학술논문
'학술논문'
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1~10
Academic Journal
IEEE Transactions on Engineering Management IEEE Trans. Eng. Manage. Engineering Management, IEEE Transactions on. 69(6):3848-3859 Dec, 2022
Conference
Garavelli, B.; Pozzi, P.; Macera, D.; Zanotti, L.; Mencarelli, A.; Bubba, G.; Bertoni, P.; Sammartini, M.; Bettelli, M.; Bertuccio, G.; Ghiringhelli, G.; Zappettini, A.
2019 IEEE Nuclear Science Symposium and Medical Imaging Conference (NSS/MIC) Nuclear Science Symposium and Medical Imaging Conference (NSS/MIC), 2019 IEEE. :1-3 Oct, 2019
Academic Journal
Acosta, Maria T.; Adam, Margaret; Adams, David R.; Alvarez, Raquel L.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Bacino, Carlos A.; Bademci, Guney; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bellen, Hugo J.; Bennett, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Cassini, Thomas; Chang, Ta Chen Peter; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Colley, Heather A.; Cooper, Cynthia M.; Cope, Heidi; Corona, Rosario; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D’Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Dayal, Jyoti G.; Dell'Angelica, Esteban C.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Falk, Marni; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Gahl, William A.; Glass, Ian; Gochuico, Bernadette; Goddard, Page C.; Godfrey, Rena A.; Golden-Grant, Katie; Grajewski, Alana; Hadley, Don; Hahn, Sihoun; Halley, Meghan C.; Hamid, Rizwan; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Hutchison, Sarah; Introne, Wendy; Isasi, Rosario; Izumi, Kosuke; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Jean-Marie, Orpa; Jobanputra, Vaidehi; Karaviti, Lefkothea; Ketkar, Shamika; Kiley, Dana; Kilich, Gonench; Kobren, Shilpa N.; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Kozuira, Mary; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Lalani, Seema R.; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; LeBlanc, Kimberly; Lee, Brendan H.; Levitt, Roy; Lewis, Richard A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Maghiro, AudreyStephannie; Mahoney, Rachel; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martínez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCray, Alexa T.; McGee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo; Mulvihill, John; Nakano-Okuno, Mariko; Nelson, Stanley F.; Newman, John H.; Nicholas, Sarah K.; Nickerson, Deborah; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Palmer, Christina G.S.; Papp, Jeanette C.; Parker, Neil H.; Phillips III, John A.; Posey, Jennifer E.; Potocki, Lorraine; Pusey Swerdzewski, Barbara N.; Quinlan, Aaron; Rao, Deepak A.; Raper, Anna; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenwasser, Natalie; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A.; Scott, C. Ron; Shashi, Vandana; Shin, Jimann; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solnica-Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Kathleen; Sullivan, Jennifer A.; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Queenie K.-G.; Tan, Amelia L.M.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Ungar, Rachel A.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Wallace, Stephanie; Walley, Nicole M.; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Weisz Hubshman, Monika; Wener, Mark; Wenger, Tara; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Worley, Kim; Xiao, Changrui; Yamamoto, Shinya; Yang, John; Zhang, Zhe; Zuchner, Stephan; Nigro, Vincenzo; Torella, Annalaura; Morleo, Manuela; Spampanato, Carmine; Pinelli, Michele; Banfi, Sandro; Varavallo, Alessandra; Selicorni, Angelo; Mariani, Milena; Massimello, Marta; Daolio, Cecilia; Capra, Valeria; Accogli, Andrea; Scala, Marcello; Leuzzi, Vincenzo; Nardecchia, Francesca; Galosi, Serena; Mastrangelo, Mario; Milani, Donatella; Vitiello, Giuseppina; Piluso, Giulio; Romano, Corrado; Failla, Pinella; Greco, Donatella; Pantaleoni, Chiara; Ciaccio, Claudia; D’Arrigo, Stefano; Brunetti Pierri, Nicola; Parenti, Giancarlo; Coppola, Antonietta; Mattina, Teresa; Zollino, Marcella; Amenta, Simona; Tummolo, Albina; Santoro, Claudia; Grandone, Anna; De