학술논문
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Academic Journal
Robertson, Kent A; Nalepa, Grzegorz; Yang, Feng-Chun; Bowers, Daniel C; Ho, Chang Y; Hutchins, Gary D; Croop, James M; Vik, Terry A; Denne, Scott C; Parada, Luis F; Hingtgen, Cynthia M; Walsh, Laurence E; Yu, Menggang; Pradhan, Kamnesh R; Edwards-Brown, Mary K; Cohen, Mervyn D; Fletcher, James W; Travers, Jeffrey B; Staser, Karl W; Lee, Melissa W; Sherman, Marcie R; Davis, Cynthia J; Miller, Lucy C; Ingram, David A; Clapp, D Wade
In Lancet Oncology December 2012 13(12):1218-1224
Academic Journal
Koczkowska, Magdalena; Callens, Tom; Gomes, Alicia; Sharp, Angela; Chen, Yunjia; Hicks, Alesha D; Aylsworth, Arthur S; Azizi, Amedeo A; Basel, Donald G; Bellus, Gary; Bird, Lynne M; Blazo, Maria A; Burke, Leah W; Cannon, Ashley; Collins, Felicity; DeFilippo, Colette; Denayer, Ellen; Digilio, Maria C; Dills, Shelley K; Dosa, Laura; Greenwood, Robert S; Griffis, Cristin; Gupta, Punita; Hachen, Rachel K; Hernández-Chico, Concepción; Janssens, Sandra; Jones, Kristi J; Jordan, Justin T; Kannu, Peter; Korf, Bruce R; Lewis, Andrea M; Listernick, Robert H; Lonardo, Fortunato; Mahoney, Maurice J; Ojeda, Mayra Martinez; McDonald, Marie T; McDougall, Carey; Mendelsohn, Nancy; Miller, David T; Mori, Mari; Oostenbrink, Rianne; Perreault, Sebastién; Pierpont, Mary Ella; Piscopo, Carmelo; Pond, Dinel A; Randolph, Linda M; Rauen, Katherine A; Rednam, Surya; Rutledge, S Lane; Saletti, Veronica; Schaefer, G Bradley; Schorry, Elizabeth K; Scott, Daryl A; Shugar, Andrea; Siqveland, Elizabeth; Starr, Lois J; Syed, Ashraf; Trapane, Pamela L; Ullrich, Nicole J; Wakefield, Emily G; Walsh, Laurence E; Wangler, Michael F; Zackai, Elaine; Claes, Kathleen BM; Wimmer, Katharina; van Minkelen, Rick; De Luca, Alessandro; Martin, Yolanda; Legius, Eric; Messiaen, Ludwine M
Genetics in Medicine. 21(4)
Electronic Resource
Stegmann, Jil D; Kalanithy, Jeshurun C; Dworschak, Gabriel C; Ishorst, Nina; Mingardo, Enrico; Lopes, Filipa M; Ho, Yee Mang; Grote, Phillip; Lindenberg, Tobias T; Yilmaz, Öznur; Channab, Khadija; Seltzsam, Steve; Shril, Shirlee; Hildebrandt, Friedhelm; Boschann, Felix; Heinen, André; Jolly, Angad; Myers, Katherine; McBride, Kim; Bekheirnia, Mir Reza; Bekheirnia, Nasim; Scala, Marcello; Morleo, Manuela; Nigro, Vincenzo; Torella, Annalaura; Pinelli, Michele; Capra, Valeria; Accogli, Andrea; Maitz, Silvia; Spano, Alice; Olson, Rory J; Klee, Eric W; Lanpher, Brendan C; Jang, Se Song; Chae, Jong-Hee; Steinbauer, Philipp; Rieder, Dietmar; Janecke, Andreas R; Vodopiutz, Julia; Vogel, Ida; Blechingberg, Jenny; Cohen, Jennifer L; Riley, Kacie; Klee, Victoria; Walsh, Laurence E; Begemann, Matthias; Elbracht, Miriam; Eggermann, Thomas; Stuurman, Kyra; van Slegtenhorst, Marjon
Stegmann , J D , Kalanithy , J C , Dworschak , G C , TUDP consortium , Ishorst , N , Mingardo , E , Lopes , F M , Ho , Y M , Grote , P , Lindenberg , T T , Yilmaz , Ö , Channab , K , Seltzsam , S , Shril , S , Hildebrandt , F , Boschann , F , Heinen , A , Jolly , A , Myers , K , McBride , K , Bekheirnia , M R , Bekheirnia , N , Scala , M , Morleo , M , Nigro , V , Torella , A , Pinelli , M , Capra , V , Accogli , A , Maitz , S , Spano , A , Olson , R J , Klee , E W , Lanpher , B C , Jang , S S , Chae , J-H , Steinbauer , P , Rieder , D , Janecke , A R , Vodopiutz , J , Vogel , I , Blechingberg , J , Cohen , J L , Riley , K , Klee , V , Walsh , L E , Begemann , M , Elbracht , M , Eggermann , T , Stuurman , K & van Slegtenhorst , M 2024 , ' Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies ' , npj Genomic Medicine , vol. 9 , no. 1 , 18 .
