학술논문
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'학술논문'
에서 검색결과 201건 | 목록
1~20
Academic Journal
Sébastien Küry; Janelle E. Stanton; Geeske M. van Woerden; Amélie Bosc-Rosati; Tzung-Chien Hsieh; Lise Bray; Marielle Oloudé; Cory Rosenfelt; Marie Pier Scott-Boyer; Victoria Most; Tianyun Wang; Jonas J. Papendorf; Charlotte de Konink; Wallid Deb; Virginie Vignard; Maja Studencka-Turski; Thomas Besnard; Anna M. Hajdukowicz; Franziska G. Thiel; Sophie Wolfgramm; Laëtitia Florenceau; Silvestre Cuinat; Sylvain Marsac; Yann Verrès; Audrey Dangoumau; Léa Poirier; Ingrid M. Wentzensen; Annabelle Tuttle; Cara Forster; Johanna Striesow; Richard Golnik; Damara Ortiz; Laura Jenkins; Jill A. Rosenfeld; Alban Ziegler; Clara Houdayer; Dominique Bonneau; Erin Torti; Amber Begtrup; Kristin G. Monaghan; Sureni V. Mullegama; Catharina M. L. Nienke Volker-Touw; Koen L. I. van Gassen; Renske Oegema; Mirjam S. de Pagter; Katharina Steindl; Anita Rauch; Ivan Ivanovski; Kimberly McDonald; Emily Boothe; Andrew Dauber; Janice Baker; Noelle Andrea V. Fabie; Raphael A. Bernier; Tychele N. Turner; Siddharth Srivastava; Kira A. Dies; Lindsay C. Swanson; Carrie Costin; Alali Abdulrazak; Rebekah K. Jobling; John Pappas; Rachel Rabin; Dmitriy Niyazov; Anne Chun-Hui Tsai; Karen Kovak; David B. Beck; May Christine V. Malicdan; David R. Adams; Lynne Wolfe; Rebecca D. Ganetzky; Colleen C. Muraresku; Davit Babikyan; Zdeněk Sedláček; Miroslava Hančárová; Andrew T. Timberlake; Hind Al Saif; Berkley Nestler; Kayla King; MJ Hajianpour; Gregory Costain; D’Arcy Prendergast; Chumei Li; David Geneviève; Antonio Vitobello; Arthur Sorlin; Christophe Philippe; Tamar Harel; Ori Toker; Ataf Sabir; Derek Lim; Mark J. Hamilton; Lisa J. Bryson; Elaine Cleary; Sacha Weber; Trevor L. Hoffman; Anna M. Cueto-González; Eduardo F. Tizzano; David Gómez-Andrés; Marta Codina-Solà; Athina Ververi; Efterpi Pavlidou; Alexandros Lambropoulos; Kyriakos Garganis; Marlène Rio; Jonathan Levy; Sarah J. Langas; Anne M. McRae; Mathieu K. Lessard; Maria Daniela D’Agostino; Isabelle De Bie; Meret Wegler; Rami Abou Jamra; Susanne B. Kamphausen; Viktoria Bothe; Lorraine Potocki; Eric Olinger; Yves Sznajer; Elsa Wiame; Michelle L. Thompson; Molly C. Schroeder; Catherine Gooch; Raphael A. Smith; Arti Pandya; Larissa M. Busch; Uwe Völker; Elke Hammer; Kristian Wende; Benjamin Cogné; Bertrand Isidor; Jens Meiler; Clémentine Ripoll; Stéphanie Bigou; Frédéric Laumonnier; Peter W. Hildebrand; Evan E. Eichler; Kirsty McWalter; Peter M. Krawitz; Florence Roux-Dalvai; Ype Elgersma; Julien Marcoux; Marie-Pierre Bousquet; Arnaud Droit; Jeremie Poschmann; Andreas M. Grabrucker; Francois V. Bolduc; Stéphane Bézieau; Frédéric Ebstein; Elke Krüger
