학술논문
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'학술논문'
에서 검색결과 284건 | 목록
1~20
Academic Journal
Clara Houdayer; A. Marie Phillips; Marie Chabbert; Jennifer Bourreau; Reza Maroofian; Henry Houlden; Kay Richards; Nebal Waill Saadi; Eliška Dad'ová; Patrick Van Bogaert; Mailys Rupin; Boris Keren; Perrine Charles; Thomas Smol; Audrey Riquet; Lynn Pais; Anne O'Donnell‐Luria; Grace E. VanNoy; Allan Bayat; Rikke S Møller; Kern Olofsson; Rami Abou Jamra; Steffen Syrbe; Majed Dasouki; Laurie H. Seaver; Jennifer A. Sullivan; Vandana Shashi; Fowzan S. Alkuraya; Alexis F. Poss; J. Edward Spence; Rhonda E. Schnur; Ian C. Forster; Chaseley E. Mckenzie; Cas Simons; Min Wang; Penny Snell; Kavitha Kothur; Michael Buckley; Tony Roscioli; Noha Elserafy; Benjamin Dauriat; Vincent Procaccio; Daniel Henrion; Guy Lenaers; Estelle Colin; Nienke E. Verbeek; Koen L. Van Gassen; Claire Legendre; Dominique Bonneau; Christopher A. Reid; Katherine B. Howell; Alban Ziegler; Christian Legros
Ann Neurol
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
Müller, Franz ; Neuser, Sonja ; Shrestha, Gaurav ; Neupane, Netra P. ; Götze, Katharina J. ; Brunetti-Pierri, Nicola ; Terrone, Gaetano ; Reymond, Alexandre ; van Gassen, Koen L. ; Brilstra, Eva ; Steindl, Katharina ; Begemann, Anais ; Rauch, Anita ; Rips, Jonathan ; Fahham, Duha ; Barakat, Tahsin Stefan ; Patat, Olivier ; Mortreux, Jérémie ; Chau, Matthew Hoi Kin ; Rosenfeld, Jill A. ; Mizerik, Elizabeth ; Srivastava, Swati ; Luo, Xi ; Dahse, Anne-Kristin ; Scholz, Nicole ; Das, Joydip ; Roman, Gregg ; Langenhan, Tobias ; Abou Jamra, Rami ; Mrestani, Achmed ; Ljaschenko, Dmitrij
In Biochemistry and Biophysics Reports March 2026 45
Academic Journal
Gong, Maolei ; Li, Jiayi ; Qin, Zailong ; Machado Bressan Wilke, Matheus Vernet ; Liu, Yijun ; Li, Qian ; Liu, Haoran ; Liang, Chen ; Morales-Rosado, Joel A. ; Cohen, Ana S.A. ; Hughes, Susan S. ; Sullivan, Bonnie R. ; Waddell, Valerie ; van den Boogaard, Marie-José H. ; van Jaarsveld, Richard H. ; van Binsbergen, Ellen ; van Gassen, Koen L. ; Wang, Tianyun ; Hiatt, Susan M. ; Amaral, Michelle D. ; Kelley, Whitley V. ; Zhao, Jianbo ; Feng, Weixing ; Ren, Changhong ; Yu, Yazhen ; Boczek, Nicole J. ; Ferber, Matthew J. ; Lahner, Carrie ; Elliott, Sherr ; Ruan, Yiyan ; Mignot, Cyril ; Keren, Boris ; Xie, Hua ; Wang, Xiaoyan ; Popp, Bernt ; Zweier, Christiane ; Piard, Juliette ; Coubes, Christine ; Mau-Them, Frederic Tran ; Safraou, Hana ; Innes, A. Micheil ; Gauthier, Julie ; Michaud, Jacques L. ; Koboldt, Daniel C. ; Sylvie, Odent ; Willems, Marjolaine ; Tan, Wen-Hann ; Cogne, Benjamin ; Rieubland, Claudine ; Braun, Dominique ; McLean, Scott Douglas ; Platzer, Konrad ; Zacher, Pia ; Oppermann, Henry ; Evenepoel, Lucie ; Blanc, Pierre ; El Khattabi, Laïla ; Haque, Neshatul ; Dsouza, Nikita R. ; Zimmermann, Michael T. ; Urrutia, Raul ; Klee, Eric W. ; Shen, Yiping ; Du, Hongzhen ; Rappaport, Leonard ; Liu, Chang-Mei ; Chen, Xiaoli