Academic Journal
Skraban, Cara M; Wells, Constance F; Markose, Preetha; Cho, Megan T; Nesbitt, Addie I; Au, PY Billie; Begtrup, Amber; Bernat, John A; Bird, Lynne M; Cao, Kajia; de Brouwer, Arjan PM; Denenberg, Elizabeth H; Douglas, Ganka; Gibson, Kristin M; Grand, Katheryn; Goldenberg, Alice; Innes, A Micheil; Juusola, Jane; Kempers, Marlies; Kinning, Esther; Markie, David M; Owens, Martina M; Payne, Katelyn; Person, Richard; Pfundt, Rolph; Stocco, Amber; Turner, Claire LS; Verbeek, Nienke E; Walsh, Laurence E; Warner, Taylor C; Wheeler, Patricia G; Wieczorek, Dagmar; Wilkens, Alisha B; Zonneveld-Huijssoon, Evelien; Study, Deciphering Developmental Disorders; Kleefstra, Tjitske; Robertson, Stephen P; Santani, Avni; van Gassen, Koen LI; Deardorff, Matthew A
American Journal of Human Genetics. 101(1)
Electronic Resource
Genetica Klinische Genetica; Child Health; Genetica Sectie Genoomdiagnostiek; Harris, Holly K; Nakayama, Tojo; Lai, Jenny; Zhao, Boxun; Argyrou, Nikoleta; Gubbels, Cynthia S; Soucy, Aubrie; Genetti, Casie A; Suslovitch, Victoria; Rodan, Lance H; Tiller, George E; Lesca, Gaetan; Gripp, Karen W; Asadollahi, Reza; Hamosh, Ada; Applegate, Carolyn D; Turnpenny, Peter D; Simon, Marleen E H; Volker-Touw, Catharina M L; Gassen, Koen L I van; Binsbergen, Ellen van; Pfundt, Rolph; Gardeitchik, Thatjana; Vries, Bert B A de; Immken, LaDonna L; Buchanan, Catherine; Willing, Marcia; Toler, Tomi L; Fassi, Emily; Baker, Laura; Vansenne, Fleur; Wang, Xiadong; Ambrus, Julian L; Fannemel, Madeleine; Posey, Jennifer E; Agolini, Emanuele; Novelli, Antonio; Rauch, Anita; Boonsawat, Paranchai; Fagerberg, Christina R; Larsen, Martin J; Kibaek, Maria; Labalme, Audrey; Poisson, Alice; Payne, Katelyn K; Walsh, Laurence E; Aldinger, Kimberly A; Balciuniene, Jorune; Skraban, Cara; Gray, Christopher; Murrell, Jill; Bupp, Caleb P; Pascolini, Giulia; Grammatico, Paola; Broly, Martin; Küry, Sébastien; Nizon, Mathilde; Rasool, Iqra Ghulam; Zahoor, Muhammad Yasir; Kraus, Cornelia; Reis, André; Iqbal, Muhammad; Uguen, Kevin; Audebert-Bellanger, Severine; Ferec, Claude; Redon, Sylvia; Baker, Janice; Wu, Yunhong; Zampino, Guiseppe; Syrbe, Steffan; Brosse, Ines; Jamra, Rami Abou; Dobyns, William B; Cohen, Lilian L; Blomhoff, Anne; Mignot, Cyril; Keren, Boris; Courtin, Thomas; Agrawal, Pankaj B; Beggs, Alan H; Yu, Timothy W
Academic Journal
Kortüm, Fanny; Das, Soma; Flindt, Max; Morris-Rosendahl, Deborah J; Stefanova, Irina; Goldstein, Amy; Horn, Denise; Klopocki, Eva; Kluger, Gerhard; Martin, Peter; Rauch, Anita; Roumer, Agathe; Saitta, Sulagna; Walsh, Laurence E; Wieczorek, Dagmar; Uyanik, Gökhan; Kutsche, Kerstin; Dobyns, William B
Journal of Medical Genetics. Jun 01, 2011 48(6):396-406
Academic Journal
Nelson, Robert P, Jr; Pascuzzi, Robert M; Kessler, Kenneth; Walsh, Laurence E; Faught, Phillip P; Ramanuja, Srinivasan; Pescovitz, Mark D; Loehrer, Patrick J, Sr
Journal of Clinical Neuromuscular Disease. Jun 01, 2009 10(4):170-177
Electronic Resource
Genetica; Genetica Klinische Genetica; Child Health; Genetica Sectie Genoomdiagnostiek; Skraban, Cara M; Wells, Constance F; Markose, Preetha; Cho, Megan T.; Nesbitt, Addie I; Au, P Y Billie; Begtrup, Amber; Bernat, John A; Bird, Lynne M.; Cao, Kajia; de Brouwer, Arjan P M; Denenberg, Elizabeth H; Douglas, Ganka; Gibson, Kristin M; Grand, Katheryn; Goldenberg, Alice; Innes, A. Micheil; Juusola, Jane; Kempers, Marlies; Kinning, Esther; Markie, David M; Owens, Martina M; Payne, Katelyn; Person, Richard; Pfundt, Rolph; Stocco, Amber; Turner, Claire L S; Verbeek, Nienke E.; Walsh, Laurence E; Warner, Taylor C; Wheeler, Patricia G.; Wieczorek, Dagmar; Wilkens, Alisha B; Zonneveld-Huijssoon, Evelien; Kleefstra, Tjitske; Robertson, Stephen P.; Santani, Avni; van Gassen, Koen L.I.; Deardorff, Matthew A
Academic Journal
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