Nature Communications, Vol 16, Iss 1, Pp 1-21 (2025)
Academic Journal
Zhu, Gaofeng; Didry-Barca, Blaise; Seabra, Luis; Rice, Gillian; Uggenti, Carolina; Touimy, Moncef; Rodero, Mathieu P; Trapero, Rolando Hernandez; Bondet, Vincent; Duffy, Darragh; Gautier, Philippe; Livingstone, Katie; Sutherland, Fraser; Lebon, Pierre; Parisot, Mélanie; Bole-Feysot, Christine; Masson, Cécile; Cagnard, Nicolas; Nitschké, 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; Vlčková, Markéta; Villéga, Frédéric; Wagner, Matias; Zerem, Ayelet; Marsh, Joseph; Frémond, Marie-Louise; Kaliakatsos, Marios; Crow, Yanick; El-Daher, Marie-Thérèse; Lepelley, Alice
Lancet Neurol
Zhu, G, Didry-Barca, B, Seabra, L, Rice, G I, Uggenti, C, Touimy, M, Rodero, M P, Trapero, R H, Bondet, V, Duffy, D, Gautier, P, Livingstone, K, Sutherland, F J H, Lebon, P, Parisot, M, Bole-Feysot, C, Masson, C, Cagnard, N, Nitschké, P, Anderson, G, Assmann, B, Barth, M, Boespflug-Tanguy, O, D'Arco, F, Dorboz, I, Giese, T, Hacohen, Y,Hancarova , M, Husson, M, Lepine, A, Lim, M, Mancardi, M M, Melki, I, Neubauer, D, Sa, M, Sedlacek, Z, Seitz, A, Rottman, M S, Sanquer, S, Straussberg, R, Vlčková, M, Villéga, F, Wagner, M, Zerem, A, Marsh, J A, Frémond, M-L, Kaliakatsos, M, Crow, Y J, El-Daher, M-T & Lepelley, A 2025, 'Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency : a case series', The Lancet. Neurology, vol. 24, no. 3, pp. 218-229. https://doi.org/10.1016/S1474-4422(24)00526-X
The Lancet Neurology
Zhu, G, Didry-Barca, B, Seabra, L, Rice, G I, Uggenti, C, Touimy, M, Rodero, M P, Trapero, R H, Bondet, V, Duffy, D, Gautier, P, Livingstone, K, Sutherland, F J H, Lebon, P, Parisot, M, Bole-Feysot, C, Masson, C, Cagnard, N, Nitschké, P, Anderson, G, Assmann, B, Barth, M, Boespflug-Tanguy, O, D'Arco, F, Dorboz, I, Giese, T, Hacohen, Y,
The Lancet Neurology
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 ; Lippe, Charlotte von der ; Tveten, Kristian ; Jortveit, Marianne ; Holla, Øystein L. ; Isidor, Bertrand ; Cogné, 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, María Palomares ; Gómez-Cano, María Ángeles ; Olney, Ann Haskins ; Nielsen, Shelly ; Ziegler, Alban ; Bonneau, Dominique ; Prouteau, Clément ; Bruel, Ange-Line ; Caille-Benigni, Charlotte ; Lambert, Laëtitia ; Yu, Andrea C. ; Robin, Nathaniel H. ; Goodloe, Dana ; Fischer, Jan ; Porrmann, Joseph ; Hennig, Yvonne D. ; Jamra, Rami Abou ; Herman, Isabella ; Johnson, Ivy R. ; Hérissant, 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.