In The American Journal of Human Genetics 7 November 2024 111(11):2392-2410
Academic Journal
Jelena Pozojevic; Radhika Sivaprasad; Joshua Laß; Franziska Haarich; Joanne Trinh; Naseebullah Kakar; Kristin Schulz; Kristian Händler; Annemarie A. Verrijn Stuart; Jacques C. Giltay; Koen L. van Gassen; Almuth Caliebe; Paul-Martin Holterhus; Malte Spielmann; Nadine C. Hornig
Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)
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
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
MARK2variants cause autism spectrum disorderviathe downregulation of WNT/β-catenin signaling pathway
Academic Journal
Maolei Gong; Jiayi Li; Yijun Liu; Matheus Vernet Machado Bressan Wilke; Qian Li; Haoran Liu; Chen Liang; Joel A Morales-Rosado; Ana S.A. Cohen; Susan S. Hughes; Bonnie R. Sullivan; Valerie Waddell; Marie-José H. van den Boogaard; Richard H. van Jaarsveld; Ellen van Binsbergen; Koen L van Gassen; Tianyun Wang; Susan M. Hiatt; Michelle D. Amaral; Whitley V. Kelley; Jianbo Zhao; Weixing Feng; Changhong Ren; Yazhen Yu; Nicole J Boczek; Matthew J. Ferber; Carrie Lahner; Sherr Elliott; Yiyan Ruan; Mignot Cyril; Boris Keren; Hua Xie; Xiaoyan Wang; Bernt Popp; Christiane Zweier; Juliette Piard; Christine Coubes; Frederic Tran Mau-Them; Hana Safraou; Micheil Innes; Julie Gauthier; Jacques Michaud; Daniel C. Koboldt; Odent Sylvie; Marjolaine Willems; Wen-Hann Tan; Benjamin Cogne; Claudine Rieubland; Dominique Braun; Scott Douglas McLean; Konrad Platzer; Pia Zacher; Henry Oppermann; Lucie Evenepoel; Pierre Blanc; Laïla El Khattabi; Neshatul Haque; Nikita R. Dsouza; Michael T. Zimmermann; Raul Urrutia; Eric W Klee; Yiping Shen; Hongzhen Du; Zailong Qin; Chang-Mei Liu; Xiaoli Chen
Academic Journal
In Genetics in Medicine June 2022 24(6):1306-1315
Academic Journal
Muffels, Irena J. J.; Carter, Theodore; Rehmann, Holger; Vastert, Sebastiaan J.; Stuart, Annemarie A. Verrijn; Blank, Andreas C.; Garde, Aurore; van der Zwaag, Bert; De Lange, Iris M.; Giltay, Jacques C.; van Gassen, Koen L. I.; Koop, Klaas; Asensio, Cedric S.; van Hasselt, Peter M.
Academic Journal
Kummeling, Joost; Stremmelaar, Diante E.; Raun, Nicholas; Reijnders, Margot R. F.; Willemsen, Marjolein H.; Ruiterkamp-Versteeg, Martina; Schepens, Marga; Man, Calvin C. O.; Gilissen, Christian; Cho, Megan T.; McWalter, Kirsty; Sinnema, Margje; Wheless, James W.; Simon, Marleen E. H.; Genetti, Casie A.; Casey, Alicia M.; Terhal, Paulien A.; van der Smagt, Jasper J.; van Gassen, Koen L. I.; Joset, Pascal; Bahr, Angela; Steindl, Katharina; Rauch, Anita; Keller, Elmar; Raas-Rothschild, Annick; Koolen, David A.; Agrawal, Pankaj B.; Hoffman, Trevor L.; Powell-Hamilton, Nina N.; Thiffault, Isabelle; Engleman, Kendra; Zhou, Dihong; Bodamer, Olaf; Hoefele, Julia; Riedhammer, Korbinian M.; Schwaibold, Eva M. C.; Tasic, Velibor; Schubert, Dirk; Top, Deniz; Pfundt, Rolph; Higgs, Martin R.; Kramer, Jamie M.; Kleefstra, Tjitske
