학술논문
'학술논문'
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Academic Journal
Pochiero, Francesca; Mari, Francesco; Ramesh, Venkateswaran; Capra, Valeria; Mancardi, Margherita; Keren, Boris; Mignot, Cyiril; Lulli, Matteo; Parks, Kendall; Griffin, Helen; Brugger, Melanie; Nigro, Vincenzo; Hirata, Yuko; Koichihara, Reiko; Peterlin, Borut; Maki, Ryuto; Nitta, Yohei; Ambrose, John C.; Arumugam, Prabhu; Bevers, Roel; Bleda, Marta; Boardman-Pretty, Freya; Boustred, Christopher R.; Brittain, Helen; Brown, Matthew A.; Caulfield, Mark J.; Chan, Georgia C.; Giess, Adam; Griffin, John N.; Hamblin, Angela; Henderson, Shirley; Hubbard, Tim J.P.; Jackson, Rob; Jones, Louise J.; Kasperaviciute, Dalia; Kayikci, Melis; Kousathanas, Athanasios; Lahnstein, Lea; Lakey, Anna; Leigh, Sarah E.A.; Leong, Ivonne U.S.; Lopez, Javier F.; Maleady-Crowe, Fiona; McEntagart, Meriel; Minneci, Federico; Mitchell, Jonathan; Moutsianas, Loukas; Mueller, Michael; Murugaesu, Nirupa; Need, Anna C.; O’Donovan, Peter; Odhams, Chris A.; Patch, Christine; Perez-Gil, Daniel; Pereira, Marina B.; Pullinger, John; Rahim, Tahrima; Rendon, Augusto; Rogers, Tim; Savage, Kevin; Sawant, Kushmita; Scott, Richard H.; Siddiq, Afshan; Sieghart, Alexander; Smith, Samuel C.; Sosinsky, Alona; Stuckey, Alexander; Tanguy, Mélanie; Taylor Tavares, Ana Lisa; Thomas, Ellen R.A.; Thompson, Simon R.; Tucci, Arianna; Welland, Matthew J.; Williams, Eleanor; Witkowska, Katarzyna; Wood, Suzanne M.; Zarowiecki, Magdalena; Vetro, Annalisa; Pelorosso, Cristiana; Balestrini, Simona; Masi, Alessio; Hambleton, Sophie; Argilli, Emanuela; Conti, Valerio; Giubbolini, Simone; Barrick, Rebekah; Bergant, Gaber; Writzl, Karin; Bijlsma, Emilia K.; Brunet, Theresa; Cacheiro, Pilar; Mei, Davide; Devlin, Anita; Hoffer, Mariëtte J.V.; Machol, Keren; Mannaioni, Guido; Sakamoto, Masamune; Menezes, Manoj P.; Courtin, Thomas; Sherr, Elliott; Parra, Riccardo; Richardson, Ruth; Roscioli, Tony; Scala, Marcello; von Stülpnagel, Celina; Smedley, Damian; Torella, Annalaura; Tohyama, Jun; Hamada, Keisuke; Ogata, Kazuhiro; Suzuki, Takashi; Sugie, Atsushi; van der Smagt, Jasper J.; van Gassen, Koen; Valence, Stephanie; Vittery, Emma; Malone, Stephen; Kato, Mitsuhiro; Matsumoto, Naomichi; Ratto, Gian Michele; Guerrini, Renzo
In The American Journal of Human Genetics 3 August 2023 110(8):1356-1376
Academic Journal
Montomoli, Martino; Vetro, Annalisa; Tubili, Flavia; Donati, Maria Alice; Daniotti, Marta; Pochiero, Francesca; Rivieri, Francesca; Girlando, Salvatore; Guerrini, Renzo
In European Journal of Medical Genetics August 2023 66(8)
Academic Journal
Abbott, Kristin M.; Banka, Siddharth; de Boer, Elke; Ciolfi, Andrea; Clayton-Smith, Jill; Dallapiccola, Bruno; Denommé-Pichon, Anne-Sophie; Faivre, Laurence; Gilissen, Christian; Haack, Tobias B.; Havlovicova, Marketa; Hoischen, Alexander; Jackson, Adam; Kerstjens, Mieke; Kleefstra, Tjitske; Martín, Estrella López; Macek, Milan, Jr.; Matalonga, Leslie; Maystadt, Isabelle; Morleo, Manuela; Nigro, Vicenzo; Pinelli, Michele; Pizzi, Simone; Posada, Manuel; Radio, Francesca