학술논문
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'학술논문'
에서 검색결과 201건 | 목록
1~20
Academic Journal
Küry, Sébastien; Stanton, Janelle E.; van Woerden, Geeske M.; Bosc-Rosati, Amélie; Hsieh, Tzung-Chien; Bray, Lise; Oloudé, Marielle; Rosenfelt, Cory; Scott-Boyer, Marie Pier; Most, Victoria; Wang, Tianyun; Papendorf, Jonas J.; de Konink, Charlotte; Deb, Wallid; Vignard, Virginie; Studencka-Turski, Maja; Besnard, Thomas; Hajdukowicz, Anna M.; Thiel, Franziska G.; Wolfgramm, Sophie; Florenceau, Laëtitia; Cuinat, Silvestre; Marsac, Sylvain; Verrès, Yann; Dangoumau, Audrey; Poirier, Léa; Wentzensen, Ingrid M.; Tuttle, Annabelle; Forster, Cara; Striesow, Johanna; Golnik, Richard; Ortiz, Damara; Jenkins, Laura; Rosenfeld, Jill A.; Ziegler, Alban; Houdayer, Clara; Bonneau, Dominique; Torti, Erin; Begtrup, Amber; Monaghan, Kristin G.; Mullegama, Sureni V.; Volker-Touw, Catharina M. L. Nienke; van Gassen, Koen L. I.; Oegema, Renske; de Pagter, Mirjam S.; Steindl, Katharina; Rauch, Anita; Ivanovski, Ivan; McDonald, Kimberly; Boothe, Emily; Dauber, Andrew; Baker, Janice; Fabie, Noelle Andrea V.; Bernier, Raphael A.; Turner, Tychele N.; Srivastava, Siddharth; Dies, Kira A.; Swanson, Lindsay C.; Costin, Carrie; Abdulrazak, Alali; Jobling, Rebekah K.; Pappas, John; Rabin, Rachel; Niyazov, Dmitriy; Chun-Hui Tsai, Anne; Kovak, Karen; Beck, David B.; Malicdan, May Christine V.; Adams, David R.; Wolfe, Lynne; Ganetzky, Rebecca D.; Muraresku, Colleen C.; Babikyan, Davit; Sedláček, Zdeněk; Hančárová, Miroslava; Timberlake, Andrew T.; Saif, Hind Al; Nestler, Berkley; King, Kayla; Hajianpour, MJ; Costain, Gregory; Prendergast, D’Arcy; Li, Chumei; Geneviève, David; Vitobello, Antonio; Sorlin, Arthur; Philippe, Christophe; Harel, Tamar; Toker, Ori; Sabir, Ataf; Lim, Derek; Hamilton, Mark J.; Bryson, Lisa J.; Cleary, Elaine; Weber, Sacha; Hoffman, Trevor L.; Cueto-González, Anna M.; Tizzano, Eduardo F.; Gómez-Andrés, David; Codina-Solà, Marta; Ververi, Athina; Pavlidou, Efterpi; Lambropoulos, Alexandros; Garganis, Kyriakos; Rio, Marlène; Levy, Jonathan; Langas, Sarah J.; McRae, Anne M.; Lessard, Mathieu K.; D’Agostino, Maria Daniela; De Bie, Isabelle; Wegler, Meret; Abou Jamra, Rami; Kamphausen, Susanne B.; Bothe, Viktoria; Potocki, Lorraine; Olinger, Eric; Sznajer, Yves; Wiame, Elsa; Thompson, Michelle L.; Schroeder, Molly C.; Gooch, Catherine; Smith, Raphael A.; Pandya, Arti; Busch, Larissa M.; Völker, Uwe; Hammer, Elke; Wende, Kristian; Cogné, Benjamin; Isidor, Bertrand; Meiler, Jens; Ripoll, Clémentine; Bigou, Stéphanie; Laumonnier, Frédéric; Hildebrand, Peter W.; Eichler, Evan E.; McWalter, Kirsty; Krawitz, Peter M.; Roux-Dalvai, Florence; Elgersma, Ype; Marcoux, Julien; Bousquet, Marie-Pierre; Droit, Arnaud; Poschmann, Jeremie; Grabrucker, Andreas M.; Bolduc, Francois V.; Bézieau, Stéphane; Ebstein, Frédéric; Krüger, Elke
