학술논문
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'학술논문'
에서 검색결과 382건 | 목록
1~20
Academic Journal
van der Vis, Joanne J.; Maus, Martijn T. K.; de Bie, Charlotte I.; van der Smagt, Jasper J.; Daenen, Laura G. M.; van Oosterhout, Matthijs F.M.; Grutters, Jan C.; van Moorsel, Coline H. M.
Respiratory Research. January 19, 2026, Vol. 27 Issue 1
Academic Journal
van der Laan, Liselot; Kleinendorst, Lotte; Haagmans, Martin A.; Roquas, Laura; van der Smagt, Jasper J.; Koop, Klaas; Henneman, Peter; van Haelst, Mieke M.
European Journal of Medical Genetics. 75
Academic Journal
van der Laan, Liselot ; Silva, Ananília ; Kleinendorst, Lotte ; Rooney, Kathleen ; Haghshenas, Sadegheh ; Lauffer, Peter ; Alanay, Yasemin ; Bhai, Pratibha ; Brusco, Alfredo ; de Munnik, Sonja ; de Vries, Bert B.A. ; Vega, Angelica Delgado ; Engelen, Marc ; Herkert, Johanna C. ; Hochstenbach, Ron ; Hopman, Saskia ; Kant, Sarina G. ; Kira, Ryutaro ; Kato, Mitsuhiro ; Keren, Boris ; Kroes, Hester Y. ; Levy, Michael A. ; Lock-Hock, Ngu ; Maas, Saskia M. ; Mancini, Grazia M.S. ; Marcelis, Carlo ; Matsumoto, Naomichi ; Mizuguchi, Takeshi ; Mussa, Alessandro ; Mignot, Cyril ; Närhi, Anu ; Nordgren, Ann ; Pfundt, Rolph ; Polstra, Abeltje M. ; Trajkova, Slavica ; van Bever, Yolande ; José van den Boogaard, Marie ; van der Smagt, Jasper J. ; Barakat, Tahsin Stefan ; Alders, Mariëlle ; Mannens, Marcel M.A.M. ; Sadikovic, Bekim ; van Haelst, Mieke M. ; Henneman, Peter
In Human Genetics and Genomics Advances 9 January 2025 6(1)
Academic Journal
D’Incal, Claudio Peter; Annear, Dale John; Elinck, Ellen; van der Smagt, Jasper J.; Alders, Mariëlle; Dingemans, Alexander J. M.; Mateiu, Ligia; de Vries, Bert B. A.; Vanden Berghe, Wim; Kooy, R. Frank
European Journal of Human Genetics. 32(6):630-638
Academic Journal
Terwiel, Michelle; Borie, Raphael; Crestani, Bruno; Galvin, Liam; Bonella, Francesco; Fabre, Aurelie; Froidure, Antoine; Griese, Matthias; Grutters, Jan C.; Johannson, Kerri; Kannengiesser, Caroline; Kawano-Dourado, Leticia; Molina-Molina, Maria; Prasse, Antje; Renzoni, Elisabetta A.; van der Smagt, Jasper; Poletti, Venerino; Antoniou, Katerina; van Moorsel, Coline H. M.; Smagt, Jasper; Moorsel, Coline H. M.