In Genetics in Medicine August 2025
Academic Journal
Ruault, Valentin; Burger, Pauline; Gradels-Hauguel, Johanna; Ruiz, Nathalie; Jamra, Rami Abou; Afenjar, Alexandra; Alembik, Yves; Alessandri, Jean‐luc; Arpin, Stéphanie; Barcia, Giulia; Bendová, Šárka; Bruel, Ange‐line; Charles, Perrine; Chatron, Nicolas; Chopra, Maya; Conrad, Solène; Daire, Valérie Cormier; Cospain, Auriane; Coubes, Christine; Coursimault, Juliette; Delahaye-Duriez, Andrée; Doco, Martine; Dufour, William; Durand, Benjamin; Engel, Camille; Faivre, Laurence; Ferroul, Fanny; Fradin, Mélanie; Frenkiel, Hélène; Fusco, Carlo; Garavelli, Livia; Garde, Aurore; Gerard, Bénédicte; Germanaud, David; Goujon, Louise; Gouronc, Aurélie; Ginglinger, Emmanuelle; Goldenberg, Alice; Hancarova, Miroslava; Havlovicová, Markéta; Heron, Delphine; Isidor, Bertrand; Marçais, Nolwenn Jean; Keren, Boris; Koch-Hogrebe, Margarete; Kuentz, Paul; Lamure, Victoria; Lebre, Anne‐sophie; Lecoquierre, François; Lehman, Natacha; Lesca, Gaetan; Lyonnet, Stanislas; Martin, Delphine; Mignot, Cyril; Neuhann, Teresa, M; Nicolas, Gaël; Nizon, Mathilde; Petit, Florence; Philippe, Christophe; Piton, Amélie; Pollazzon, Marzia; Prchalová, Darina; Putoux, Audrey; Rio, Marlène; Rondeau, Sophie; Rossi, Massimiliano; Sabbagh, Quentin; Saugier-Veber, Pascale; Schmetz, Ariane; Steffann, Julie; Thauvin-Robinet, Christel; Toutain, Annick; Them, Frederic Tran Mau; Trimarchi, Gabriele; Vincent, Marie; Vlčková, Markéta; Wieczorek, Dagmar; Willems, Marjolaine; Yauy, Kevin; Zelinová, Michaela; Ziegler, Alban; Chaumette, Boris; Sadikovic, Bekim; Mandel, Jean‐louis; Geneviève, David; Ithaca, ERN
Mol Genet Genomic Med
Academic Journal
Jeanne, Médéric; Demory, Hélène; Moutal, Aubin; Vuillaume, Marie-Laure; Blesson, Sophie; Thépault, Rose-Anne; Marouillat, Sylviane; Halewa, Judith; Maas, Saskia M; Motazacker, M Mahdi; Mancini, Grazia M S; van Slegtenhorst, Marjon A; Andreou, Avgi; Cox, Helene; Vogt, Julie; Laufman, Jason; Kostandyan, Natella; Babikyan, Davit; Hancarova, Miroslava; Bendova, Sarka; Sedlacek, Zdenek; Aldinger, Kimberly A; Sherr, Elliott H; Argilli, Emanuela; England, Eleina M; Audebert-Bellanger, Séverine; Bonneau, Dominique; Colin, Estelle; Denommé-Pichon, Anne-Sophie; Gilbert-Dussardier, Brigitte; Isidor, Bertrand; Küry, Sebastien; Odent, Sylvie; Redon, Richard; Khanna, Rajesh; Dobyns, William B; Bézieau, Stéphane; Honnorat, Jérôme; Lohkamp, Bernhard; Toutain, Annick; Laumonnier, Frédéric
American Journal of Human Genetics, vol 108, iss 5
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
The Journal of Clinical Investigation, Vol 134, Iss 1 (2024)
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.
In Genetics in Medicine July 2021 23(7):1234-1245
Academic Journal
