학술논문
'학술논문'
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1~10
Academic Journal
Zarouchlioti, Christina; Efthymiou, Stephanie; Facchini, Stefano; Dominik, Natalia; Bhattacharyya, Nihar; Liu, Siyin; Costa, Marcos Abreu; Szabo, Anita; Sadan, Amanda N.; Jun, Albert S.; Bugiardini, Enrico; Houlden, Henry; Cortese, Andrea; Skalicka, Pavlina; Dudakova, Lubica; Muthusamy, Kirithika; Cheetham, Michael E.; Hardcastle, Alison J.; Liskova, Petra; Tuft, Stephen J.; Davidson, Alice E.
In eBioMedicine October 2024 108
Academic Journal
Bušányová, Beáta; Vajter, Marie; Kelifová, Silvie; Lišková, Petra; Miková, Hedviga; Breciková, Katarína; Žigmond, Ján; Rogalewicz, Vladimír; Tichopád, Aleš; Višňanský, Martin; Šarkanová, Ivana
In Heliyon 15 June 2024 10(11)
Academic Journal
Patterson, Karynne; Chong, Jessica X.; Chung, Doug D.; Lisch, Walter; Karp, Carol L.; Dreisler, Erling; Lockington, David; Rohrbach, Jens M.; Garczarczyk-Asim, Dorota; Müller, Thomas; Tuft, Stephen J.; Skalicka, Pavlina; Wilnai, Yael; Samra, Nadra Naser; Ibrahim, Ali; Mandel, Hanna; Davidson, Alice E.; Liskova, Petra; Aldave, Anthony J.; Bamshad, Michael J.; Janecke, Andreas R.
In American Journal of Ophthalmology February 2024 258:183-195
Academic Journal
Corradi, Zelia; Khan, Mubeen; Hitti-Malin, Rebekkah; Mishra, Ketan; Whelan, Laura; Cornelis, Stéphanie S.; Hoyng, Carel B.; Kämpjärvi, Kati; Klaver, Caroline C.W.; Liskova, Petra; Stöhr, Heidi; Weber, Bernhard H.F.; Banfi, Sandro; Farrar, G. Jane; Sharon, Dror; Zernant, Jana; Allikmets, Rando; Dhaenens, Claire-Marie; Cremers, Frans P.M.
In Human Genetics and Genomics Advances 12 October 2023 4(4)
Academic Journal
Celiker, Canan; Weissova, Kamila; Cerna, Katerina Amruz; Oppelt, Jan; Dorgau, Birthe; Gambin, Francisco Molina; Sebestikova, Jana; Lako, Majlinda; Sernagor, Evelyne; Liskova, Petra; Barta, Tomas
In iScience 21 July 2023 26(7)
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
Bhattacharyya, Nihar; Chai, Niuzheng; Hafford-Tear, Nathaniel J.; Sadan, Amanda N.; Szabo, Anita; Zarouchlioti, Christina; Jedlickova, Jana; Leung, Szi Kay; Liao, Tianyi; Dudakova, Lubica; Skalicka, Pavlina; Parekh, Mohit; Moghul, Ismail; Jeffries, Aaron R.; Cheetham, Michael E.; Muthusamy, Kirithika; Hardcastle, Alison J.; Pontikos, Nikolas; Liskova, Petra; Tuft, Stephen J.