Nature Communications. 16(1)
Academic Journal
Zhu, Gaofeng, MSc; Didry-Barca, Blaise, MSc; Seabra, Luis, MSc; Rice, Gillian I, PhD; Uggenti, Carolina, PhD; Touimy, Moncef, PharmD; Rodero, Mathieu P, PhD; Trapero, Rolando Hernandez, PhD; Bondet, Vincent, PhD; Duffy, Darragh, PhD; Gautier, Philippe, PhD; Livingstone, Katie, MSc; Sutherland, Fraser J H, MSc; Lebon, Pierre, Prof; Parisot, Mélanie, BSc; Bole-Feysot, Christine, PhD; Masson, Cécile, MSc; Cagnard, Nicolas, MSc; Nitschké, Patrick, PhD; Anderson, Glenn, MSc; Assmann, Birgit, MD; Barth, Magalie, MD; Boespflug-Tanguy, Odile, MD PhD; D’Arco, Felice, MD; Dorboz, Imen, PhD; Giese, Thomas, Prof; Hacohen, Yael, DPhil; Hancarova, Miroslava, PhD; Husson, Marie, MD; Lepine, Anne, MD; Lim, Ming, Prof; Mancardi, Maria Margherita, MD PhD; Melki, Isabelle, MD PhD; Neubauer, David, Prof; Sa, Mario, MD; Sedlacek, Zdenek, Prof; Seitz, Angelika, MD; Rottman, Mika Shapiro, MD PhD; Sanquer, Sylvia, PhD; Straussberg, Rachel, Prof; Vlčková, Markéta, PhD; Villéga, Frédéric, MD PhD; Wagner, Matias, Prof; Zerem, Ayelet, MD; Marsh, Joseph A, Prof; Frémond, Marie-Louise, Prof; Kaliakatsos, Marios, PhD; Crow, Yanick J, Prof; El-Daher, Marie-Thérèse, PhD; Lepelley, Alice, PhD
The Lancet Neurology. 24(3):218-229
Academic Journal
Layo-Carris, Dana E.; Lubin, Emily E.; Sangree, Annabel K.; Clark, Kelly J.; Durham, Emily L.; Gonzalez, Elizabeth M.; Smith, Sarina; Angireddy, Rajesh; Wang, Xiao Min; Weiss, Erin; Toutain, Annick; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Solà, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; Steel, Dora; Kurian, Manju; Barwick, Katy; Carrasco, Diana; Dagli, Aditi I.; Nowaczyk, M. J. M.; Hančárová, Miroslava; Bendová, Šárka; Prchalova, Darina; Sedláček, Zdeněk; Baxová, Alica; Nowak, Catherine Bearce; Douglas, Jessica; Chung, Wendy K.; Longo, Nicola; Platzer, Konrad; Klöckner, Chiara; Averdunk, Luisa; Wieczorek, Dagmar; Krey, Ilona; Zweier, Christiane; Reis, Andre; Balci, Tugce; Simon, Marleen; Kroes, Hester Y.; Wiesener, Antje; Vasileiou, Georgia; Marinakis, Nikolaos M.; Veltra, Danai; Sofocleous, Christalena; Kosma, Konstantina; Traeger Synodinos, Joanne; Voudris, Konstantinos A.; Vuillaume, Marie-Laure; Gueguen, Paul; Derive, Nicolas; Colin, Estelle; Battault, Clarisse; Au, Billie; Delatycki, Martin; Wallis, Mathew; Gallacher, Lyndon; Majdoub, Fatma; Smal, Noor; Weckhuysen, Sarah; Schoonjans, An-Sofie; Kooy, R. Frank; Meuwissen, Marije; Cocanougher, Benjamin T.; Taylor, Kathryn; Pizoli, Carolyn E.; McDonald, Marie T.; James, Philip; Roeder, Elizabeth R.; Littlejohn, Rebecca; Borja, Nicholas A.; Thorson, Willa; King, Kristine; Stoeva, Radka; Suerink, Manon; Nibbeling, Esther; Baskin, Stephanie; L. E. Guyader, Gwenaël; Kaplan, Julie; Muss, Candace; Carere, Deanna Alexis; Bhoj, Elizabeth J. K.; Bryant, Laura M.