Voisin, Norine ; Schnur, Rhonda E. ; Douzgou, Sofia ; Hiatt, Susan M. ; Rustad, Cecilie F. ; Brown, Natasha J. ; Earl, Dawn L. ; Keren, Boris ; Levchenko, Olga ; Geuer, Sinje ; Verheyen, Sarah ; Johnson, Diana ; Zarate, Yuri A. ; Hančárová, Miroslava ; Amor, David J. ; Bebin, E. Martina ; Blatterer, Jasmin ; Brusco, Alfredo ; Cappuccio, Gerarda ; Charrow, Joel ; Chatron, Nicolas ; Cooper, Gregory M. ; Courtin, Thomas ; Dadali, Elena ; Delafontaine, Julien ; Del Giudice, Ennio ; Doco, Martine ; Douglas, Ganka ; Eisenkölbl, Astrid ; Funari, Tara ; Giannuzzi, Giuliana ; Gruber-Sedlmayr, Ursula ; Guex, Nicolas ; Heron, Delphine ; Holla, Øystein L. ; Hurst, Anna C.E. ; Juusola, Jane ; Kronn, David ; Lavrov, Alexander ; Lee, Crystle ; Lorrain, Séverine ; Merckoll, Else ; Mikhaleva, Anna ; Norman, Jennifer ; Pradervand, Sylvain ; Prchalová, Darina ; Rhodes, Lindsay ; Sanders, Victoria R. ; Sedláček, Zdeněk ; Seebacher, Heidelis A. ; Sellars, Elizabeth A. ; Sirchia, Fabio ; Takenouchi, Toshiki ; Tanaka, Akemi J. ; Taska-Tench, Heidi ; Tønne, Elin ; Tveten, Kristian ; Vitiello, Giuseppina ; Vlčková, Markéta ; Uehara, Tomoko ; Nava, Caroline ; Yalcin, Binnaz ; Kosaki, Kenjiro ; Donnai, Dian ; Mundlos, Stefan ; Brunetti-Pierri, Nicola ; Chung, Wendy K. ; Reymond, Alexandre
In The American Journal of Human Genetics 6 May 2021 108(5):857-873
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
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 ; Brunetti-Pierri, Nicola ; Casari, Giorgio ; Pinelli, Michele ; Musacchia, Francesco ; Mutarelli, Margherita ; Carrella, Diego ; Vitiello, Giuseppina ; Capra, Valeria ; Parenti, Giancarlo ; Leuzzi, Vincenzo ; Selicorni, Angelo ; Maitz, Silvia ; Banfi, Sandro ; Zollino, Marcella ; Montomoli, Mario ; Milani, Donatelli ; Romano, Corrado ; Tummolo, Albina ; De Brasi, Daniele ; Coppola, Antonietta ; Santoro, Claudia ; Peron, Angela ; Pantaleoni, Chiara ; Castello, Raffaele ; D’Arrigo, Stefano ; Sousa, Sérgio B. ; Hennekam, Raoul C.M. ; Sadikovic, Bekim ; Thevenon, Julien ; Govin, Jérôme ; Vitobello, Antonio
In Genetics in Medicine November 2020 22(11):1838-1850
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
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
Haijes, Hanneke A. ; Koster, Maria J.E. ; Rehmann, Holger ; Li, Dong ; Hakonarson, Hakon ; Cappuccio, Gerarda ; Hancarova, Miroslava ; Lehalle, Daphne ; Reardon, Willie ; Schaefer, G. Bradley ; Lehman, Anna ; van de Laar, Ingrid M.B.H. ; Tesselaar, Coranne D. ; Turner, Clesson ; Goldenberg, Alice ; Patrier, Sophie ; Thevenon, Julien ; Pinelli, Michele ; Brunetti-Pierri, Nicola ; Prchalová, Darina ; Havlovicová, Markéta ; Vlckova, Markéta ; Sedláček, Zdeněk ; Lopez, Elena ; Ragoussis, Vassilis ; Pagnamenta, Alistair T. ; Kini, Usha ; Vos, Harmjan R. ; van Es, Robert M. ; van Schaik, Richard F.M.A. ; van Essen, Ton A.J. ; Kibaek, Maria ; Taylor, Jenny C. ; Sullivan, Jennifer ; Shashi, Vandana ; Petrovski, Slave ; Fagerberg, Christina ; Martin, Donna M. ; van Gassen, Koen L.I. ; Pfundt, Rolph ; Falk, Marni J. ; McCormick, Elizabeth M. ; Timmers, H.T. Marc ; van Hasselt, Peter M.