Molecular Psychiatry. 26(6):2013-2024
Academic Journal
In Genetics in Medicine March 2021 23(3):562-570
Academic Journal
Klöckner, Chiara; Sticht, Heinrich; Zacher, Pia; Popp, Bernt; Babcock, Holly E.; Bakker, Dewi P.; Barwick, Katy; Bonfert, Michaela V.; Bönnemann, Carsten G.; Brilstra, Eva H.; Chung, Wendy K.; Clarke, Angus J.; Devine, Patrick; Donkervoort, Sandra; Fraser, Jamie L.; Friedman, Jennifer; Gates, Alyssa; Ghoumid, Jamal; Hobson, Emma; Horvath, Gabriella; Keller-Ramey, Jennifer; Keren, Boris; Kurian, Manju A.; Lee, Virgina; Leppig, Kathleen A.; Lundgren, Johan; McDonald, Marie T.; McLaughlin, Heather M.; McTague, Amy; Mefford, Heather C.; Mignot, Cyril; Mikati, Mohamad A.; Nava, Caroline; Raymond, F. Lucy; Sampson, Julian R.; Sanchis-Juan, Alba; Shashi, Vandana; Shieh, Joseph T. C.; Shinawi, Marwan; Slavotinek, Anne; Stödberg, Tommy; Stong, Nicholas; Sullivan, Jennifer A.; Taylor, Ashley C.; Toler, Tomi L.; van den Boogaard, Marie-José; van der Crabben, Saskia N.; van Gassen, Koen L. I.; van Jaarsveld, Richard H.; Van Ziffle, Jessica; Wadley, Alexandrea F.; Wagner, Matias; Wigby, Kristen; Wortmann, Saskia B.; Zarate, Yuri A.; Møller, Rikke S.; Lemke, Johannes R.; Platzer, Konrad
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(4):653-660
Academic Journal
Cousin, Margot A.; Creighton, Blake A.; Breau, Keith A.; Spillmann, Rebecca C.; Torti, Erin; Dontu, Sruthi; Tripathi, Swarnendu; Ajit, Deepa; Edwards, Reginald J.; Afriyie, Simone; Bay, Julia C.; Harper, Kathryn M.; Beltran, Alvaro A.; Munoz, Lorena J.; Falcon Rodriguez, Liset; Stankewich, Michael C.; Person, Richard E.; Si, Yue; Normand, Elizabeth A.; Blevins, Amy; May, Alison S.; Bier, Louise; Aggarwal, Vimla; Mancini, Grazia M. S.; van Slegtenhorst, Marjon A.; Cremer, Kirsten; Becker, Jessica; Engels, Hartmut; Aretz, Stefan; MacKenzie, Jennifer J.; Brilstra, Eva; van Gassen, Koen L. I.; van Jaarsveld, Richard H.; Oegema, Renske; Parsons, Gretchen M.; Mark, Paul; Helbig, Ingo; McKeown, Sarah E.; Stratton, Robert; Cogne, Benjamin; Isidor, Bertrand; Cacheiro, Pilar; Smedley, Damian; Firth, Helen V.; Bierhals, Tatjana; Kloth, Katja; Weiss, Deike; Fairley, Cecilia; Shieh, Joseph T.; Kritzer, Amy; Jayakar, Parul; Kurtz-Nelson, Evangeline; Bernier, Raphael A.; Wang, Tianyun; Eichler, Evan E.; van de Laar, Ingrid M. B. H.; McConkie-Rosell, Allyn; McDonald, Marie T.; Kemppainen, Jennifer; Lanpher, Brendan C.; Schultz-Rogers, Laura E.; Gunderson, Lauren B.; Pichurin, Pavel N.; Yoon, Grace; Zech, Michael; Jech, Robert; Winkelmann, Juliane; Beltran, Adriana S.; Zimmermann, Michael T.; Temple, Brenda; Moy, Sheryl S.; Klee, Eric W.; Tan, Queenie K.-G.; Lorenzo, Damaris N.
