학술논문
'학술논문'
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1~10
Academic Journal
Alstrup, Morten; Cesca, Fabrizia; Krawczun-Rygmaczewska, Alicja; López-Menéndez, Celia; Pose-Utrilla, Julia; Castberg, Filip Christian; Bjerager, Mia Ortved; Finnila, Candice; Kruer, Michael C.; Bakhtiari, Somayeh; Padilla-Lopez, Sergio; Manwaring, Linda; Keren, Boris; Afenjar, Alexandra; Galatolo, Daniele; Scalise, Roberta; Santorelli, Fillippo M.; Shillington, Amelle; Vezain, Myriam; Martinovic, Jelena; Stevens, Cathy; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Thiffault, Isabelle; Pastinen, Tomi; Baranano, Kristin; Lee, Angela; Granadillo, Jorge; Glassford, Megan R.; Keegan, Catherine E.; Matthews, Nicole; Saugier-Veber, Pascale; Iglesias, Teresa; Østergaard, Elsebet
In Genetics in Medicine November 2024 26(11)
Academic Journal
den Hoed, Joery; de Boer, Elke; Voisin, Norine; Dingemans, Alexander; Guex, Nicolas; Wiel, Laurens; Nellaker, Christoffer; Amudhavalli, Shivarajan; Banka, Siddharth; Bena, Frederique; Ben-Zeev, Bruria; Bonagura, Vincent; Bruel, Ange-Line; Brunet, Theresa; Brunner, Han; Chew, Hui; Chrast, Jacqueline; Cimbalistienė, Loreta; Coon, Hilary; Délot, Emmanuèlle; Démurger, Florence; Denommé-Pichon, Anne-Sophie; Depienne, Christel; Donnai, Dian; Dyment, David; Elpeleg, Orly; Faivre, Laurence; Gilissen, Christian; Granger, Leslie; Haber, Benjamin; Hachiya, Yasuo; Abedi, Yasmin; Hanebeck, Jennifer; Hehir-Kwa, Jayne; Horist, Brooke; Itai, Toshiyuki; Jackson, Adam; Jewell, Rosalyn; Jones, Kelly; Joss, Shelagh; Kashii, Hirofumi; Kato, Mitsuhiro; Kattentidt-Mouravieva, Anja; Kok, Fernando; Kotzaeridou, Urania; Krishnamurthy, Vidya; Kučinskas, Vaidutis; Kuechler, Alma; Lavillaureix, Alinoë; Liu, Pengfei; Manwaring, Linda; Matsumoto, Naomichi; Mazel, Benoît; McWalter, Kirsty; Meiner, Vardiella; Mikati, Mohamad; Miyatake, Satoko; Mizuguchi, Takeshi; Moey, Lip; Mohammed, Shehla; Mor-Shaked, Hagar; Mountford, Hayley; Newbury-Ecob, Ruth; Odent, Sylvie; Orec, Laura; Osmond, Matthew; Palculict, Timothy; Parker, Michael; Petersen, Andrea; Pfundt, Rolph; Preikšaitienė, Eglė; Radtke, Kelly; Ranza, Emmanuelle; Rosenfeld, Jill; Santiago-Sim, Teresa; Schwager, Caitlin; Sinnema, Margje; Snijders Blok, Lot; Spillmann, Rebecca; Stegmann, Alexander; Thiffault, Isabelle; Tran, Linh; Vaknin-Dembinsky, Adi; Vedovato-Dos-Santos, Juliana; Schrier Vergano, Samantha; Vilain, Eric; Vitobello, Antonio; Wagner, Matias; Waheeb, Androu; Willing, Marcia; Zuccarelli, Britton; Kini, Usha; Newbury, Dianne; Kleefstra, Tjitske; Reymond, Alexandre; Fisher, Simon; Vissers, Lisenka
American Journal of Human Genetics. 108(2)
Academic Journal
Bryant, Laura; Li, Dong; Cox, Samuel G; Marchione, Dylan; Joiner, Evan F; Wilson, Khadija; Janssen, Kevin; Lee, Pearl; March, Michael E; Nair, Divya; Sherr, Elliott; Fregeau, Brieana; Wierenga, Klaas J; Wadley, Alexandrea; Mancini, Grazia MS; Powell-Hamilton, Nina; van de Kamp, Jiddeke; Grebe, Theresa; Dean, John; Ross, Alison; Crawford, Heather P; Powis, Zoe; Cho, Megan T; Willing, Marcia C; Manwaring, Linda; Schot, Rachel; Nava, Caroline; Afenjar, Alexandra; Lessel, Davor; Wagner, Matias; Klopstock, Thomas; Winkelmann, Juliane; Catarino, Claudia B; Retterer, Kyle; Schuette, Jane L; Innis, Jeffrey W; Pizzino, Amy; Lüttgen, Sabine; Denecke, Jonas; Strom, Tim M; Monaghan, Kristin G; DDD Study; Yuan, Zuo-Fei; Dubbs, Holly; Bend, Renee; Lee, Jennifer A; Lyons, Michael J; Hoefele, Julia; Günthner, Roman; Reutter, Heiko; Keren, Boris; Radtke, Kelly; Sherbini, Omar; Mrokse, Cameron; Helbig, Katherine