Brasi, Daniele; Varone, Antonio; Garavelli, Livia; Marini, Carla; Bigoni, Stefania; Piscopo, Carmelo; Trabacca, Antonio; De Rinaldis, Marta; Peron, Angela; Venditti, Rossella; Theodorou, Evangelos; Rosello, Marion; Tirozzi, Alfonsina; Tammaro, Roberta; Al-Badri, Nour; High, Frances A.; Shi, Jiahai; Putti, Elena; Ferrante, Luigi; Cetrangolo, Viviana; Walker, Melissa A.; Tenconi, Romano; Iascone, Maria; Mei, Davide; Guerrini, Renzo; van der Smagt, Jasper; Kroes, Hester Y.; van Gassen, Koen L.I.; Bilal, Muhammad; Umair, Muhammad; Pingault, Veronica; Attie-Bitach, Tania; Amiel, Jeannine; Ejaz, Resham; Rodan, Lance; Agrawal, Pankaj B.; Del Bene, Filippo; Franco, Brunella
In The American Journal of Human Genetics 3 August 2023 110(8):1377-1393
Academic Journal
Gannon, T; Perveen, R; Schlecht, H; Ramsden, S; Anderson, B; Kerr, B; Day, R; Banka, S; Suri, M; Berland, S; Gabbett, M; Ma, A; Lyonnet, S; Cormier-Daire, V; Yilmaz, R; Borck, G; Wieczorek, D; Anderlid, BM; Smithson, S; Vogt, J; Moore-Barton, H; Simsek-Kiper, PO; Maystadt, I; Destree, A; Bucher, J; Angle, B; Mohammed, S; Wakeling, E; Price, S; Singer, A; Sznajer, Y; Toutain, A; Haye, D; Newbury-Ecob, R; Fradin, M; McGaughran, J; Tuysuz, B; Tein, M; Bouman, K; Dabir, T; Van den Ende, J; Luk, HM; Pilz, DT; Eason, J; Davies, S; Reardon, W; Garavelli, L; Zuffardi, O; Devriendt, K; Armstrong, R; Johnson, D; Doco-Fenzy, M; Bijlsma, E; Unger, S; Veenstra-Knol, HE; Kohlhase, J; Lo, IFM; Smith, J; Clayton-Smith, J
European journal of human genetics : EJHG. 23(9):1165-1170
Academic Journal
Head & Face Medicine, Vol 8, Iss Suppl 1, p P8 (2012)
Academic Journal
Caraffi, S.G.; Zuntini, R.; Garavelli, L.; van der Laan, L.; Sadikovic, B.; Rooney, K.; Relator, R.; Haghshenas, S.; Levy, M.A.; Lauzon, C.; McConkey, H.; Trajkova, S.; Brusco, A.; Pavinato, L.; Pullano, V.; Baldo, C.; Mandrile, G.; Cordelli, D.M.; Fetta, A.; Ivanovski, I.; Sukarova, E.; Zollino, M.; Tartaglia, M.; Ferrero, G.B.
In: European Journal of Human Genetics . (European Journal of Human Genetics, June 2024, 32(6):619-629)
Academic Journal
Baga, M.; Spagnoli, C.; Cesaroni, C.A.; Fusco, C.; Ivanovski, I.; Contrò, G.; Caraffi, S.G.; Peluso, F.; Pollazzon, M.; Garavelli, L.; Neri, A.
In: Molecular Syndromology . (Molecular Syndromology, 8 September 2024, 15(1):63-70)
Academic Journal
Frongia, I.; Spagnoli, C.; Rizzi, S.; Frattini, D.; Fusco, C.; Leon, A.; Caraffi, S.G.; Pollazzon, M.; Garavelli, L.; Pisani, F.
In: Journal of Neuromuscular Diseases . (Journal of Neuromuscular Diseases, 2 January 2024, 11(1):213-219)
Academic Journal
Cesaroni, C.A.; Spagnoli, C.; Cancelliere, F.; Stefanini, C.; Frattini, D.; Rizzi, S.; Cavalli, A.; Fusco, C.; Contrò, G.; Caraffi, S.G.; Garavelli, L.; Leon, A.
In: Neurogenetics . (Neurogenetics, 2024)
Academic Journal
Ruault, V.; Ruiz, N.; Coubes, C.; Lehman, N.; Sabbagh, Q.; Willems, M.; Yauy, K.; Geneviève, D.; Burger, P.; Mandel, J.-L.; Gradels-Hauguel, J.; Chaumette, B.; Frenkiel, H.; Martin, D.; Jamra, R.A.; Afenjar, A.; Alembik, Y.; Durand, B.; Gerard, B.; Gouronc, A.; Piton, A.; Alessandri, J.-L.; Ferroul, F.; Arpin, S.; Toutain, A.; Barcia, G.; Daire, V.C.; Lyonnet, S.; Rio, M.; Rondeau, S.; Steffann, J.; Bendová, Š.; Hancarova, M.; Havlovicová, M.; Prchalová, D.; Vlčková, M.; Zelinová, M.; Bruel, A.-L.; Faivre, L.; Garde, A.; Philippe, C.; Thauvin-Robinet, C.; Them, F.T.M.; Kuentz, P.; Charles, P.; Chatron, N.; Dufour, W.; Lesca, G.; Putoux, A.; Rossi, M.; Chopra, M.; Conrad, S.; Doco, M.; Isidor, B.; Nizon, M.; Vincent, M.; Cospain, A.; Fradin, M.; Marçais, N.J.; Coursimault, J.; Goldenberg, A.; Lecoquierre, F.; Nicolas, G.; Saugier-Veber, P.; Delahaye-Duriez, A.; Lamure, V.; Lebre, A.-S.; Engel, C.; Fusco, C.; Garavelli, L.; Pollazzon, M.; Trimarchi, G.; Germanaud, D.; Goujon, L.; Ginglinger, E.; Heron, D.; Keren, B.; Mignot, C.; Koch-Hogrebe, M.; Schmetz, A.; Wieczorek, D.; Neuhann, T.M.; Petit, F.; Ziegler, A.; Sadikovic, B.
In: Molecular Genetics and Genomic Medicine . (Molecular Genetics and Genomic Medicine, January 2024, 12(1))
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