학술논문
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Academic Journal
Delanne, Julian; Lecat, Magaly; Blackburn, Patrick R.; Klee, Eric W.; Stumpel, Constance T.R.M.; Stegmann, Sander; Stevens, Servi J.C.; Nava, Caroline; Heron, Delphine; Keren, Boris; Mahida, Sonal; Naidu, Sakkubai; Babovic-Vuksanovic, Dusica; Herkert, Johanna C.; Torring, Pernille M.; Kibæk, Maria; De Bie, Isabelle; Pfundt, Rolph; Hendriks, Yvonne M.C.; Ousager, Lilian Bomme; Bend, Renee; Warren, Hannah; Skinner, Steven A.; Lyons, Michael J.; Pöe, Charlotte; Chevarin, Martin; Jouan, Thibaud; Garde, Aurore; Thomas, Quentin; Kuentz, Paul; Tisserant, Emilie; Duffourd, Yannis; Philippe, Christophe; Faivre, Laurence; Thauvin-Robinet, Christel
In European Journal of Medical Genetics January 2023 66(1)
Academic Journal
Boone, Philip; Faour, Kamli; Mohajeri, Kiana; Lemanski, John; Jana, Bimal; Fu, Jack; Kerkhof, Jennifer; McConkey, Haley; Collins, Ryan; Lucente, Diane; de Esch, Celine; Moysés-Oliveira, Mariana; Nuttle, Alexander; Domingo, Aloysius; Erdin, Serkan; Hanley, Maris; Watt, Amy; Surette, Eric; Lima, Gloria; Smith, Laura; Salani, Monica; Yadav, Rachita; Harripaul, Ricardo; O’Keefe, Kathryn; Burt, Nicholas; Larson, Matthew; Bhavsar, Riya; Currall, Benjamin; Sell, Susan; Ladda, Roger; Immken, LaDonna; Buchanan, Catherine; Yuan, Bo; Lynch, Sally; Gilissen, Christian; Pfundt, Rolph; Ockeloen, Charlotte; Kleefstra, Tjitske; Vanhoutte, Els; Sinnema, Margje; Stegmann, Sander; Stevens, Servi; Iascone, Maria; Maitz, Silvia; Cogne, Benjamin; Le Caignec, Cedric; Vincent, Marie; Nizon, Mathilde; Male, Alison; Agrawal, Pankaj; Thompson, Michelle; Torring, Pernille; Brasch-Andersen, Charlotte; Faivre, Laurence; Bruel, Ange-Line; Isidor, Bertrand; Philippe, Christophe; Morleo, Manuela; Wojcik, Monica; Genetti, Casie; Srivastava, Siddharth; Ballal, Sonia; Schließke, Sophia; Jamra, Rami Abou; Delahaye, Andree; von Wintzingerode, Lydia; Bothe, Viktoria; Houlier, Marine; Stout, Timothy; Bergant, Gaber; Peterlin, Borut; Moldovan, Oana; Martínez-Gil, Núria; Argilli, Emanuela; Sherr, Elliott; Harel, Tamar; Rosenberg-Fogler, Hallel; Rosenfeld, Jill; Wentzensen, Ingrid; Westphal, Dominik; Riedhammer, Korbinian; Orec, Laura; Gusella, James; Sadikovic, Bekim; Tai, Derek; Talkowski, Michael
In Genetics in Medicine Open 2023 1(1) Supplement
Periodical
Peluso, Francesca; Caraffi, Stefano G; Contrò, Gianluca; Valeri, Lara; Napoli, Manuela; Carboni, Giorgia; Seth, Alka; Zuntini, Roberta; Coccia, Emanuele; Astrea, Guja; Bisgaard, Anne-Marie; Ivanovski, Ivan; Maitz, Silvia; Brischoux-Boucher, Elise; Carter, Melissa T; Dentici, Maria Lisa; Devriendt, Koenraad; Bellini, Melissa; Digilio, Maria Cristina; Doja, Asif; Dyment, David A; Farholt, Stense; Ferreira, Carlos R; Wolfe, Lynne A; Gahl, William A; Gnazzo, Maria; Goel, Himanshu; Grønborg, Sabine Weller; Hammer, Trine; Iughetti, Lorenzo; Kleefstra, Tjitske; Koolen, David A; Lepri, Francesca Romana; Lemire, Gabrielle; Louro, Pedro; McCullagh, Gary; Madeo, Simona F; Milone, Annarita; Milone, Roberta; Nielsen, Jens Erik Klint; Novelli, Antonio; Ockeloen, Charlotte W.; Pascarella, Rosario; Pippucci, Tommaso; Ricca, Ivana; Robertson, Stephen P; Sawyer, Sarah; Falkenberg Smeland, Marie; Stegmann, Sander; Stumpel, Constanze T; Goel, Amy; Taylor, Juliet M; Barbuti, Domenico; Soresina, Annarosa; Bedeschi, Maria Francesca; Battini, Roberta; Cavalli, Anna; Fusco, Carlo; Iascone, Maria; Van Maldergem, Lionel; Venkateswaran, Sunita; Zuffardi, Orsetta; Vergano, Samantha; Garavelli, Livia; Bayat, Allan