In The American Journal of Human Genetics 1 August 2019 105(2):283-301
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
In Genetics in Medicine April 2019 21(4):837-849
Academic Journal
BMC Medical Education, Vol 19, Iss 1, Pp 1-8 (2019)
Academic Journal
Meerschaut, Ilse; Rochefort, Daniel; Revençu, Nicole; Pètre, Justine; Corsello, Christina; Rouleau, Guy A; Hamdan, Fadi F; Michaud, Jacques L; Morton, Jenny; Radley, Jessica; Ragge, Nicola; García-Miñaúr, Sixto; Lapunzina, Pablo; Bralo, Maria Palomares; Mori, Maria Ángeles; Moortgat, Stéphanie; Benoit, Valérie; Mary, Sandrine; Bockaert, Nele; Oostra, Ann; Vanakker, Olivier; Velinov, Milen; de Ravel, Thomy Jl; Mekahli, Djalila; Sebat, Jonathan; Vaux, Keith K; DiDonato, Nataliya; Hanson-Kahn, Andrea K; Hudgins, Louanne; Dallapiccola, Bruno; Novelli, Antonio; Tarani, Luigi; Andrieux, Joris; Parker, Michael J; Neas, Katherine; Ceulemans, Berten; Schoonjans, An-Sofie; Prchalova, Darina; Havlovicova, Marketa; Hancarova, Miroslava; Budisteanu, Magdalena; Dheedene, Annelies; Menten, Björn; Dion, Patrick A; Lederer, Damien; Callewaert, Bert
Journal of Medical Genetics, Vol. 54, no.9, p. 613-623 (2017)
Journal of medical genetics
Journal of medical genetics
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; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Sola, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; Steel, Dora; Kurian, Manju; Barwick, Katy; Carrasco, Diana; Dagli, Aditi I.; Nowaczyk, M. J. M.; Hancarova, Miroslava; Bendova, Sarka; Prchalova, Darina; Sedlacek, Zdenek; Baxova, Alica; Nowak, Catherine Bearce; Douglas, Jessica; Chung, Wendy K.; Longo, Nicola; Platzer, Konrad; Kloeckner, 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, Gwenael L. E.; Kaplan, Julie; Muss, Candace; Carere, Deanna Alexis; Bhoj, Elizabeth J. K.; Bryant, Laura M.
Academic Journal
Darina Prchalova; Marketa Havlovicova; Katalin Sterbova; Viktor Stranecky; Miroslava Hancarova; Zdenek Sedlacek
BMC Medical Genetics, Vol 18, Iss 1, Pp 1-7 (2017)
Academic Journal
Wang, Tianyun; Hoekzema, Kendra; Vecchio, Davide; Wu, Huidan; Sulovari, Arvis; Coe, Bradley P.; Gillentine, Madelyn A.; Wilfert, Amy B.; Perez-Jurado, Luis A.; Kvarnung, Malin; Sleyp, Yoeri; Earl, Rachel K.; Rosenfeld, Jill A.; Geisheker, Madeleine R.; Han, Lin; Du, Bing; Barnett, Chris; Thompson, Elizabeth; Shaw, Marie; Carroll, Renee; Friend, Kathryn; Catford, Rachael; Palmer, Elizabeth E.; Zou, Xiaobing; Ou, Jianjun; Li, Honghui; Guo, Hui; Gerdts, Jennifer; Avola, Emanuela; Calabrese, Giuseppe; Elia, Maurizio; Greco, Donatella; Lindstrand, Anna; Nordgren, Ann; Anderlid, Britt-Marie; Vandeweyer, Geert; Van Dijck, Anke; Van der Aa, Nathalie; McKenna, Brooke; Hancarova, Miroslava; Bendova, Sarka; Havlovicova, Marketa; Malerba, Giovanni; Bernardina, Bernardo Dalla; Muglia, Pierandrea; van Haeringen, Arie; Hoffer, Mariette J. V.; Franke, Barbara; Cappuccio, Gerarda; Delatycki, Martin; Lockhart, Paul J.; Manning, Melanie A.; Liu, Pengfei; Scheffer, Ingrid E.; Brunetti-Pierri, Nicola; Rommelse, Nanda; Amaral, David G.; Santen, Gijs W. E.; Trabetti, Elisabetta; Sedláček, Zdeněk; Michaelson, Jacob J.; Pierce, Karen; Courchesne, Eric; Kooy, R. Frank; Nordenskjöld, Magnus; Romano, Corrado; Peeters, Hilde; Bernier, Raphael A.; Gecz, Jozef; Xia, Kun; Eichler, Evan E.
Nature Communications. 11(1)
Academic Journal
Miroslava Hancarova; Davit Babikyan; Sarka Bendova; Susanna Midyan; Darina Prchalova; Gohar Shahsuvaryan; Viktor Stranecky; Tamara Sarkisian; Zdenek Sedlacek
Molecular Genetics & Genomic Medicine, Vol 7, Iss 9, Pp n/a-n/a (2019)
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