Respirology, Vol. 27, no. 9, p. 747-757 (2022)
Academic Journal
Kerkhof, Jennifer ; Rastin, Cassandra ; Levy, Michael A. ; Relator, Raissa ; McConkey, Haley ; Demain, Leigh ; Dominguez-Garrido, Elena ; Kaat, Laura Donker ; Houge, Sofia Douzgou ; DuPont, Barbara R. ; Fee, Timothy ; Fletcher, Robin S. ; Gokhale, David ; Haukanes, Bjørn Ivar ; Henneman, Peter ; Hilton, Sarah ; Hilton, Benjamin A. ; Jenkinson, Sarah ; Lee, Jennifer A. ; Louie, Raymond J. ; Motazacker, M. Mahdi ; Rzasa, Jessica ; Stevenson, Roger E. ; Plomp, Astrid ; van der Laan, Liselot ; van der Smagt, Jasper ; Walden, Kellie K. ; Banka, Siddharth ; Mannens, Marcel ; Skinner, Steven A. ; Friez, Michael J. ; Campbell, Christopher ; Tedder, Matthew L. ; Alders, Marielle ; Sadikovic, Bekim
In Genetics in Medicine May 2024 26(5)
Academic Journal
Harms, Frederike L. ; Dingemans, Alexander J.M. ; Hempel, Maja ; Pfundt, Rolph ; Bierhals, Tatjana ; Casar, Christian ; Müller, Christian ; Niermeijer, Jikke-Mien F. ; Fischer, Jan ; Jahn, Arne ; Hübner, Christoph ; Majore, Silvia ; Agolini, Emanuele ; Novelli, Antonio ; van der Smagt, Jasper ; Ernst, Robert ; van Binsbergen, Ellen ; Mancini, Grazia M.S. ; van Slegtenhorst, Marjon ; Barakat, Tahsin Stefan ; Wakeling, Emma L. ; Kamath, Arveen ; Downie, Lilian ; Pais, Lynn ; White, Susan M. ; de Vries, Bert B.A. ; Kutsche, Kerstin
In Genetics in Medicine October 2023 25(10)
Academic Journal
Acosta, Maria T.; Adam, Margaret; Adams, David R.; Alvarez, Raquel L.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Bacino, Carlos A.; Bademci, Guney; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bellen, Hugo J.; Bennett, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Cassini, Thomas; Chang, Ta Chen Peter; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Colley, Heather A.; Cooper, Cynthia M.; Cope, Heidi; Corona, Rosario; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D’Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Dayal, Jyoti G.; Dell'Angelica, Esteban C.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Falk, Marni; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Gahl, William A.; Glass, Ian; Gochuico, Bernadette; Goddard, Page C.; Godfrey, Rena A.; Golden-Grant, Katie; Grajewski, Alana; Hadley, Don; Hahn, Sihoun; Halley, Meghan C.; Hamid, Rizwan; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Hutchison, Sarah; Introne, Wendy; Isasi, Rosario; Izumi, Kosuke; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Jean-Marie, Orpa; Jobanputra, Vaidehi; Karaviti, Lefkothea; Ketkar, Shamika; Kiley, Dana; Kilich, Gonench; Kobren, Shilpa N.; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Kozuira, Mary; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Lalani, Seema R.; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; LeBlanc, Kimberly; Lee, Brendan H.; Levitt, Roy; Lewis, Richard A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Maghiro, AudreyStephannie; Mahoney, Rachel; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martínez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCray, Alexa T.; McGee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo; Mulvihill, John; Nakano-Okuno, Mariko; Nelson, Stanley F.; Newman, John H.; Nicholas, Sarah K.; Nickerson, Deborah; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Palmer, Christina G.S.; Papp, Jeanette C.; Parker, Neil H.; Phillips III, John A.; Posey, Jennifer E.; Potocki, Lorraine; Pusey Swerdzewski, Barbara N.; Quinlan, Aaron; Rao, Deepak A.; Raper, Anna; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenwasser, Natalie; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A.; Scott, C. Ron; Shashi, Vandana; Shin, Jimann; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solnica-Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Kathleen; Sullivan, Jennifer A.; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Queenie K.