European Journal of Human Genetics. 32(8):928-937
Academic Journal
van Oirsouw, Amber S. E.; Nedbalova, Pavla; Hancarova, Miroslava; Prchal, Jan; Prchalova, Darina; Vlckova, Marketa; Bendova, Sarka; Monaghan, Kristin G.; Dyer, Lisa M.; Chen, Yanmin; Carere, Deanna Alexis; te Bogt, Emma A. M.; Fisher, Heather; Scheuerle, Angela E.; Riley, Stephanie; Jain, Mahim; Mu, Weiyi; Bodurtha, Joann N.; van Eerde, Albertien M.; Stokman, Marijn F.; Longo, Nicola; Balasubramanian, Meena; Spiller, Michael; Costain, Gregory; von der Lippe, Charlotte; Tveten, Kristian; Jortveit, Marianne; Holla, Oystein L.; Isidor, Bertrand; Cogne, Benjamin; Glinton, Kevin E.; Vuocolo, Blake; Sierra, Roberta Ann; Angle, Brad; Bontempo, Kelly; Koop, Klaas; Rabin, Rachel; Pappas, John; Staffenberg, David A.; Joset, Pascal; Miny, Peter; Filges, Isabel; Alali, Abdulrazak; Vitalone, Kara; Rosenfeld, Jill A.; Bi, Weimin; Bradbrook, Samuel; Perrier, Renee; Ramanathan, Subhadra; Gold, June-Anne; Bralo, Maria Palomares; Gomez-Cano, Maria Angeles; Olney, Ann Haskins; Nielsen, Shelly; Ziegler, Alban; Bonneau, Dominique; Prouteau, Clement; Bruel, Ange-Line; Caille-Benigni, Charlotte; Lambert, Laetitia; Yu, Andrea C.; Robin, Nathaniel H.; Goodloe, Dana; Fischer, Jan; Porrmann, Joseph; Hennig, Yvonne D.; Jamra, Rami Abou; Herman, Isabella; Johnson, Ivy R.; Herissant, Lucas; Jouret, Guillaume; van Gassen, Koen L. I.; van Binsbergen, Ellen; van der Zwaag, Bert; Kamermans, Alwin; Oegema, Renske; Sedlacek, Zdenek; Fenckova, Michaela; van Jaarsveld, Richard H.
Academic Journal
Dong Li; Qin Wang; Allan Bayat; Mark R. Battig; Yijing Zhou; Daniëlle G.M. Bosch; Gijs van Haaften; Leslie Granger; Andrea K. Petersen; Luis A. Pérez-Jurado; Gemma Aznar-Laín; Anushree Aneja; Miroslava Hancarova; Sarka Bendova; Martin Schwarz; Radka Kremlikova Pourova; Zdenek Sedlacek; Beth A. Keena; Michael E. March; Cuiping Hou; Nora O’Connor; Elizabeth J. Bhoj; Margaret H. Harr; Gabrielle Lemire; Kym M. Boycott; Meghan Towne; Megan Li; Mark Tarnopolsky; Lauren Brady; Michael J. Parker; Hanna Faghfoury; Lea Kristin Parsley; Emanuele Agolini; Maria Lisa Dentici; Antonio Novelli; Meredith Wright; Rachel Palmquist; Khanh Lai; Marcello Scala; Pasquale Striano; Michele Iacomino; Federico Zara; Annina Cooper; Timothy J. Maarup; Melissa Byler; Robert Roger Lebel; Tugce B. Balci; Raymond Louie; Michael Lyons; Jessica Douglas; Catherine Nowak; Alexandra Afenjar; Juliane Hoyer; Boris Keren; Saskia M. Maas; Mahdi M. Motazacker; Julian A. Martinez-Agosto; Ahna M. Rabani; Elizabeth M. McCormick; Marni J. Falk; Sarah M. Ruggiero; Ingo Helbig; Rikke S. Møller; Lino Tessarollo; Francesco Tomassoni Ardori; Mary Ellen Palko; Tzung-Chien