L; Odent, Sylvie; Cogne, Benjamin; Mercier, Sandra; Bezieau, Stephane; Besnard, Thomas; Kury, Sebastien; Redon, Richard; Reinson, Karit; Wojcik, Monica H; Õunap, Katrin; Ilves, Pilvi; Innes, A Micheil; Kernohan, Kristin D; Care4Rare Canada Consortium; Costain, Gregory; Meyn, M Stephen; Chitayat, David; Zackai, Elaine; Lehman, Anna; Kitson, Hilary; CAUSES Study; Martin, Martin G; Martinez-Agosto, Julian A; Undiagnosed Diseases Network; Nelson, Stan F; Palmer, Christina GS; Papp, Jeanette C; Parker, Neil H; Sinsheimer, Janet S; Vilain, Eric; Wan, Jijun; Yoon, Amanda J; Zheng, Allison; Brimble, Elise; Ferrero, Giovanni Battista; Radio, Francesca Clementina; Carli, Diana; Barresi, Sabina; Brusco, Alfredo; Tartaglia, Marco; Thomas, Jennifer Muncy; Umana, Luis; Weiss, Marjan M; Gotway, Garrett; Stuurman, KE
Science advances. 6(49)
Academic Journal
Bruel, Ange-Line; Vitobello, Antonio; Thiffault, Isabelle; Manwaring, Linda; Willing, Marcia; Agrawal, Pankaj B.; Bayat, Allan; Kitzler, Thomas M.; Brownstein, Catherine A.; Genetti, Casie A.; Gonzalez-Heydrich, Joseph; Jayakar, Parul; Zyskind, Jacob W.; Zhu, Zehua; Vachet, Clemence; Wilson, Gena R.; Pruniski, Brianna; Goyette, Anne-Marie; Duffourd, Yannis; Thauvin-Robinet, Christel; Philippe, Christophe; Faivre, Laurence
European Journal of Human Genetics. 30(1):111-116
Academic Journal
Rodrigo Tzovenos Starosta; Ying-Chen Claire Hou; Katelyn Leestma; Prapti Singh; Luke Viehl; Linda Manwaring; Jorge Luis Granadillo; Molly C. Schroeder; Jamie N. Colombo; Halana Whitehead; Patricia Irene Dickson; Monica L. Hulbert; Hoanh Thi Nguyen
Frontiers in Pediatrics, Vol 10 (2022)
Academic Journal
Okur, Volkan; Cho, Megan T.; van Wijk, Richard; van Oirschot, Brigitte; Picker, Jonathan; Coury, Stephanie A.; Grange, Dorothy; Manwaring, Linda; Krantz, Ian; Muraresku, Colleen Clark; Hulick, Peter J.; May, Holley; Pierce, Eric; Place, Emily; Bujakowska, Kinga; Telegrafi, Aida; Douglas, Ganka; Monaghan, Kristin G.; Begtrup, Amber; Wilson, Ashley; Retterer, Kyle; Anyane-Yeboa, Kwame; Chung, Wendy K.
European Journal of Human Genetics. 27(7):1081-1089
Academic Journal
Starosta, Rodrigo Tzovenos; Hou, Ying-Chen Claire; Leestma, Katelyn; Singh, Prapti; Viehl, Luke; Manwaring, Linda; Granadillo, Jorge Luis; Schroeder, Molly C.; Colombo, Jamie N.; Whitehead, Halana; Dickson, Patricia Irene; Hulbert, Monica L.; Nguyen, Hoanh Thi
Academic Journal
Bruel, Ange-Line; Vitobello, Antonio; Thiffault, Isabelle; Manwaring, Linda; Willing, Marcia; Agrawal, Pankaj B.; Bayat, Allan; Kitzler, Thomas M.; Brownstein, Catherine A.; Genetti, Casie A.; Gonzalez-Heydrich, Joseph; Jayakar, Parul; Zyskind, Jacob W.; Zhu, Zehua; Vachet, Clemence; Wilson, Gena R.; Pruniski, Brianna; Goyette, Anne-Marie; Duffourd, Yannis; Thauvin-Robinet, Christel; Philippe, Christophe; Faivre, Laurence
Academic Journal
Zhang, Bin; Willing, Marcia; Grange, Dorothy K.; Shinawi, Marwan; Manwaring, Linda; Vineyard, Marisa; Kulkarni, Shashikant; Cottrell, Catherine E.
American Journal Of Medical Genetics - A. Mar 01, 2016 170(3):583-593
Academic Journal
DeSanto, Cori; DʼAco, Kristin; Araujo, Gabriel C; Shannon, Nora; Study, DDD; Vernon, Hilary; Rahrig, April; Monaghan, Kristin G; Niu, Zhiyv; Vitazka, Patrik; Dodd, Jonathan; Tang, Sha; Manwaring, Linda; Martir-Negron, Arelis; Schnur, Rhonda E; Juusola, Jane; Schroeder, Audrey; Pan, Vivian; Helbig, Katherine L; Friedman, Bethany; Shinawi, Marwan
Journal of Medical Genetics. Nov 01, 2015 52(11):754-761
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