-G.; Tan, Amelia L.M.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Ungar, Rachel A.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Wallace, Stephanie; Walley, Nicole M.; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Weisz Hubshman, Monika; Wener, Mark; Wenger, Tara; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Worley, Kim; Xiao, Changrui; Yamamoto, Shinya; Yang, John; Zhang, Zhe; Zuchner, Stephan; Nigro, Vincenzo; Torella, Annalaura; Morleo, Manuela; Spampanato, Carmine; Pinelli, Michele; Banfi, Sandro; Varavallo, Alessandra; Selicorni, Angelo; Mariani, Milena; Massimello, Marta; Daolio, Cecilia; Capra, Valeria; Accogli, Andrea; Scala, Marcello; Leuzzi, Vincenzo; Nardecchia, Francesca; Galosi, Serena; Mastrangelo, Mario; Milani, Donatella; Vitiello, Giuseppina; Piluso, Giulio; Romano, Corrado; Failla, Pinella; Greco, Donatella; Pantaleoni, Chiara; Ciaccio, Claudia; D’Arrigo, Stefano; Brunetti Pierri, Nicola; Parenti, Giancarlo; Coppola, Antonietta; Mattina, Teresa; Zollino, Marcella; Amenta, Simona; Tummolo, Albina; Santoro, Claudia; Grandone, Anna; De Brasi, Daniele; Varone, Antonio; Garavelli, Livia; Marini, Carla; Bigoni, Stefania; Piscopo, Carmelo; Trabacca, Antonio; De Rinaldis, Marta; Peron, Angela; Venditti, Rossella ; Theodorou, Evangelos ; Rosello, Marion ; Tirozzi, Alfonsina ; Tammaro, Roberta ; Al-Badri, Nour ; High, Frances A. ; Shi, Jiahai ; Putti, Elena ; Ferrante, Luigi ; Cetrangolo, Viviana ; Walker, Melissa A. ; Tenconi, Romano ; Iascone, Maria ; Mei, Davide ; Guerrini, Renzo ; van der Smagt, Jasper ; Kroes, Hester Y. ; van Gassen, Koen L.I. ; Bilal, Muhammad ; Umair, Muhammad ; Pingault, Veronica ; Attie-Bitach, Tania ; Amiel, Jeannine ; Ejaz, Resham ; Rodan, Lance ; Agrawal, Pankaj B. ; Del Bene, Filippo ; Franco, Brunella
In The American Journal of Human Genetics 3 August 2023 110(8):1377-1393
Academic Journal
Pochiero, Francesca; Mari, Francesco; Ramesh, Venkateswaran; Capra, Valeria; Mancardi, Margherita; Keren, Boris; Mignot, Cyiril; Lulli, Matteo; Parks, Kendall; Griffin, Helen; Brugger, Melanie; Nigro, Vincenzo; Hirata, Yuko; Koichihara, Reiko; Peterlin, Borut; Maki, Ryuto; Nitta, Yohei; Ambrose, John C.; Arumugam, Prabhu; Bevers, Roel; Bleda, Marta; Boardman-Pretty, Freya; Boustred, Christopher R.; Brittain, Helen; Brown, Matthew A.; Caulfield, Mark J.; Chan, Georgia C.; Giess, Adam; Griffin, John N.; Hamblin, Angela; Henderson, Shirley; Hubbard, Tim J.P.; Jackson, Rob; Jones, Louise J.; Kasperaviciute, Dalia; Kayikci, Melis; Kousathanas, Athanasios; Lahnstein, Lea; Lakey, Anna; Leigh, Sarah E.A.; Leong, Ivonne U.S.; Lopez, Javier F.; Maleady-Crowe, Fiona; McEntagart, Meriel; Minneci, Federico; Mitchell, Jonathan; Moutsianas, Loukas; Mueller, Michael; Murugaesu, Nirupa; Need, Anna C.; O’Donovan, Peter; Odhams, Chris A.; Patch, Christine; Perez-Gil, Daniel; Pereira, Marina B.; Pullinger, John; Rahim, Tahrima; Rendon, Augusto; Rogers, Tim; Savage, Kevin; Sawant, Kushmita; Scott, Richard