Nordgren, Ann, Pettersson, Maria, Pinelli, Michele, Pizzi, Simone, Posada, Manuel, Radio, Francesca C., Renieri, Alessandra, Rooryck, Caroline, Ryba, Lukas, Santen, Gijs W.E., Schwarz, Martin, Tartaglia, Marco, Thauvin, Christel, Torella, Annalaura, Verloes, Alain, Vissers, Lisenka, Votypka, Pavel, Vyshka, Klea, Zguro, Kristina, Yaldiz, Burcu, Laurie, Steve, de Reuver, Rick, Kwint, Michael, Pfundt, Rolph, Willemsen, Michèl A.A.P., Vries, Bert B.A. de, Vitobello, A., Vissers, Lisenka E.L.M.
Publikováno v:
In European Journal of Medical Genetics January 2022 65(1)
Autor:
Yosuke Nishio, Kohji Kato, Frederic Tran Mau-Them, Hiroshi Futagawa, Chloé Quélin, Saori Masuda, Antonio Vitobello, Shiomi Otsuji, Hossam H. Shawki, Hisashi Oishi, Christel Thauvin-Robinet, Toshiki Takenouchi, Kenjiro Kosaki, Yoshiyuki Takahashi, Shinji Saitoh
Publikováno v:
HGG Advances, Vol 4, Iss 4, Pp 100238- (2023)
Summary: MYCN, a member of the MYC proto-oncogene family, regulates cell growth and proliferation. Somatic mutations of MYCN are identified in various tumors, and germline loss-of-function variants are responsible for Feingold syndrome, characterized
Externí odkaz:
https://doaj.org/article/500afd5a9bde413c8c9a8ccf0d6652d9