Hsieh; Peter M. Krawitz; Mythily Ganapathi; Bruce D. Gelb; Vaidehi Jobanputra; Ashley Wilson; John Greally; Sébastien Jacquemont; Khadijé Jizi; Ange-Line Bruel; Chloé Quelin; Vinod K. Misra; Erika Chick; Corrado Romano; Donatella Greco; Alessia Arena; Manuela Morleo; Vincenzo Nigro; Rie Seyama; Yuri Uchiyama; Naomichi Matsumoto; Ryoji Taira; Katsuya Tashiro; Yasunari Sakai; Gökhan Yigit; Bernd Wollnik; Michael Wagner; Barbara Kutsche; Anna C.E. Hurst; Michelle L. Thompson; Ryan Schmidt; Linda Randolph; Rebecca C. Spillmann; Vandana Shashi; Edward J. Higginbotham; Dawn Cordeiro; Amanda Carnevale; Gregory Costain; Tayyaba Khan; Benoît Funalot; Frederic Tran Mau-Them; Luis Fernandez Garcia Moya; Sixto García-Miñaúr; Matthew Osmond; Lauren Chad; Nada Quercia; Diana Carrasco; Chumei Li; Amarilis Sanchez-Valle; Meghan Kelley; Mathilde Nizon; Brynjar O. Jensson; Patrick Sulem; Kari Stefansson; Svetlana Gorokhova; Tiffany Busa; Marlène Rio; Hamza Hadj Habdallah; Marion Lesieur-Sebellin; Jeanne Amiel; Véronique Pingault; Sandra Mercier; Marie Vincent; Christophe Philippe; Clemence Fatus-Fauconnier; Kathryn Friend; Rebecca K. Halligan; Sunita Biswas; Jane Rosser; Cheryl Shoubridge; Mark Corbett; Christopher Barnett; Jozef Gecz; Kathleen Leppig; Anne Slavotinek; Carlo Marcelis; Rolph Pfundt; Bert B.A. de Vries; Marjon A. van Slegtenhorst; Alice S. Brooks; Benjamin Cogne; Thomas Rambaud; Zeynep Tümer; Elaine H. Zackai; Naiara Akizu; Yuanquan Song; Hakon Hakonarson
J Clin Invest
Population and Environment, 134, 1
Li, D, Wang, Q, Bayat, A, Battig, M R, Zhou, Y, Bosch, D G M, van Haaften, G, Granger, L, Petersen, A K, Pérez-Jurado, L A, Aznar-Laín, G, Aneja, A,Hancarova , M, Bendova, S, Schwarz, M, Pourova, R K, Sedlacek, Z, Keena, B A, March, M E, Hou, C, O’Connor, N, Bhoj, E J, Harr, M H, Lemire, G, Boycott, K M, Towne, M, Li, M, Tarnopolsky, M, Brady, L, Parker, M J, Faghfoury, H, Parsley, L K, Agolini, E, Dentici, M L, Novelli, A, Wright, M, Palmquist, R, Lai, K, Scala, M, Striano, P, Iacomino, M, Zara, F, Cooper, A, Maarup, T J, Byler, M, Lebel, R R, Balci, T B, Louie, R, Lyons, M, Douglas, J, Nowak, C, Afenjar, A, Hoyer, J, Keren, B, Maas, S M, Motazacker, M M, Martinez-Agosto, J A, Rabani, A M, McCormick, E M, Falk, M J, Ruggiero, S M, Helbig, I, Møller, R S, Tessarollo, L, Ardori, F T, Palko, M E, Hsieh, T C, Krawitz, P M, Ganapathi, M, Gelb, B D, Jobanputra, V, Wilson, A, Greally, J, Jacquemont, S, Jizi, K, Bruel, A L, Quelin, C, Misra, V K, Chick, E, Romano, C, Greco, D, Arena, A, Morleo, M, Nigro, V, Seyama, R, Uchiyama, Y, Matsumoto, N, Taira, R, Tashiro, K, Sakai, Y, Yigit, G, Wollnik, B, Wagner, M, Kutsche, B, Hurst, A C E, Thompson, M