H.; Siddiq, Afshan; Sieghart, Alexander; Smith, Samuel C.; Sosinsky, Alona; Stuckey, Alexander; Tanguy, Mélanie; Taylor Tavares, Ana Lisa; Thomas, Ellen R.A.; Thompson, Simon R.; Tucci, Arianna; Welland, Matthew J.; Williams, Eleanor; Witkowska, Katarzyna; Wood, Suzanne M.; Zarowiecki, Magdalena; Vetro, Annalisa ; Pelorosso, Cristiana ; Balestrini, Simona ; Masi, Alessio ; Hambleton, Sophie ; Argilli, Emanuela ; Conti, Valerio ; Giubbolini, Simone ; Barrick, Rebekah ; Bergant, Gaber ; Writzl, Karin ; Bijlsma, Emilia K. ; Brunet, Theresa ; Cacheiro, Pilar ; Mei, Davide ; Devlin, Anita ; Hoffer, Mariëtte J.V. ; Machol, Keren ; Mannaioni, Guido ; Sakamoto, Masamune ; Menezes, Manoj P. ; Courtin, Thomas ; Sherr, Elliott ; Parra, Riccardo ; Richardson, Ruth ; Roscioli, Tony ; Scala, Marcello ; von Stülpnagel, Celina ; Smedley, Damian ; Torella, Annalaura ; Tohyama, Jun ; Hamada, Keisuke ; Ogata, Kazuhiro ; Suzuki, Takashi ; Sugie, Atsushi ; van der Smagt, Jasper J. ; van Gassen, Koen ; Valence, Stephanie ; Vittery, Emma ; Malone, Stephen ; Kato, Mitsuhiro ; Matsumoto, Naomichi ; Ratto, Gian Michele ; Guerrini, Renzo
In The American Journal of Human Genetics 3 August 2023 110(8):1356-1376
Academic Journal
Rooney, Kathleen ; van der Laan, Liselot ; Trajkova, Slavica ; Haghshenas, Sadegheh ; Relator, Raissa ; Lauffer, Peter ; Vos, Niels ; Levy, Michael A. ; Brunetti-Pierri, Nicola ; Terrone, Gaetano ; Mignot, Cyril ; Keren, Boris ; de Villemeur, Thierry B. ; Volker-Touw, Catharina M.L. ; Verbeek, Nienke ; van der Smagt, Jasper J. ; Oegema, Renske ; Brusco, Alfredo ; Ferrero, Giovanni B. ; Misra-Isrie, Mala ; Hochstenbach, Ron ; Alders, Mariëlle ; Mannens, Marcel M.A.M. ; Sadikovic, Bekim ; van Haelst, Mieke M. ; Henneman, Peter
In Genetics in Medicine August 2023 25(8)
Academic Journal
Melland, Holly; Bumbak, Fabian; Kolesnik-Taylor, Anna; Ng-Cordell, Elise; John, Abinayah; Constantinou, Panayiotis; Joss, Shelagh; Larsen, Martin; Fagerberg, Christina; Laulund, Lone Walentin; Thies, Jenny; Emslie, Frances; Willemsen, Marjolein; Kleefstra, Tjitske; Pfundt, Rolf; Barrick, Rebekah; Chang, Richard; Loong, Lucy; Alfadhel, Majid; van der Smagt, Jasper; Nizon, Mathilde; Kurian, Manju A; Scott, Daniel J; Ziarek, Joshua J; Gordon, Sarah L; Baker, Kate
Genet Med
Genetics in Medicine, 24, 4, pp. 880-893
Melland, H, Bumbak, F, Kolesnik-Taylor, A, Ng-Cordell, E, John, A, Constantinou, P, Joss, S, Larsen, M, Fagerberg, C, Laulund, L W, Thies, J, Emslie, F, Willemsen, M, Kleefstra, T, Pfundt, R, Barrick, R, Chang, R, Loong, L, Alfadhel, M, van derSmagt , J, Nizon, M, Kurian, M, Scott, D J, Ziarek, J J, Gordon, S L & Baker, K 2022, ' Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 24, no. 4, pp. 880-893 . https://doi.org/10.1016/j.gim.2021.12.002
Genetics in Medicine, 24, 4, pp. 880-893
Melland, H, Bumbak, F, Kolesnik-Taylor, A, Ng-Cordell, E, John, A, Constantinou, P, Joss, S, Larsen, M, Fagerberg, C, Laulund, L W, Thies, J, Emslie, F, Willemsen, M, Kleefstra, T, Pfundt, R, Barrick, R, Chang, R, Loong, L, Alfadhel, M, van der
Academic Journal
Jansweijer, Joeri A.; van Spaendonck-Zwarts, Karin Y.; Tanck, Michael W. T.; van Tintelen, J. Peter; Christiaans, Imke; van der Smagt, Jasper; Vermeer, Alexa; Bos, J. Martijn; Moss, Arthur J.; Swan, Heikki; Priori, Sylvia; Rydberg, Annika; Tfelt-Hansen, Jacob; Ackerman, Michael; Olivotto, Iacopo; Charron, Philippe; Gimeno, Juan R.; van den Berg, Maarten; Wilde, Arthur; Pinto, Yigal M.