Journal of Medical Genetics (JMG); 2023, Vol. 60 Issue: 12 p1224-1234, 11p
Academic Journal
O'Rawe, Jason A.; Wu, Yiyang; Dorfel, Max J.; Rope, Alan F.; Au, P.Y. Billie; Parboosingh, Jillian S.; Moon, Sungjin; Kousi, Maria; Kosma, Konstantina; Smith, Christopher S.; Tzetis, Maria; Schuette, Jane L.; Hufnagel, Robert B.; Prada, Carlos E.; Martinez, Francisco; Orellana, Carmen; Crain, Jonathan; Caro-Llopis, Alfonso; Oltra, Silvestre; Monfort, Sandra; Jimenez-Barron, Laura T.; Swensen, Jeffrey; Ellingwood, Sara; Smith, Rosemarie; Fang, Han; Ospina, Sandra; Stegmann, Sander; Hollander, Nicolette Den; Mittelman, David; Highnam, Gareth; Robison, Reid; Yang, Edward; Faivre, Laurence; Roubertie, Agathe; Riviere, Jean-Baptiste; Monaghan, Kristin G.; Wang, Kai; Davis, Erica E.; Katsanis, Nicholas; Kalscheuer, Vera M.; Wang, Edith H.; Metcalfe, Kay; Kleefstra, Tjitske; Innes, A. Micheil; Kitsiou-Tzeli, Sophia; Rosello, Monica; Keegan, Catherine E.; Lyon, Gholson J.
American Journal of Human Genetics. Dec 3, 2015, Vol. 97 Issue 6, p922, 11 p.
Periodical
Fountain, Michael D.; Aten, Emmelien; Cho, Megan T.; Juusola, Jane; Walkiewicz, Magdalena A.; Ray, Joseph W.; Xia, Fan; Yang, Yaping; Graham, Brett H.; Bacino, Carlos A.; Potocki, Lorraine; van Haeringen, Arie; Ruivenkamp, Claudia A.L.; Mancias, Pedro; Northrup, Hope; Kukolich, Mary K.; Weiss, Marjan M.; van Ravenswaaij-Arts, Conny M.A.; Mathijssen, Inge B.; Levesque, Sebastien; Meeks, Naomi; Rosenfeld, Jill A.; Lemke, Danielle; Hamosh, Ada; Lewis, Suzanne K.; Race, Simone; Stewart, Laura L.; Hay, Beverly; Lewis, Andrea M.; Guerreiro, Rita L.; Bras, Jose T.; Martins, Marcia P.; Derksen-Lubsen, Gerarda; Peeters, Els; Stumpel, Connie; Stegmann, Sander; Bok, Levinus A.; Santen, Gijs W.E.; Schaaf, Christian P.
Genetics in Medicine; January 2017, Vol. 19 Issue: 1 p45-52, 8p
Academic Journal
Steyaert, Wouter; Steehouwer, Marloes; Haer-Wigman, Lonneke; Pfundt, Rolph; Stegmann, Sander; de Boer, Elke; Yntema, Helger; Brunner, Han; Hoischen, Alexander; Gilissen, Christian
Academic Journal
Gu, Jing Jin; Stegmann, Sander; Gathy, Karen; Murray, Robert; Laliberte, Josee; Ayscue, Lanier; Mitchell, Beverly S.
The Journal of Clinical Investigation. Aug 01, 2000 106(4):599-606
Academic Journal
Fountain, Michael D.; Aten, Emmelien; Cho, Megan T.; Juusola, Jane; Walkiewicz, Magdalena A.; Ray, Joseph W.; Xia, Fan; Yang, Yaping; Graham, Brett H.; Bacino, Carlos A.; Potocki, Lorraine; van Haeringen, Arie; Ruivenkamp, Claudia A. L.; Mancias, Pedro; Northrup, Hope; Kukolich, Mary K.; Weiss, Marjan M.; van Ravenswaaij-Arts, Conny M. A.; Mathijssen, Inge B.; Levesque, Sebastien; Meeks, Naomi; Rosenfeld, Jill A.; Lemke, Danielle; Hamosh, Ada; Lewis, Suzanne K.; Race, Simone; Stewart, Laura L.; Hay, Beverly; Lewis, Andrea M.; Guerreiro, Rita L.; Bras, Jose T.; Martins, Marcia P.; Derksen-Lubsen, Gerarda; Peeters, Els; Stumpel, Connie; Stegmann, Sander; Bok, Levinus A.; Santen, Gijs W. E.; Schaaf, Christian P.
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