C.; Renieri, Alessandra; Riess, Olaf; Rooryck, Caroline; Ryba, Lukas; Agathe, Jean-Madeleine de Sainte; Santen, Gijs W.E.; Schwarz, Martin; Tartaglia, Marco; Thauvin, Christel; Torella, Annalaura; Trimouille, Aurélien; Verloes, Alain; Vissers, Lisenka; Vitobello, Antonio; Votypka, Pavel; Zguro, Kristina; Boer, Elke de; Cohen, Enzo; Danis, Daniel; Gao, Fei; Horvath, Rita; Johari, Mridul; Johanson, Lennart; Li, Shuang; Morsy, Heba; Nelson, Isabelle; Paramonov, Ida; te Paske, Iris B.A.W.; Robinson, Peter; Savarese, Marco; Steyaert, Wouter; Töpf, Ana; van der Velde, Joeri K.; Vandrovcova, Jana; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; Ossowski, Stephan; Demidov, German; Sturm, Marc; Schulze-Hentrich, Julia M.; Schüle, Rebecca; Xu, Jishu; Kessler, Christoph; Wayand, Melanie; Synofzik, Matthis; Wilke, Carlo; Traschütz, Andreas; Schöls, Ludger; Hengel, Holger; Lerche, Holger; Kegele, Josua; Heutink, Peter; Brunner, Han; Scheffer, Hans; Hoogerbrugge, Nicoline; ‘t Hoen, Peter A.C.; Vissers, Lisenka E.L.M.; Sablauskas, Karolis; de Voer, Richarda M.; Kamsteeg, Erik-Jan; van de Warrenburg, Bart; van Os, Nienke; Paske, Iris te; Janssen, Erik; Steehouwer, Marloes; Yaldiz, Burcu; Brookes, Anthony J.; Veal, Colin; Gibson, Spencer; Maddi, Vatsalya; Mehtarizadeh, Mehdi; Riaz, Umar; Warren, Greg; Dizjikan, Farid Yavari; Shorter, Thomas; Straub, Volker; Bettolo, Chiara Marini; Manera, Jordi Diaz; Hambleton, Sophie; Engelhardt, Karin; Alexander, Elizabeth; Duffourd, Yannis; Bruel, Ange-Line; Peyron, Christine; Pélissier, Aurore; Beltran, Sergi; Gut, Ivo Glynne; Laurie, Steven; Piscia, Davide; Papakonstantinou, Anastasios; Bullich, Gemma; Corvo, Alberto; Fernandez-Callejo, Marcos; Hernández, Carles; Picó, Daniel; Lochmüller, Hanns; Gumus, Gulcin; Bros-Facer, Virginie; Rath, Ana; Hanauer, Marc; Lagorce, David; Hongnat, Oscar; Chahdil, Maroua; Lebreton, Emeline; Stevanin, Giovanni; Durr, Alexandra; Davoine, Claire-Sophie; Guillot-Noel, Léna; Heinzmann, Anna; Coarelli, Giulia; Bonne, Gisèle; Evangelista, Teresinha; Allamand, Valérie; Ben Yaou, Rabah; Metay, Corinne; Eymard, Bruno; Atalaia, Antonio; Stojkovic, Tanya; Turnovec, Marek; Thomasová, Dana; Kremliková, Radka Pourová; Franková, Vera; Havlovicová, Markéta; Lišková, Petra; Doležalová, Pavla; Parkinson, Helen; Keane, Thomas; Freeberg, Mallory; Thomas, Coline; Spalding, Dylan; Robert, Glenn; Costa, Alessia; Patch, Christine; Hanna, Mike; Houlden, Henry; Reilly, Mary; Efthymiou, Stephanie; Cali, Elisa; Magrinelli, Francesca; Sisodiya, Sanjay M.; Rohrer, Jonathan; Muntoni, Francesco; Zaharieva, Irina; Sarkozy, Anna; Timmerman, Vincent; Baets, Jonathan; de Vries, Geert; De Winter, Jonathan; Beijer, Danique; de Jonghe, Peter; Van de Vondel, Liedewei; De Ridder, Willem; Weckhuysen, Sarah; Nigro, Vincenzo; Mutarelli, Margherita; Varavallo, Alessandra; Banfi, Sandro; Musacchia, Francesco; Piluso, Giulio; Ferlini, Alessandra; Selvatici, Rita; Gualandi, Francesca; Bigoni, Stefania; Rossi, Rachele; Neri, Marcella; Aretz, Stefan; Spier, Isabel; Sommer, Anna Katharina; Peters, Sophia; Oliveira, Carla; Pelaez, Jose Garcia; Matos, Ana Rita; José, Celina São; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; Swertz, Morris A.; Johansson, Lennart; van der Vries, Gerben; Neerincx, Pieter B.; Ruvolo, David; Kerstjens Frederikse, Wilhemina S.; Zonneveld-Huijssoon, Eveline; Roelofs-Prins, Dieuwke; van Gijn, Marielle; Köhler, Sebastian; Metcalfe, Alison; Drunat, Séverine; Heron, Delphine; Mignot, Cyril; Keren, Boris; Lacombe, Didier; Trimouille, Aurelien; Capella, Gabriel; Valle, Laura; Holinski-Feder, Elke; Laner, Andreas; Steinke-Lange, Verena; Cilio, Maria-Roberta; Carpancea, Evelina; Depondt, Chantal; Lederer, Damien; Sznajer, Yves; Duerinckx, Sarah; Mary, Sandrine; Macaya, Alfons; Cazurro-Gutiérrez, Ana; Pérez-Dueñas, Belén; Munell, Francina; Jarava, Clara Franco; Masó, Laura Batlle; Marcé-Grau, Anna; Colobran, Roger; Hackman, Peter; Udd, Bjarne; Hemelsoet, Dimitri; Dermaut, Bart; Schuermans, Nika; Poppe, Bruce; Verdin, Hannah; Osorio, Andrés Nascimento; Depienne, Christel; Roos, Andreas; Cordts, Isabell; Deschauer, Marcus; Striano, Pasquale; Zara, Federico; Riva, Antonella; Iacomino, Michele; Uva, Paolo; Scala, Marcello; Scudieri, Paolo; Başak, Ayşe Nazlı; Claeys, Kristl; Boztug, Kaan; Haimel, Matthias; W.E, Gijs; Ruivenkamp, Claudia A.L.; Natera de Benito, Daniel; Thompson, Rachel; Polavarapu, Kiran; Grimbacher, Bodo; Zaganas, Ioannis; Kokosali, Evgenia; Lambros, Mathioudakis; Evangeliou, Athanasios; Spilioti, Martha; Kapaki, Elisabeth; Bourbouli, Mara; Radio, Francesca Clementina; Balicza, Peter; Molnar, Maria Judit; De la Paz, Manuel Posada; Sánchez, Eva Bermejo; Delgado, Beatriz Martínez; Alonso García de la Rosa, F. Javier; Schröck, Evelin; Rump, Andreas; Mei, Davide; Vetro, Annalisa; Balestrini, Simona; Guerrini, Renzo; Chinnery, Patrick F.; Ratnaike, Thiloka; Schon, Katherine; Maver, Ales; Peterlin, Borut; Münchau, Alexander; Lohmann, Katja; Herzog, Rebecca; Pauly, Martje; May, Patrick; Beeson, David; Cossins, Judith; Furini, Simone; Fallerini, Chiara; Benetti, Elisa; Afenjar, Alexandra; Goldenberg, Alice; Masurel, Alice; Phan, Alice; Dieux-Coeslier, Anne; Fargeot, Anne; Guerrot, Anne-Marie; Toutain, Annick; Molin, Arnaud; Sorlin, Arthur; Putoux, Audrey; Jouret, Béatrice; Laudier, Béatrice; Demeer, Bénédicte; Doray, Bérénice; Bonniaud, Bertille; Isidor, Bertrand; Gilbert-Dussardier, Brigitte; Leheup, Bruno; Reversade, Bruno; Paul, Carle; Vincent-Delorme, Catherine; Neiva, Cecilia; Poirsier, Céline; Quélin, Chloé; Chiaverini, Christine; Coubes, Christine; Francannet, Christine; Colson, Cindy; Desplantes, Claire; Wells, Constance; Goizet, Cyril; Sanlaville, Damien; Amram, Daniel; Lehalle, Daphné; Geneviève, David; Gaillard, Dominique; Zivi, Einat; Sarrazin, Elisabeth; Steichen, Elisabeth; Schaefer, Élise; Lacaze, Elodie; Jacquemin, Emmanuel; Bongers, Ernie; Kilic, Esra; Colin, Estelle; Giuliano, Fabienne; Prieur, Fabienne; Laffargue, Fanny; Morice-Picard, Fanny; Petit, Florence; Cartault, François; Feillet, François; Baujat, Geneviève; Morin, Gilles; Diene, Gwenaëlle; Journel, Hubert; Perthus, Isabelle; Lespinasse, James; Alessandri, Jean-Luc; Amiel, Jeanne; Martinovic, Jelena; Delanne, Julian; Albuisson, Juliette; Lambert, Laëtitia; Perrin, Laurence; Ousager, Lilian