Open heart. 6(1)
Academic Journal
Noordermeer, Tessa; van Asten, Ivar; Schutgens, Roger E.G.; Lakerveld, Anke J.; Koekman, Cornelis A.; Hage, Kay Y.; Sebastian, Silvie A.E.; Huisman, Albert; van den Heuvel, Dave J.; Gerritsen, Hans C.; Korporaal, Suzanne J.A.; Bierings, Marc; van der Smagt, Jasper J.; van Gijn, Mariëlle E.; Urbanus, Rolf T.
Blood Advances. 6(11):3347-3351
Academic Journal
van der Vis, Joanne; Maus, Martijn; De Bie, Charlotte; Van Der Smagt, Jasper; Van Oosterhout, Matthijs; Grutters, Jan; Van Moorsel, Coline
Academic Journal
Muir, Alison M. ; Gardner, Jennifer F. ; van Jaarsveld, Richard H. ; de Lange, Iris M. ; van der Smagt, Jasper J. ; Wilson, Golder N. ; Dubbs, Holly ; Goldberg, Ethan M. ; Zitano, Lia ; Bupp, Caleb ; Martinez, Jose ; Srour, Myriam ; Accogli, Andrea ; Alhakeem, Afnan ; Meltzer, Meira ; Gropman, Andrea ; Brewer, Carole ; Caswell, Richard C. ; Montgomery, Tara ; McKenna, Caoimhe ; McKee, Shane ; Powell, Corinna ; Vasudevan, Pradeep C. ; Brady, Angela F. ; Joss, Shelagh ; Tysoe, Carolyn ; Noh, Grace ; Tarnopolsky, Mark ; Brady, Lauren ; Zafar, Muhammad ; Schrier Vergano, Samantha A. ; Murray, Brianna ; Sawyer, Lindsey ; Hainline, Bryan E. ; Sapp, Katherine ; DeMarzo, Danielle ; Huismann, Darcy J. ; Wentzensen, Ingrid M. ; Schnur, Rhonda E. ; Monaghan, Kristin G. ; Juusola, Jane ; Rhodes, Lindsay ; Dobyns, William B. ; Lecoquierre, Francois ; Goldenberg, Alice ; Polster, Tilman ; Axer-Schaefer, Susanne ; Platzer, Konrad ; Klöckner, Chiara ; Hoffman, Trevor L. ; MacArthur, Daniel G. ; O’Leary, Melanie C. ; VanNoy, Grace E. ; England, Eleina ; Varghese, Vinod C. ; Mefford, Heather C.
In Genetics in Medicine May 2021 23(5):881-887
Academic Journal
Bakshi, Madhura; Wilson, Meredith; Berman, Yemina; Dickson, Rebecca; Fransen, Erik; Helsmoortel, Céline; Van den Ende, Jenneke; Van der Aa, Nathalie; van de Wijdeven, Marina J.; Rosenblum, Jessica; Monteiro, Fabíola; Kok, Fernando; Quercia, Nada; Bowdin, Sarah; Dyment, David; Chitayat, David; Alkhunaizi, Ebba; Boonen, Susanne E.; Keren, Boris; Jacquette, Aurelia; Faivre, Laurence; Bezieau, Stephane; Isidor, Bertrand; Rieß, Angelika; Moog, Ute; Lynch, Sally Ann; McVeigh, Terri; Elpeleg, Orly; Smeland, Marie Falkenberg; Fannemel, Madeleine; van Haeringen, Arie; Maas, Saskia M.; Veenstra-Knol, H.E.; Schouten, Meyke; Willemsen, Marjolein H.; Marcelis, Carlo L.; Ockeloen, Charlotte; van der Burgt, Ineke; Feenstra, Ilse; van der Smagt, Jasper; Jezela-Stanek, Aleksandra; Krajewska-Walasek, Malgorzata; González-Lamuño, Domingo; Anderlid, Britt-Marie; Malmgren, Helena; Nordenskjöld, Magnus; Clement, Emma; Hurst, Jane; Metcalfe, Kay; Mansour, Sahar; Lachlan, Katherine; Clayton-Smith, Jill; Hendon, Laura G.; Abdulrahman, Omar A.; Morrow, Eric; McMillan, Clare; Gerdts, Jennifer; Peeden, Joseph; Schrier Vergano, Samantha A.; Valentino, Caitlin; Chung, Wendy K.; Ozmore, Jillian