Nature Genetics. 53(7):1006-1021
Academic Journal
Flex, Elisabetta ; Martinelli, Simone ; Van Dijck, Anke ; Ciolfi, Andrea ; Cecchetti, Serena ; Coluzzi, Elisa ; Pannone, Luca ; Andreoli, Cristina ; Radio, Francesca Clementina ; Pizzi, Simone ; Carpentieri, Giovanna ; Bruselles, Alessandro ; Catanzaro, Giuseppina ; Pedace, Lucia ; Miele, Evelina ; Carcarino, Elena ; Ge, Xiaoyan ; Chijiwa, Chieko ; Lewis, M.E. Suzanne ; Meuwissen, Marije ; Kenis, Sandra ; Van der Aa, Nathalie ; Larson, Austin ; Brown, Kathleen ; Wasserstein, Melissa P. ; Skotko, Brian G. ; Begtrup, Amber ; Person, Richard ; Karayiorgou, Maria ; Roos, J. Louw ; Van Gassen, Koen L. ; Koopmans, Marije ; Bijlsma, Emilia K. ; Santen, Gijs W.E. ; Barge-Schaapveld, Daniela Q.C.M. ; Ruivenkamp, Claudia A.L. ; Hoffer, Mariette J.V. ; Lalani, Seema R. ; Streff, Haley ; Craigen, William J. ; Graham, Brett H. ; van den Elzen, Annette P.M. ; Kamphuis, Daan J. ; Õunap, Katrin ; Reinson, Karit ; Pajusalu, Sander ; Wojcik, Monica H. ; Viberti, Clara ; Di Gaetano, Cornelia ; Bertini, Enrico ; Petrucci, Simona ; De Luca, Alessandro ; Rota, Rossella ; Ferretti, Elisabetta ; Matullo, Giuseppe ; Dallapiccola, Bruno ; Sgura, Antonella ; Walkiewicz, Magdalena ; Kooy, R. Frank ; Tartaglia, Marco
In The American Journal of Human Genetics 5 September 2019 105(3):493-508
Academic Journal
Maddirevula, Sateesh; Shagrani, Mohammad; Ji, Ae-Ri; Horne, Christopher R.; Young, Samuel N.; Mather, Lucy J.; Alqahtani, Mashael; McKerlie, Colin; Wood, Geoffrey; Potter, Paul K.; Abdulwahab, Firdous; AlSheddi, Tarfa; van der Woerd, Wendy L.; van Gassen, Koen L. I.; Albogami, Dalal; Kumar, Kishwer; Akhtar, Ali Syed Muhammad; Binomar, Hiba; Almanea, Hadeel; Faqeih, Eissa; Fuchs, Sabine A.; Scott, John W.; Murphy, James M.; Alkuraya, Fowzan S.
Academic Journal
Reynhout, Sara ; Jansen, Sandra ; Haesen, Dorien ; van Belle, Siska ; de Munnik, Sonja A. ; Bongers, Ernie M.H.F. ; Schieving, Jolanda H. ; Marcelis, Carlo ; Amiel, Jeanne ; Rio, Marlène ; Mclaughlin, Heather ; Ladda, Roger ; Sell, Susan ; Kriek, Marjolein ; Peeters-Scholte, Cacha M.P.C.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 ; Ruzhnikov, 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.L.M.
In The American Journal of Human Genetics 3 January 2019 104(1):139-156
Academic Journal
Sandra Jansen; Ilse M. van der Werf; A. Micheil Innes; Alexandra Afenjar; Pankaj B. Agrawal; Ilse J. Anderson; Paldeep S. Atwal; Ellen van Binsbergen; Marie-José van den Boogaard; Lucia Castiglia; Zeynep H. Coban-Akdemir; Anke van Dijck; Diane Doummar; Albertien M. van Eerde; Anthonie J. van Essen; Koen L. van Gassen; Maria J. Guillen Sacoto; Mieke M. van Haelst; Ivan Iossifov; Jessica L. Jackson; Elizabeth Judd; Charu Kaiwar; Boris Keren; Eric W. Klee; Jolien S. Klein Wassink-Ruiter; Marije E. Meuwissen; Kristin G. Monaghan; Sonja A. de Munnik; Caroline Nava; Charlotte W. Ockeloen; Rosa Pettinato; Hilary Racher; Tuula Rinne; Corrado Romano; Victoria R. Sanders; Rhonda E. Schnur; Eric J. Smeets; Alexander P. A. Stegmann; Asbjørg Stray-Pedersen; David A. Sweetser; Paulien A. Terhal; Kristian Tveten; Grace E. VanNoy; Petra F. de Vries; Jessica L. Waxler; Marcia Willing; Rolph Pfundt; Joris A. Veltman; R. Frank Kooy; Lisenka E. L. M. Vissers; Bert B. A. de Vries
