학술논문
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'학술논문'
에서 검색결과 229건 | 목록
1~20
Academic Journal
Florent Colin; Pauline Burger; Timothée Mazzucotelli; Axelle Strehle; Joost Kummeling; Nicole Collot; Elyette Broly; Angela T. Morgan; Kenneth A. Myers; Agnès Bloch-Zupan; Charlotte W. Ockeloen; Bert B.A. de Vries; Tjitske Kleefstra; Pierre Parrend; David A. Koolen; Jean-Louis Mandel
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100817- (2023)
Academic Journal
Leonardo Chimirri; J. Harry Caufield; Yasemin Bridges; Nicolas Matentzoglu; Michael Gargano; Mario Cazalla; Shihan Chen; Daniel Danis; Alexander J.M. Dingemans; Klara Gehle; Petra Gehle; Adam S.L. Graefe; Weihong Gu; Markus S. Ladewig; Pablo Lapunzina; Julián Nevado; Enock Niyonkuru; Soichi Ogishima; Dominik Seelow; Jair A. Tenorio Castaño; Marek Turnovec; Bert B.A. de Vries; Kai Wang; Kyran Wissink; Zafer Yüksel; Gabriele Zucca; Melissa A. Haendel; Christopher J. Mungall; Justin Reese; Peter N. Robinson
EBioMedicine, Vol 121, Iss , Pp 105957- (2025)
Academic Journal
Rots, Dmitrijs; Jakub, Taryn; Keung, Crystal; Jackson, Adam; Banka, Siddharth; Pfundt, Rolph; de Vries, Bert B.A.; van Jaarsveld, Richard; Hopman, Saskia M.J.; van Binsbergen, Ellen; Valenzuela, Irene; Hempel, Maja; Bierhals, Tatjana; Kortüm, Fanny; Lecoquierre, Francois; Goldenberg, Alice; Hertz, Jens Michael; Andersen, Charlotte Brasch; Kibæk, Maria; Prijoles, Eloise; Stevenson, Roger; Everman, David; Patterson, Wesley; Meng, Linyan; Gijavanekar, Charul; de Dios, Karl; Lakhani, Shenela; Levy, Tess; Wagner, Matias; Wieczorek, Dagmar; Benke, Paul; Lopez Garcia, María Soledad; Perrier, Renee; Sousa, Sergio; Almeida, Pedro; Simões, Maria José; Isidor, Bertrand; Deb, Wallid; Schmanski, Andrew; Abdul-Rahman, Omar; Philippe, Christophe; Bruel, Ange-Line; Faivre, Laurence; Vitobello, Antonio; Thauvin, Christel; Smits, Jeroen; Garavelli, Livia; Caraffi, Stefano; Peluso, Francesca; Davis-Keppen, Laura; Platt, Dylan; Royer, Erin; Leeuwen, Lisette; Sinnema, Margje; Stegmann, Alexander P.A.; Stumpel, Constance T.R.M.; Tiller, George; Bosch, Daniëlle G.M.; Potgieter, Stephanus; Joss, Shelagh; Splitt, Miranda; Holden, Simon; Prapa, Matina; Foulds, Nicola; Douzgou, Sofia; Puura, Kaija; Waltes, Regina; Chiocchetti, Andreas; Freitag, Christine; Satterstrom, F. Kyle; De Rubeis, Silvia; Buxbaum, Joseph; Gelb, Bruce; Branko, Aleksic; Kushima, Itaru; Howe, Jennifer; Scherer, Stephen; Arado, Alessia; Baldo, Chiara; Patat, Olivier; Bénédicte, Demeer; Lopergolo, Diego; Santorelli, Filippo; Haack, Tobias; Dufke, Andreas; Bertrand, Miriam; Falb, Ruth; Rieß, Angelika; Krieg, Peter; Spranger, Stephanie; Bedeschi, Maria Francesca; Iascone, Maria; Josephi-Taylor, Sarah; Roscioli, Tony; Buckley, Michael; Liebelt, Jan; Dagli, Aditi; Aten, Emmelien; Hurst, Anna C.E.; Hicks, Alesha; Suri, Mohnish; Aliu, Ermal; Naik, Sunil; Sidlow, Richard; Coursimault, Juliette; Nicolas, Gaël; Küpper, Hanna; Petit, Florence; Ibrahim, Veyan; Top, Deniz; Di Cara, Francesca; Louie, Raymond; Stolerman, Elliot; Brunner, Han; Vissers, Lisenka E.L.M.; Kramer, Jamie; Kleefstra, Tjitske
American Journal of Human Genetics, 110, 6, pp. 963-978
Am. J. Hum. Genet. 110, 963-978 (2023)