L, Schmidt, R, Randolph, L, Spillmann, R C, Shashi, V, Higginbotham, E J, Cordeiro, D, Carnevale, A, Costain, G, Khan, T, Funalot, B, Mau-Them, F T, Garcia Moya, L F, García-Miñaúr, S, Osmond, M, Chad, L, Quercia, N, Carrasco, D, Li, C, Sanchez-Valle, A, Kelley, M, Nizon, M, Jensson, B O, Sulem, P, Stefansson, K, Gorokhova, S, Busa, T, Rio, M, Habdallah, H H, Lesieur-Sebellin, M, Amiel, J, Pingault, V, Mercier, S, Vincent, M, Philippe, C, Fatus-Fauconnier, C, Friend, K, Halligan, R K, Biswas, S, Rosser, J, Shoubridge, C, Corbett, M, Barnett, C, Gecz, J, Leppig, K, Slavotinek, A, Marcelis, C, Pfundt, R, de Vries, B B A, van Slegtenhorst, M A, Brooks, A S, Cogne, B, Rambaud, T, Tümer, Z, Zackai, E H, Akizu, N, Song, Y & Hakonarson, H 2024, ' Spliceosome malfunction causes neurodevelopmental disorders with overlapping features ', Journal of Clinical Investigation, vol. 134, no. 1, e171235 . https://doi.org/10.1172/JCI171235
Population and Environment, 134, 1
Li, D, Wang, Q, Bayat, A, Battig, M R, Zhou, Y, Bosch, D G M, van Haaften, G, Granger, L, Petersen, A K, Pérez-Jurado, L A, Aznar-Laín, G, Aneja, A,
Academic Journal
Layo-Carris, Dana E.; Lubin, Emily E.; Sangree, Annabel K.; Clark, Kelly J.; Durham, Emily L.; Gonzalez, Elizabeth M.; Smith, Sarina; Angireddy, Rajesh; Wang, Xiao Min; Weiss, Erin; Toutain, Annick; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Solà, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; Steel, Dora; Kurian, Manju; Barwick, Katy; Carrasco, Diana; Dagli, Aditi I.; Nowaczyk, M. J. M.; Hančárová, Miroslava; Bendová, Šárka; Prchalova, Darina; Sedláček, Zdeněk; Baxová, Alica; Nowak, Catherine Bearce; Douglas, Jessica; Chung, Wendy K.; Longo, Nicola; Platzer, Konrad; Klöckner, Chiara; Averdunk, Luisa; Wieczorek, Dagmar; Krey, Ilona; Zweier, Christiane; Reis, Andre; Balci, Tugce; Simon, Marleen; Kroes, Hester Y.; Wiesener, Antje; Vasileiou, Georgia; Marinakis, Nikolaos M.; Veltra, Danai; Sofocleous, Christalena; Kosma, Konstantina; Synodinos, Joanne Traeger; Voudris, Konstantinos A.; Vuillaume, Marie-Laure; Gueguen, Paul; Derive, Nicolas; Colin, Estelle; Battault, Clarisse; Au, Billie; Delatycki, Martin; Wallis, Mathew; Gallacher, Lyndon; Majdoub, Fatma; Smal, Noor; Weckhuysen, Sarah; Schoonjans, An-Sofie; Kooy, R. Frank; Meuwissen, Marije; Cocanougher, Benjamin T.; Taylor, Kathryn; Pizoli, Carolyn E.; McDonald, Marie T.; James, Philip; Roeder, Elizabeth R.; Littlejohn, Rebecca; Borja, Nicholas A.; Thorson, Willa; King, Kristine; Stoeva, Radka; Suerink, Manon; Nibbeling, Esther; Baskin, Stephanie; Guyader, Gwenaël L. E.; Kaplan, Julie; Muss, Candace; Carere, Deanna Alexis; Bhoj, Elizabeth J. K.; Bryant, Laura M.