Jansen, S, van der Werf, I M, Innes, A M, Afenjar, A, Agrawal, P B, Anderson, I J, Atwal, P S, van Binsbergen, E, van den Boogaard, M J, Castiglia, L , Coban-Akdemir, Z H, van Dijck, A, Doummar, D, van Eerde, A M, van Essen, A J, van Gassen , K L , Guillen Sacoto, M J, van Haelst, M M, Iossifov, I, Jackson, J L , Judd, E, Kaiwar, C, Keren, B, Klee, E W, Klein Wassink-Ruiter, J S, Meuwissen, M E, Monaghan, K G, de Munnik, S A, Nava, C, Ockeloen, C W, Pettinato, R, Racher, H, Rinne, T, Romano, C, Sanders, V R, Schnur, R E, Smeets, E J, Stegmann, A P A, Stray-Pedersen, A, Sweetser, D A, Terhal, P A, Tveten, K, VanNoy, G E, de Vries, P F, Waxler, J L , Willing, M, Pfundt, R, Veltman, J A, Kooy, R F, Vissers, L E L M & de Vries, B B A 2019, 'De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms', European Journal of Human Genetics, vol. 27, no. 5, pp. 738-746. https://doi.org/10.1038/s41431-018-0292-2
European Journal of Human Genetics, 27, 5, pp. 738-746
European journal of human genetics
European Journal of Human Genetics, 27, 5, pp. 738-746
European journal of human genetics
Academic Journal
Marijn F. Stokman; Bert van der Zwaag; Nicole C. A. J. van de Kar; Mieke M. van Haelst; Albertien M. van Eerde; Joost W. van der Heijden; Hester Y. Kroes; Elly Ippel; Annelien J. A. Schulp; Koen L. van Gassen; Iris A. L. M. van Rooij; Rachel H. Giles; Philip L. Beales; Ronald Roepman; Heleen H. Arts; Ernie M. H. F. Bongers; Kirsten Y. Renkema; Nine V. A. M. Knoers; Jeroen van Reeuwijk; Marc R. Lilien
Pediatr Nephrol
Stokman, M F,van der Zwaag, B, van de Kar, N C A J, van Haelst, M M, van Eerde, A M, van der Heijden, J W, Kroes, H Y, Ippel, E, Schulp, A J A, van Gassen , K L , van Rooij, I A L M, Giles, R H, Beales, P L , Roepman, R, Arts, H H, Bongers, E M H F, Renkema, K Y, Knoers, N V A M, van Reeuwijk, J & Lilien, M R 2018, 'Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy', Pediatric Nephrology, vol. 33, no. 10, pp. 1701-1712. https://doi.org/10.1007/s00467-018-3958-7, https://doi.org/10.1007/s00467-018-3958-7
Pediatric Nephrology, 33, 10, pp. 1701-1712
Stokman, M F,
Pediatric Nephrology, 33, 10, pp. 1701-1712
Academic Journal
Johnston, Jennifer J. ; van der Smagt, Jasper J. ; Rosenfeld, Jill A. ; Pagnamenta, Alistair T. ; Alswaid, Abdulrahman ; Baker, Eva H. ; Blair, Edward ; Borck, Guntram ; Brinkmann, Julia ; Craigen, William ; Dung, Vu Chi ; Emrick, Lisa ; Everman, David B. ; van Gassen, Koen L. ; Gulsuner, Suleyman ; Harr, Margaret H. ; Jain, Mahim ; Kuechler, Alma ; Leppig, Kathleen A. ; McDonald-McGinn, Donna M. ; Can, Ngoc Thi Bich ; Peleg, Amir ; Roeder, Elizabeth R. ; Rogers, R.Curtis ; Sagi-Dain, Lena ; Sapp, Julie C. ; Schäffer, Alejandro A. ; Schanze, Denny ; Stewart, Helen ; Taylor, Jenny C. ; Verbeek, Nienke E. ; Walkiewicz, Magdalena A. ; Zackai, Elaine H. ; Zweier, Christiane ; Zenker, Martin ; Lee, Brendan ; Biesecker, Leslie G.
In Genetics in Medicine October 2018 20(10):1175-1185
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