R.; Bedrosian-Sermone, Sandra; Dennis, Anna; Treat, Kayla; Hughes, Susan Starling; Safina, Nicole; Le Pichon, Jean-Baptiste; McGuire, Marianne; Infante, Elena; Madan-Khetarpal, Suneeta; Desai, Sonal; Benke, Paul; Krokosky, Alyson; Cristian, Ingrid; Baker, Laura; Gripp, Karen; Stessman, Holly A.; Eichenberger, Jacob; Jayakar, Parul; Pizzino, Amy; Manning, Melanie Ann; Slattery, Leah; Van Dijck, Anke ; Vulto-van Silfhout, Anneke T. ; Cappuyns, Elisa ; van der Werf, Ilse M. ; Mancini, Grazia M. ; Tzschach, Andreas ; Bernier, Raphael ; Gozes, Illana ; Eichler, Evan E. ; Romano, Corrado ; Lindstrand, Anna ; Nordgren, Ann ; Kvarnung, Malin ; Kleefstra, Tjitske ; de Vries, Bert B.A. ; Küry, Sébastien ; Rosenfeld, Jill A. ; Meuwissen, Marije E. ; Vandeweyer, Geert ; Kooy, R. Frank
In Biological Psychiatry 15 February 2019 85(4):287-297
Academic Journal
Vetro, Annalisa; Pelorosso, Cristiana; Balestrini, Simona; Masi, Alessio; Hambleton, Sophie; Argilli, Emanuela; Conti, Valerio; Giubbolini, Simone; Barrick, Rebekah; Bergant, Gaber; Writzl, Karin; Bijlsma, Emilia K.; Brunet, Theresa; Cacheiro, Pilar; Mei, Davide; Devlin, Anita; Hoffer, Mariëtte J.V.; Machol, Keren; Mannaioni, Guido; Sakamoto, Masamune; Menezes, Manoj P.; Courtin, Thomas; Sherr, Elliott; Parra, Riccardo; Richardson, Ruth; Roscioli, Tony; Scala, Marcello; von Stülpnagel, Celina; Smedley, Damian; Pochiero, Francesca; Mari, Francesco; Ramesh, Venkateswaran; Capra, Valeria; Mancardi, Margherita; Keren, Boris; Mignot, Cyiril; Lulli, Matteo; Parks, Kendall; Griffin, Helen; Brugger, Melanie; Nigro, Vincenzo; Hirata, Yuko; Koichihara, Reiko; Peterlin, Borut; Maki, Ryuto; Nitta, Yohei; Ambrose, John C.; Arumugam, Prabhu; van der Smagt, Jasper J.; van Gassen, Koen; Telethon Undiagnosed Diseases Program (TUDP) consortium; TMEM63B collaborators, The Genomics England Research Consortium
Academic Journal
Morleo, Manuela; Venditti, Rossella; Theodorou, Evangelos; Briere, Lauren C.; Rosello, Marion; Tirozzi, Alfonsina; Tammaro, Roberta; Al-Badri, Nour; High, Frances A.; Shi, Jiahai; Acosta, Maria T.; Adam, Margaret; Adams, David R.; Alvarez, Raquel L.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Bacino, Carlos A.; Bademci, Guney; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bellen, Hugo J.; Bennett, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; van der Smagt, Jasper; Kroes, Hester Y.; van Gassen, Koen L.I.; Undiagnosed Diseases Network; Telethon Undiagnosed Diseases Program
Academic Journal
Cosgun, Betül; Reinders, Marie G. H. C.; van Geel, Michel; Steijlen, Peter M.; van Hout, Antonius F. W.; Leter, Edward M.; van der Smagt, Jasper J.; van Hagen, Johanna M.; Berger, Lieke P. V.; Kets, C. Marleen; Wagner, Anja; Aalfs, Cora M.; Hes, Frederik J.; van der Kolk, Lizet E.; Gille, Johan J. P.; Mosterd, Klara
Journal of the American Academy of Dermatology. 83(2):604-607
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