Genomics England Research Consortium, Rots, D, Jakub, T E, Keung, C, Jackson, A, Banka, S, Pfundt, R,de Vries , B B A, van Jaarsveld, R H, Hopman, S M J, van Binsbergen, E, Valenzuela, I, Hempel, M, Bierhals, T, Kortüm, F, Lecoquierre, F, Goldenberg, A, Hertz, J M, Andersen, C B, Kibæk, M, Prijoles, E J, Stevenson, R E, Everman, D B, Patterson, W G, Meng, L, Gijavanekar, C, De Dios, K, Lakhani, S, Levy, T, Wagner, M, Wieczorek, D, Benke, P J, Lopez Garcia, M S, Perrier, R, Sousa, S B, Simões, M J, Isidor, B, Deb, W, Schmanski, A A, Abdul-Rahman, O, Philippe, C, Bruel, A-L, Faivre, L, Vitobello, A, Thauvin, C, Smits, J J, Garavelli, L, Caraffi, S G, Peluso, F, Davis-Keppen, L & Douzgou, S 2023, 'The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder', American Journal of Human Genetics, vol. 110, no. 6, pp. 963-978. https://doi.org/10.1016/j.ajhg.2023.04.008
Am. J. Hum. Genet. 110, 963-978 (2023)
Genomics England Research Consortium, Rots, D, Jakub, T E, Keung, C, Jackson, A, Banka, S, Pfundt, R,
Academic Journal
Marlene F Pereira; Veronica Finazzi; Ludovico Rizzuti; Davide Aprile; Vittorio Aiello; Luca Mollica; Matteo Riva; Chiara Soriani; Francesco Dossena; Reinald Shyti; Davide Castaldi; Erika Tenderini; Maria Teresa Carminho-Rodrigues; Julien F Bally; Bert B.A. de Vries; Michele Gabriele; Alessandro Vitriolo; Giuseppe Testa
bioRxiv
Mol Psychiatry
Molecular psychiatry, vol. 30, no. 8, pp. 3413-3429
Mol Psychiatry
Molecular psychiatry, vol. 30, no. 8, pp. 3413-3429
Academic Journal
Shalev, Dafna; Koolen, David A.; de Vries, Bert B.A.; Blum Meirovitch, Sharon; Mandel, Jean-Louis; Burger, Pauline; Rosenfeld, Alik; Ben Simon, Guy J.; Landau Prat, Daphna
Academic Journal
Nabais Sá, Maria J.; El Tekle, Geniver; de Brouwer, Arjan P.M.; Sawyer, Sarah L.; del Gaudio, Daniela; Parker, Michael J.; Kanani, Farah; van den Boogaard, Marie José H.; van Gassen, Koen; Van Allen, Margot I.; Wierenga, Klaas; Purcarin, Gabriela; Elias, Ellen Roy; Begtrup, Amber; Keller-Ramey, Jennifer; Bernasocchi, Tiziano; van de Wiel, Laurens; Gilissen, Christian; Venselaar, Hanka; Pfundt, Rolph; Vissers, Lisenka E.L.M.; Theurillat, Jean Philippe P.; de Vries, Bert B.A.
American Journal of Human Genetics, 106, 3, pp. 405-411
Academic Journal
Liselot van der Laan; Ananília Silva; Lotte Kleinendorst; Kathleen Rooney; Sadegheh Haghshenas; Peter Lauffer; Yasemin Alanay; Pratibha Bhai; Alfredo Brusco; Sonja de Munnik; Bert B.A. de Vries; Angelica Delgado Vega; Marc Engelen; Johanna C. Herkert; Ron Hochstenbach; Saskia Hopman; Sarina G. Kant; Ryutaro Kira; Mitsuhiro Kato; Boris Keren; Hester Y. Kroes; Michael A. Levy; Ngu Lock-Hock; Saskia M. Maas; Grazia M.S. Mancini; Carlo Marcelis; Naomichi Matsumoto; Takeshi Mizuguchi; Alessandro Mussa; Cyril Mignot; Anu Närhi; Ann Nordgren; Rolph Pfundt; Abeltje M. Polstra; Slavica Trajkova; Yolande van Bever; Marie José van den Boogaard; Jasper J. van der Smagt; Tahsin Stefan Barakat; Mariëlle Alders; Marcel M.A.M. Mannens; Bekim Sadikovic; Mieke M. van Haelst; Peter Henneman
HGG Advances, Vol 6, Iss 1, Pp 100380- (2025)
Academic Journal
Reynhout, Sara; Jansen, Sandra; Haesen, Dorien; van Belle, Siska; de Munnik, Sonja A.; Bongers, Ernie M.HF.; Schieving, Jolanda H.; Marcelis, Carlo; Amiel, Jeanne; Rio, Marlène; Mclaughlin, Heather; Ladda, Roger; Sell, Susan; Kriek, Marjolein; Peeters-Scholte, Cacha M.PC.D.; Terhal, Paulien A.; van Gassen, Koen L.; Verbeek, Nienke; Henry, Sonja; Scott Schwoerer, Jessica; Malik, Saleem; Revencu, Nicole; Ferreira, Carlos R.; Macnamara, Ellen; Braakman, Hilde M.H.; Brimble, Elise; Ruznikov, Maura R.Z.; Wagner, Matias; Harrer, Philip; Wieczorek, Dagmar; Kuechler, Alma; Tziperman, Barak; Barel, Ortal; de Vries, Bert B.A.; Gordon, Christopher T.; Janssens, Veerle; Vissers, Lisenka E.LM.