Academic Journal
Vergaro, Andrea; Pankievic, Monika; Jedlickova, Jana; Dudakova, Lubica; Vajter, Marie; Michaelides, Michel; Meliska, Martin; Nemec, Pavel; Babincova, Daniela; Kousal, Bohdan; Liskova, Petra
Academic Journal
Reurink, Janine; Weisschuh, Nicole; Garanto, Alejandro; Dockery, Adrian; van den Born, L. Ingeborgh; Fajardy, Isabelle; Haer-Wigman, Lonneke; Kohl, Susanne; Wissinger, Bernd; Farrar, G. Jane; Ben-Yosef, Tamar; Pfiffner, Fatma Kivrak; Berger, Wolfgang; Weener, Marianna E.; Dudakova, Lubica; Liskova, Petra; Sharon, Dror; Salameh, Manar; Offenheim, Ashley; Heon, Elise; Girotto, Giorgia; Gasparini, Paolo; Morgan, Anna; Bergen, Arthur A.; ten Brink, Jacoline B.; Klaver, Caroline C.W.; Tranebjærg, Lisbeth; Rendtorff, Nanna D.; Vermeer, Sascha; Smits, Jeroen J.; Pennings, Ronald J.E.; Aben, Marco; Oostrik, Jaap; Astuti, Galuh D.N.; Galbany, Jordi Corominas; Kroes, Hester Y.; Phan, Milan; van Zelst-Stams, Wendy A.G.; Thiadens, Alberta A.H.J.; Verheij, Joke B.G.M.; van Schooneveld, Mary J.; de Bruijn, Suzanne E.; Li, Catherina H.Z.; Hoyng, Carel B.; Gilissen, Christian; Vissers, Lisenka E.L.M.; Cremers, Frans P.M.; Kremer, Hannie; van Wijk, Erwin; Roosing, Susanne
In Human Genetics and Genomics Advances January 2023
Academic Journal
Petzold, Axel ; Fraser, Clare L; Abegg, Mathias; Alroughani, Raed; Alshowaeir, Daniah; Alvarenga, Regina; Andris, Cécile; Asgari, Nasrin; Barnett, Yael; Battistella, Roberto; Behbehani, Raed; Berger, Thomas; Bikbov, Mukharram M; Biotti, Damien; Biousse, Valerie; Boschi, Antonella; Brazdil, Milan; Brezhnev, Andrei; Calabresi, Peter A; Cordonnier, Monique; Costello, Fiona; Cruz, Franz M; Cunha, Leonardo Provetti; Daoudi, Smail; Deschamps, Romain; de Seze, Jerome; Diem, Ricarda; Etemadifar, Masoud; Flores-Rivera, Jose; Fonseca, Pedro; Frederiksen, Jette; Frohman, Elliot; Frohman, Teresa; Tilikete, Caroline Froment; Fujihara, Kazuo; Gálvez, Alberto; Gouider, Riadh; Gracia, Fernando; Grigoriadis, Nikolaos; Guajardo, José M; Habek, Mario; Hawlina, Marko; Martínez-Lapiscina, Elena H; Hooker, Juzar; Hor, Jyh Yung; Howlett, William; Huang-Link, Yumin; Idrissova, Zhannat; Illes, Zsolt; Jancic, Jasna; Jindahra, Panitha; Karussis, Dimitrios; Kerty, Emilia; Kim, Ho Jin; Lagrèze, Wolf; Leocani, Letizia; Levin, Netta; Liskova, Petra; Liu, Yaou; Maiga, Youssoufa; Marignier, Romain; McGuigan, Chris; Meira, Dália; Merle, Harold; Monteiro, Mário L R; Moodley, Anand; Moura, Frederico; Muñoz, Silvia; Mustafa, Sharik; Nakashima, Ichiro; Noval, Susana; Oehninger, Carlos; Ogun, Olufunmilola; Omoti, Afekhide; Pandit, Lekha; Paul, Friedemann; Rebolleda, Gema; Reddel, Stephen; Rejdak, Konrad; Rejdak, Robert; Rodriguez-Morales, Alfonso J; Rougier, Marie-Bénédicte; Sa, Maria Jose; Sanchez-Dalmau, Bernardo; Saylor, Deanna; Shatriah, Ismail; Siva, Aksel; Stiebel-Kalish, Hadas; Szatmary, Gabriella; Ta, Linh; Tenembaum, Silvia; Tran, Huy; Trufanov, Yevgen; van Pesch, Vincent; Wang, An-Guor; Wattjes, Mike P; Willoughby, Ernest; Zakaria, Magd; Zvornicanin, Jasmin; Balcer, Laura; Plant, Gordon T
In The Lancet Neurology December 2022 21(12):1120-1134
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[AR] Lišková, Petra
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