European Journal of Human Genetics. 32(8):1032-1032
Academic Journal
David Geneviève; Valentin Ruault; Pauline Burger; Johanna Gradels-Hauguel; Nathalie Ruiz-Pallares; Xtraordinaire Association; Rami Abou Jamra; Alexandra Afenjar; Yves Alembik; Jean-Luc Alessandri; Arpin Stéphanie; Giulia Barcia; Šárka Bendová; Ange-Line Bruel; Perrine Charles; Nicolas Chatron; Maya Chopra; Solène Conrad; Valérie Cormier-Daire; Auriane Cospain; Christine Coubes; Juliette Coursimault; Andrée Delahaye-Duriez; Martine Doco-Fenzy; William Dufour; Benjamin Durand; Camille ENGEL; Laurence Faivre; Fanny Ferroul; Mélanie FRADIN; Hélène Frenkiel; Carlo Fusco; Livia Garavelli; Aurore Garde; Bénédicte Gérard; David Germanaud; Louise Goujon; Aurélie Gouronc; Emmanuelle Ginglinger; Alice Goldenberg; Miroslava Hancarova; Delphine Héron; Bertrand Isidor; Nolwenn Jean Marçais; Boris Keren; Margarete Koch-Hogrebe; Paul Kuentz; Victoria Lamure; Anne-Sophie Lebre; François Lecoquierre; Natacha Lehman; Gaetan Lesca; Stanislas Lyonnet; Delphine Martin; Cyril Mignot; Teresa Neuhann; Gaël Nicolas; Mathilde Nizon; Florence Petit; Christophe Philippe; Amélie Piton; Marzia Pollazzon; Darina Prchalova; Audrey Putoux; Marlène RIO; Sophie Rondeau; Massimiliano Rossi; Quentin Sabbagh; Pascale Saugier-Veber; Ariane Schmetz; Julie Steffann; Christel Thauvin-Robinet; Annick Toutain; Frédéric Tran-Mau-Them; Gabriele Trimarchi; Marie Vincent; Marketa Vlckova; Dagmar Wieczorek; Marjolaine Willems; kevin yauy; Michaela Zelinová; Alban Ziegler; Boris Chaumette; Bekim Sadikovic; Jean-Louis Mandel
Academic Journal
Marketa Vlckova; Darina Prchalova; Pavel Zimmermann; Jana Haberlova; Sarka Bendova; Veronika Moslerova; Viktor Stranecky; Zdenek Sedlacek; Miroslava Hancarova
Molecular Genetics & Genomic Medicine, Vol 11, Iss 6, Pp n/a-n/a (2023)
Academic Journal
Chowdhury, Fuad; Wang, Lei; Al-Raqad, Mohammed; Amor, David J.; Baxová, Alice; Bendová, Šárka; Biamino, Elisa; Brusco, Alfredo; Caluseriu, Oana; Cox, Nancy J.; Froukh, Tawfiq; Gunay-Aygun, Meral; Hančárová, Miroslava; Haynes, Devon; Heide, Solveig; Hoganson, George; Kaname, Tadashi; Keren, Boris; Kosaki, Kenjiro; Kubota, Kazuo; Lemons, Jennifer M.; Magriña, Maria A.; Mark, Paul R.; McDonald, Marie T.; Montgomery, Sarah; Morley, Gina M.; Ohnishi, Hidenori; Okamoto, Nobuhiko; Rodriguez-Buritica, David; Rump, Patrick; Sedláček, Zdeněk; Schatz, Krista; Streff, Haley; Uehara, Tomoko; Walia, Jagdeep S.; Wheeler, Patricia G.; Wiesener, Antje; Zweier, Christiane; Kawakami, Koichi; Wentzensen, Ingrid M.; Lalani, Seema R.; Siu, Victoria M.; Bi, Weimin; Balci, Tugce B.
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(7):1234-1245
Academic Journal
Sarah K, Fiordaliso; Aiko, Iwata-Otsubo; Alyssa L, Ritter; Mathieu, Quesnel-Vallières; Katsunori, Fujiki; Eriko, Nishi; Miroslava, Hancarova; Noriko, Miyake; Jenny E V, Morton; Sangmoon, Lee; Karl, Hackmann; Masashige, Bando; Koji, Masuda; Ryuichiro, Nakato; Michiko, Arakawa; Elizabeth, Bhoj; Dong, Li; Hakon, Hakonarson; Ryojun, Takeda; Margaret, Harr; Beth, Keena; Elaine H, Zackai; Nobuhiko, Okamoto; Seiji, Mizuno; Jung Min, Ko; Alica, Valachova; Darina, Prchalova; Marketa, Vlckova; Tommaso, Pippucci; Christoph, Seiler; Murim, Choi; Naomichi, Matsumoto; Nataliya, Di Donato; Yoseph, Barash; Zdenek, Sedlacek; Katsuhiko, Shirahige; Kosuke, Izumi