American Journal of Human Genetics, 104, 1, pp. 139-156
American journal of human genetics, Vol. 104, no. 1, p. 139-156 (2019)
Am. J. Hum. Genet. 104, 139-156 (2019)
American journal of human genetics, Vol. 104, no. 1, p. 139-156 (2019)
Am. J. Hum. Genet. 104, 139-156 (2019)
Academic Journal
Rots, Dmitrijs ; Choufani, Sanaa ; Faundes, Victor ; Dingemans, Alexander J.M. ; Joss, Shelagh ; Foulds, Nicola ; Jones, Elizabeth A. ; Stewart, Sarah ; Vasudevan, Pradeep ; Dabir, Tabib ; Park, Soo-Mi ; Jewell, Rosalyn ; Brown, Natasha ; Pais, Lynn ; Jacquemont, Sébastien ; Jizi, Khadijé ; Ravenswaaij-Arts, Conny M.A. van ; Kroes, Hester Y. ; Stumpel, Constance T.R. M. ; Ockeloen, Charlotte W. ; Diets, Illja J. ; Nizon, Mathilde ; Vincent, Marie ; Cogné, Benjamin ; Besnard, Thomas ; Kambouris, Marios ; Anderson, Emily ; Zackai, Elaine H. ; McDougall, Carey ; Donoghue, Sarah ; O'Donnell-Luria, Anne ; Valivullah, Zaheer ; O'Leary, Melanie ; Srivastava, Siddharth ; Byers, Heather ; Leslie, Nancy ; Mazzola, Sarah ; Tiller, George E. ; Vera, Moin ; Shen, Joseph J. ; Boles, Richard ; Jain, Vani ; Brischoux-Boucher, Elise ; Kinning, Esther ; Simpson, Brittany N. ; Giltay, Jacques C. ; Harris, Jacqueline ; Keren, Boris ; Guimier, Anne ; Marijon, Pierre ; Vries, Bert B.A. de ; Motter, Constance S. ; Mendelsohn, Bryce A. ; Coffino, Samantha ; Gerkes, Erica H. ; Afenjar, Alexandra ; Visconti, Paola ; Bacchelli, Elena ; Maestrini, Elena ; Delahaye-Duriez, Andree ; Gooch, Catherine ; Hendriks, Yvonne ; Adams, Hieab ; Thauvin-Robinet, Christel ; Josephi-Taylor, Sarah ; Bertoli, Marta ; Parker, Michael J. ; Rutten, Julie W. ; Caluseriu, Oana ; Vernon, Hilary J. ; Kaziyev, Jonah ; Zhu, Jia ; Kremen, Jessica ; Frazier, Zoe ; Osika, Hailey ; Breault, David ; Nair, Sreelata ; Lewis, Suzanne M.E. ; Ceroni, Fabiola ; Viggiano, Marta ; Posar, Annio ; Brittain, Helen ; Giovanna, Traficante ; Giulia, Gori ; Quteineh, Lina ; Ha-Vinh Leuchter, Russia ; Zonneveld-Huijssoon, Evelien ; Mellado, Cecilia ; Marey, Isabelle ; Coudert, Alicia ; Aracena Alvarez, Mariana Inés ; Kennis, Milou G.P. ; Bouman, Arianne ; Roifman, Maian ; Amorós Rodríguez, María Inmaculada ; Ortigoza-Escobar, Juan Dario ; Vernimmen, Vivian ; Sinnema, Margje ; Pfundt, Rolph ; Brunner, Han G. ; Vissers, Lisenka E.L.M. ; Kleefstra, Tjitske ; Weksberg, Rosanna ; Banka, Siddharth
In The American Journal of Human Genetics 8 August 2024 111(8):1626-1642
Academic Journal
Silvestre Cuinat; Mathilde Nizon; Bertrand Isidor; Alexander Stegmann; Richard H. van Jaarsveld; Koen L. van Gassen; Jasper J. van der Smagt; Catharina M.L. Volker-Touw; Sjoerd J.B. Holwerda; Paulien A. Terhal; Sarah Schuhmann; Georgia Vasileiou; Mohamed Khalifa; Alaa A. Nugud; Hemad Yasaei; Lilian Bomme Ousager; Charlotte Brasch-Andersen; Wallid Deb; Thomas Besnard; Marleen E.H. Simon; Karin Huijsdens-van Amsterdam; Nienke E. Verbeek; Dena Matalon; Natalie Dykzeul; Shana White; Elizabeth Spiteri; Koen Devriendt; Anneleen Boogaerts; Marjolein Willemsen; Han G. Brunner; Margje Sinnema; Bert B.A. De Vries; Erica H. Gerkes; Rolph Pfundt; Kosuke Izumi; Ian D. Krantz; Zhou L. Xu; Jill R. Murrell; Irene Valenzuela; Ivon Cusco; Eulàlia Rovira-Moreno; Yaping Yang; Varoona Bizaoui; Olivier Patat; Laurence Faivre; Frederic Tran-Mau-Them; Antonio Vitobello; Anne-Sophie Denommé-Pichon; Christophe Philippe; Stéphane Bezieau; Benjamin Cogné