Bomme; Van Maldergem, Lionel; Pinson, Lucile; Ruaud, Lyse; Samimi, Mahtab; Bournez, Marie; Bonnet-Dupeyron, Marie Noëlle; Vincent, Marie; Jacquemont, Marie-Line; Cordier-Alex, Marie-Pierre; Gérard-Blanluet, Marion; Willems, Marjolaine; Spodenkiewicz, Marta; Doco-Fenzy, Martine; Rossi, Massimiliano; Renaud, Mathilde; Fradin, Mélanie; Mathieu, Michèle; Holder-Espinasse, Muriel H.; Houcinat, Nada; Hanna, Nadine; Leperrier, Nathalie; Chassaing, Nicolas; Philip, Nicole; Boute, Odile; Van Kien, Philippe Khau; Parent, Philippe; Bitoun, Pierre; Sarda, Pierre; Vabres, Pierre; Jouk, Pierre-Simon; Touraine, Renaud; El Chehadeh, Salima; Whalen, Sandra; Marlin, Sandrine; Passemard, Sandrine; Grotto, Sarah; Bellanger, Séverine Audebert; Blesson, Sophie; Nambot, Sophie; Naudion, Sophie; Lyonnet, Stanislas; Odent, Sylvie; Attie-Bitach, Tania; Busa, Tiffany; Drouin-Garraud, Valérie; Layet, Valérie; Bizaoui, Varoona; Cusin, Véronica; Capri, Yline; Alembik, Yves; Jean-Marçais, Nolwenn; López-Martín, Estrella; Macek, Milan; Mencarelli, Maria Antonietta; Moutton, Sébastien; Pfundt, Rolph; Safraou, Hana; Thauvin-Robinet, Christel; Thevenon, Julien; Tran Mau-Them, Frédéric; de Vries, Bert B.A.; Willemsen, Marjolein H.; Philippe, Christophe
In Genetics in Medicine April 2023 25(4)
Academic Journal
Ramond, Francis; Dalgliesh, Caroline; Grimmel, Mona; Wechsberg, Oded; Vetro, Annalisa; Guerrini, Renzo; FitzPatrick, David; Poole, Rebecca L.; Lebrun, Marine; Bayat, Allan; Grasshoff, Ute; Bertrand, Miriam; Witt, Dennis; Turnpenny, Peter D.; Faundes, Víctor; Santa María, Lorena; Mendoza Fuentes, Carolina; Mabe, Paulina; Hussain, Shaun A.; Mullegama, Sureni V.; Torti, Erin; Oehl-Jaschkowitz, Barbara; Salmon, Lina Basel; Orenstein, Naama; Shahar, Noa Ruhrman; Hagari, Ofir; Bazak, Lily; Hoffjan, Sabine; Prada, Carlos E.; Haack, Tobias; Elliott, David J.
In Genetics in Medicine April 2023 25(4)
Academic Journal
Zech, Michael; Jech, Robert; Boesch, Sylvia; Škorvánek, Matej; Weber, Sandrina; Wagner, Matias; Zhao, Chen; Jochim, Angela; Necpál, Ján; Dincer, Yasemin; Vill, Katharina; Distelmaier, Felix; Stoklosa, Malgorzata; Krenn, Martin; Grunwald, Stephan; Bock-Bierbaum, Tobias; Fečíková, Anna; Havránková, Petra; Roth, Jan; Příhodová, Iva; Adamovičová, Miriam; Ulmanová, Olga; Bechyně, Karel; Danhofer, Pavlína; Veselý, Branislav; Haň, Vladimír; Pavelekova, Petra; Gdovinová, Zuzana; Mantel, Tobias; Meindl, Tobias; Sitzberger, Alexandra; Schröder, Sebastian; Blaschek, Astrid; Roser, Timo; Bonfert, Michaela V; Haberlandt, Edda; Plecko, Barbara; Leineweber, Birgit; Berweck, Steffen; Herberhold, Thomas; Langguth, Berthold; Švantnerová, Jana; Minár, Michal; Ramos-Rivera, Gonzalo Alonso; Wojcik, Monica H; Pajusalu, Sander; Õunap, Katrin; Schatz, Ulrich A; Pölsler, Laura; Milenkovic, Ivan; Laccone, Franco; Pilshofer, Veronika; Colombo, Roberto; Patzer, Steffi; Iuso, Arcangela; Vera, Julia; Troncoso, Monica; Fang, Fang; Prokisch, Holger; Wilbert, Friederike; Eckenweiler, Matthias; Graf, Elisabeth; Westphal, Dominik S; Riedhammer, Korbinian