The American Journal of Human Genetics. 105:987-995
Academic Journal
Zhu, Gaofeng; Didry-Barca, Blaise; Seabra, Luis; Rice, Gillian, I; Uggenti, Carolina; Touimy, Moncef; Rodero, Mathieu P.; Trapero, Rolando Hernandez; Bondet, Vincent; Duffy, Darragh; Gautier, Philippe; Livingstone, Katie; Sutherland, Fraser J. H.; Lebon, Pierre; Parisot, Melanie; Bole-Feysot, Christine; Masson, Cecile; Cagnard, Nicolas; Nitschke, Patrick; Anderson, Glenn; Assmann, Birgit; Barth, Magalie; Boespflug-Tanguy, Odile; D'Arco, Felice; Dorboz, Imen; Giese, Thomas; Hacohen, Yael; Hancarova, Miroslava; Husson, Marie; Lepine, Anne; Lim, Ming; Mancardi, Maria Margherita; Melki, Isabelle; Neubauer, David; Sa, Mario; Sedlacek, Zdenek; Seitz, Angelika; Rottman, Mika Shapiro; Sanquer, Sylvia; Straussberg, Rachel; Vlckova, Marketa; Villega, Frederic; Wagne, Matias; Zerem, Ayelet; Marsh, Joseph A.; Fremond, Marie-Louise; Kaliakatsos, Marios; Crow, Yanick J.; El-Daher, Marie-Therese; Lepelley, Alice
Academic Journal
Miroslava Hancarova; Marketa Havlovicova; Martina Putzova; Jan Vseticka; Darina Prchalova; Viktor Stranecky; Zdenek Sedlacek
American Journal of Medical Genetics Part A. 179:2119-2123
Academic Journal
Tianyun Wang; Kendra Hoekzema; Davide Vecchio; Huidan Wu; Arvis Sulovari; Bradley P. Coe; Madelyn A. Gillentine; Amy B. Wilfert; Luis A. Perez-Jurado; Malin Kvarnung; Yoeri Sleyp; Rachel K. Earl; Jill A. Rosenfeld; Madeleine R. Geisheker; Lin Han; Bing Du; Chris Barnett; Elizabeth Thompson; Marie Shaw; Renee Carroll; Kathryn Friend; Rachael Catford; Elizabeth E. Palmer; Xiaobing Zou; Jianjun Ou; Honghui Li; Hui Guo; Jennifer Gerdts; Emanuela Avola; Giuseppe Calabrese; Maurizio Elia; Donatella Greco; Anna Lindstrand; Ann Nordgren; Britt-Marie Anderlid; Geert Vandeweyer; Anke Van Dijck; Nathalie Van der Aa; Brooke McKenna; Miroslava Hancarova; Sarka Bendova; Marketa Havlovicova; Giovanni Malerba; Bernardo Dalla Bernardina; Pierandrea Muglia; Arie van Haeringen; Mariette J. V. Hoffer; Barbara Franke; Gerarda Cappuccio; Martin Delatycki; Paul J. Lockhart; Melanie A. Manning; Pengfei Liu; Ingrid E. Scheffer; Nicola Brunetti-Pierri; Nanda Rommelse; David G. Amaral; Gijs W. E. Santen; Elisabetta Trabetti; Zdeněk Sedláček; Jacob J. Michaelson; Karen Pierce; Eric Courchesne; R. Frank Kooy; The SPARK Consortium; Magnus Nordenskjöld; Corrado Romano; Hilde Peeters; Raphael A. Bernier; Jozef Gecz; Kun Xia; Evan E. Eichler
Nature Communications, Vol 11, Iss 1, Pp 1-13 (2020)
Academic Journal
Cappuccio, Gerarda; Sayou, Camille; Tanno, Pauline Le; Tisserant, Emilie; Bruel, Ange-Line; Kennani, Sara El; Sá, Joaquim; Low, Karen J.; Dias, Cristina; Havlovicová, Markéta; Hančárová, Miroslava; Eichler, Evan E.; Devillard, Françoise; Moutton, Sébastien; Van-Gils, Julien; Dubourg, Christèle; Odent, Sylvie; Gerard, Bénédicte; Piton, Amélie; Yamamoto, Toshiyuki; Okamoto, Nobuhiko; Firth, Helen; Metcalfe, Kay; Moh, Anna; Chapman, Kimberly A.; Aref-Eshghi, Erfan; Kerkhof, Jennifer; Torella, Annalaura; Nigro, Vincenzo; Perrin, Laurence; Piard, Juliette; Le Guyader, Gwenaël; Jouan, Thibaud; Thauvin-Robinet, Christel; Duffourd, Yannis; George-Abraham, Jaya K.; Buchanan, Catherine A.; Williams, Denise; Kini, Usha; Wilson, Kate; Sousa, Sérgio B.; Hennekam, Raoul C. M.; Sadikovic, Bekim; Thevenon, Julien; Govin, Jérôme; Vitobello, Antonio; Brunetti-Pierri, Nicola