Genetics in Medicine, 24, 8, pp. 1774-1780
Academic Journal
Jet van der Spek; Joery den Hoed; Lot Snijders Blok; Alexander J.M. Dingemans; Dick Schijven; Christoffer Nellaker; Hanka Venselaar; Galuh D.N. Astuti; Tahsin Stefan Barakat; E. Martina Bebin; Stefanie Beck-Wödl; Gea Beunders; Natasha J. Brown; Theresa Brunet; Han G. Brunner; Philippe M. Campeau; Goran Čuturilo; Christian Gilissen; Tobias B. Haack; Irina Hüning; Ralf A. Husain; Benjamin Kamien; Sze Chern Lim; Luca Lovrecic; Janine Magg; Ales Maver; Valancy Miranda; Danielle C. Monteil; Charlotte W. Ockeloen; Lynn S. Pais; Vasilica Plaiasu; Laura Raiti; Christopher Richmond; Angelika Rieß; Eva M.C. Schwaibold; Marleen E.H. Simon; Stephanie Spranger; Tiong Yang Tan; Michelle L. Thompson; Bert B.A. de Vries; Ella J. Wilkins; Marjolein H. Willemsen; Clyde Francks; Lisenka E.L.M. Vissers; Simon E. Fisher; Tjitske Kleefstra
Genetics in Medicine, 24, 6, pp. 1283-1296
Genetics in Medicine
Genetics in Medicine
Academic Journal
Boer, Elke de ; Cohen, Enzo ; Cuesta, Isabel ; Danis, Daniel ; Denommé-Pichon, Anne-Sophie ; Gao, Fei ; Gilissen, Christian ; Horvath, Rita ; Johari, Mridul ; Johanson, Lennart ; Li, Shuang ; Matalonga, Leslie ; Morsy, Heba ; Nelson, Isabelle ; Paramonov, Ida ; Paske, Iris B.A.W. te ; Robinson, Peter ; Savarese, Marco ; Steyaert, Wouter ; Töpf, Ana ; Trimouille, Aurélien ; van der Velde, Joeri K. ; Vandrovcova, Jana ; Vitobello, Antonio ; Zurek, Birte ; Abbot, Kristin M. ; Banka, Siddharth ; Benetti, Elisa ; de Boer, Elke ; Casari, Giorgio ; Ciolfi, Andrea ; Clayton-Smith, Jill ; Dallapiccola, Bruno ; Ellwanger, Kornelia ; Faivre, Laurence ; Graessner, Holm ; Haack, Tobias B. ; Hammarsjö, Anna ; Havlovicova, Marketa ; Hoischen, Alexander ; Hugon, Anne ; Jackson, Adam ; Kerstjens, Mieke ; Kleefstra, Tjitske ; Lindstrand, Anna ; Martín, Estrella López ; Macek, Milan, Jr. ; Maystadt, Isabelle ; Morleo, Manuela ; Nigro, Vicenzo ; Nordgren, Ann ; Pettersson, Maria ; Pinelli, Michele ; Pizzi, Simone ; Posada, Manuel ; Radio, Francesca C. ; Renieri, Alessandra ; Rooryck, Caroline ; Ryba, Lukas ; Santen, Gijs W.E. ; Schwarz, Martin ; Tartaglia, Marco ; Thauvin, Christel ; Torella, Annalaura ; Verloes, Alain ; Vissers, Lisenka ; Votypka, Pavel ; Vyshka, Klea ; Zguro, Kristina ; Yaldiz, Burcu ; Laurie, Steve ; de Reuver, Rick ; Kwint, Michael ; Pfundt, Rolph ; Willemsen, Michèl A.A.P. ; Vries, Bert B.A. de ; Vitobello, A. ; Vissers, Lisenka E.L.M.
In European Journal of Medical Genetics January 2022 65(1)
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, 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,
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