M; Brunet, Theresa; Alhaddad, Bader; Berutti, Riccardo; Strom, Tim M; Hecht, Martin; Baumann, Matthias; Wolf, Marc; Telegrafi, Aida; Person, Richard E; Zamora, Francisca Millan; Henderson, Lindsay B; Weise, David; Musacchio, Thomas; Volkmann, Jens; Szuto, Anna; Becker, Jessica; Cremer, Kirsten; Sycha, Thomas; Zimprich, Fritz; Kraus, Verena; Makowski, Christine; Gonzalez-Alegre, Pedro; Bardakjian, Tanya M; Ozelius, Laurie J; Vetro, Annalisa; Guerrini, Renzo; Maier, Esther; Borggraefe, Ingo; Kuster, Alice; Wortmann, Saskia B; Hackenberg, Annette; Steinfeld, Robert; Assmann, Birgit; Staufner, Christian; Opladen, Thomas; Růžička, Evžen; Cohn, Ronald D; Dyment, David; Chung, Wendy K; Engels, Hartmut; Ceballos-Baumann, Andres; Ploski, Rafal; Daumke, Oliver; Haslinger, Bernhard; Mall, Volker; Oexle, Konrad; Winkelmann, Juliane
In The Lancet Neurology November 2020 19(11):908-918
Academic Journal
Conti, Valerio; Giubbolini, Simone; Barrick, Rebekah; Bergant, Gaber; Writzl, Karin; Bijlsma, Emilia; Brunet, Theresa; Cacheiro, Pilar; Mei, Davide; Devlin, Anita; Hoffer, Mariëtte; Machol, Keren; Mannaioni, Guido; Sakamoto, Masamune; Menezes, Manoj; Courtin, Thomas; Sherr, Elliott; Parra, Riccardo; Richardson, Ruth; Roscioli, Tony; Scala, Marcello; von Stülpnagel, Celina; Smedley, Damian; Torella, Annalaura; Tohyama, Jun; Koichihara, Reiko; Hamada, Keisuke; Ogata, Kazuhiro; Suzuki, Takashi; Sugie, Atsushi; van der Smagt, Jasper; van Gassen, Koen; Valence, Stephanie; Vittery, Emma; Malone, Stephen; Kato, Mitsuhiro; Matsumoto, Naomichi; Ratto, Gian; Guerrini, Renzo; Vetro, Annalisa; Pelorosso, Cristiana; Balestrini, Simona; Masi, Alessio; Hambleton, Sophie; Argilli, Emanuela
American Journal of Human Genetics. 110(8)
Academic Journal
Errichiello, Edoardo; Vetro, Annalisa; Mina, Tommaso; Wischmeijer, Anita; Berrino, Enrico; Carella, Miriam; Romagnoli, Maria; Sacchini, Patrizia; Venesio, Tiziana; Zecca, Marco; Zuffardi, Orsetta
In Blood Cells, Molecules and Diseases May 2017 64:38-44
Academic Journal
Bersano, Anna ; Zuffardi, Orsetta ; Pantoni, Leonardo ; Quaglini, Silvana ; Ciccone, Roberto ; Vetro, Annalisa ; Persico, Alessandra ; Denaro, Maria Federica ; Micieli, Giuseppe
In Journal of Stroke and Cerebrovascular Diseases April 2015 24(4):759-765
Academic Journal
Andolfo, Immacolata; Alper, Seth L.; De Franceschi, Lucia; Auriemma, Carla; Russo, Roberta; De Falco, Luigia; Vallefuoco, Fara; Esposito, Maria Rosaria; Vandorpe, David H.; Shmukler, Boris E.; Narayan, Rupa; Montanaro, Donatella; D'Armiento, Maria; Vetro, Annalisa; Limongelli, Ivan; Zuffardi, Orsetta; Glader, Bertil E.; Schrier, Stanley L.; Brugnara, Carlo; Stewart, Gordon W.; Delaunay, Jean; Iolascon, Achille
In Blood 9 May 2013 121(19):3925-3935
Academic Journal
Vetro, Annalisa; Manolakos, Emmanouil; Petersen, Michael B.; Thomaidis, Loretta; Liehr, Thomas; Croci, Gianfranco; Franchi, Fabrizia; Marinelli, Maria; Meneghelli, Emanuela; Dal Bello, Babara; Cesari, Stefania; Iasci, Angela; Arrigo, Giulia; Zuffardi, Orsetta
In European Journal of Medical Genetics March 2012 55(3):185-190
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