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 22(11):1838-1850
Academic Journal
Miroslava Hancarova; Marcela Malikova; Michaela Kotrova; Jana Drabova; Marie Trkova; Zdenek Sedlacek
American Journal of Medical Genetics Part A. 176:1438-1442
Academic Journal
BMC Medical Education, Vol 19, Iss 1, Pp 1-8 (2019)
Academic Journal
Zuzana Musova; Miroslava Hancarova; Marketa Havlovicova; Radka Pourova; Michal Hrdlicka; Josef Kraus; Marie Trkova; David Stejkal; Zdenek Sedlacek
Neuropsychiatric Disease and Treatment. 12:2367-2372
Academic Journal
Zuzana Slamova; Lusine Nazaryan-Petersen; Mana M. Mehrjouy; Jana Drabova; Miroslava Hancarova; Tatana Marikova; Drahuse Novotna; Marketa Vlckova; Zdenka Vlckova; Mads Bak; Zuzana Zemanova; Niels Tommerup; Zdenek Sedlacek
Human Mutation. 39:709-716
Academic Journal
Mignot, Cyril; McMahon, Aoife C.; Bar, Claire; Campeau, Philippe M; Davidson, Claire; Buratti, Julien; Nava, Caroline; Jacquemont, Marie-Line; Tallot, Marilyn; Milh, Mathieu; Edery, Patrick; Marzin, Pauline; Barcia, Giulia; Barnerias, Christine; Besmond, Claude; Bienvenu, Thierry; Bruel, Ange-Line; Brunga, Ledia; Ceulemans, Berten; Coubes, Christine; Cristancho, Ana G.; Cunningham, Fiona; Dehouck, Marie-Bertille; Donner, Elizabeth J.; Duban-Bedu, Bénédicte; Dubourg, Christèle; Gardella, Elena; Gauthier, Julie; Geneviève, David; Gobin-Limballe, Stéphanie; Goldberg, Ethan M.; Hagebeuk, Eveline; Hamdan, Fadi F.; Hančárová, Miroslava; Hubert, Laurence; Ioos, Christine; Ichikawa, Shoji; Janssens, Sandra; Journel, Hubert; Kaminska, Anna; Keren, Boris; Koopmans, Marije; Lacoste, Caroline; Laššuthová, Petra; Lederer, Damien; Lehalle, Daphné; Marjanovic, Dragan; Métreau, Julia; Michaud, Jacques L.; Miller, Kathryn; Minassian, Berge A.; Morales, Joannella; Moutard, Marie-Laure; Munnich, Arnold; Ortiz-Gonzalez, Xilma R.; Pinard, Jean-Marc; Prchalová, Darina; Putoux, Audrey; Quelin, Chloé; Rosen, Alyssa R.; Roume, Joelle; Rossignol, Elsa; Simon, Marleen E. H.; Smol, Thomas; Shur, Natasha; Shelihan, Ivan; Štěrbová, Katalin; Vyhnálková, Emílie; Vilain, Catheline; Soblet, Julie; Smits, Guillaume; Yang, Samuel P.; van der Smagt, Jasper J.; van Hasselt, Peter M.; van Kempen, Marjan; Weckhuysen, Sarah; Helbig, Ingo; Villard, Laurent; Héron, Delphine; Koeleman, Bobby; Møller, Rikke S.; Lesca, Gaetan; Helbig, Katherine L.; Nabbout, Rima; Verbeek, Nienke E.; Depienne, Christel
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(4):837-849
Academic Journal
Pavel, Tesner; Marketa, Vlckova; Jana, Drabova; Jan, Vseticka; Anna, Klimova; Jana, Lastuvkova; Jana, Zidovska; Radka, Kremlikova Pourova; Miroslava, Hancarova; Zdenek, Sedlacek; Eduard, Kocarek
Cytogenetic and Genome Research. 154:187-195
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