학술논문
'학술논문'
에서 검색결과 135건 | 목록
30~40
Academic Journal
Grozeva, Detelina; Carss, Keren; Spasic-Boskovic, Olivera; Tejada, Maria-Isabel; Gecz, Jozef; Shaw, Marie; Corbett, Mark; Haan, Eric; Thompson, Elizabeth; Friend, Kathryn; Hussain, Zaamin; Hackett, Anna; Field, Michael; Renieri, Alessandra; Stevenson, Roger; Schwartz, Charles; Floyd, James A.B.; Bentham, Jamie; Cosgrove, Catherine; Keavney, Bernard; Bhattacharya, Shoumo; Hurles, Matthew; Raymond, Lucy F.
Human Mutation. Dec 01, 2015 36(12):1197-1204
Academic Journal
Guy, Michael P.; Shaw, Marie; Weiner, Catherine L.; Hobson, Lynne; Stark, Zornitza; Rose, Katherine; Kalscheuer, Vera M.; Gecz, Jozef; Phizicky, Eric M.
Human Mutation. Dec 01, 2015 36(12):1176-1187
Academic Journal
Kumar, Raman; Corbett, Mark A.; van Bon, Bregje W.M.; Woenig, Joshua A.; Weir, Lloyd; Douglas, Evelyn; Friend, Kathryn L.; Gardner, Alison; Shaw, Marie; Jolly, Lachlan A.; Tan, Chuan; Hunter, Matthew F.; Hackett, Anna; Field, Michael; Palmer, Elizabeth E.; Leffler, Melanie; Rogers, Carolyn; Boyle, Jackie; Bienek, Melanie; Jensen, Corinna
Academic Journal
Jackson, Matilda R.; Loring, Karagh E.; Homan, Claire C.; Thai, Monica H. N.; Maattanen, Laura; Arvio, Maria; Jarvela, Irma; Shaw, Marie; Gardner, Alison; Gecz, Jozef; Shoubridge, Cheryl
Periodical
Kumar, Raman; Ha, Thuong; Pham, Duyen; Shaw, Marie; Mangelsdorf, Marie; Friend, Kathryn L; Hobson, Lynne; Turner, Gillian; Boyle, Jackie; Field, Michael; Hackett, Anna; Corbett, Mark; Gecz, Jozef
European Journal of Human Genetics: EJHG; November 2016, Vol. 24 Issue: 11 p1612-1616, 5p
Academic Journal
Cheng, Hanyin; Dharmadhikari, Avinash V.; Varland, Sylvia; Ma, Ning; Domingo, Deepti; Kleyner, Robert; Rope, Alan F.; Yoon, Margaret; Stray-Pedersen, Asbjorg; Posey, Jennifer E.; Crews, Sarah R.; Eldomery, Mohammad K.; Akdemir, Zeynep Coban; Lewis, Andrea M.; Sutton, Vernon R.; Rosenfeld, Jill A.; Conboy, Erin; Agre, Katherine; Xia, Fan; Walkiewicz, Magdalena; Longoni, Mauro; High, Frances A.; van Slegtenhorst, Marjon A.; Mancini, Grazia M.S.; Finnila, Candice R.; van Haeringen, Arie; den Hollander, Nicolette; Ruivenkamp, Claudia; Naidu, Sakkubai; Mahida, Sonal; Palmer, Elizabeth E.; Murray, Lucinda; Lim, Derek; Jayakar, Parul; Parker, Michael J.; Giusto, Stefania; Stracuzzi, Emanuela; Romano, Corrado; Beighley, Jennifer S.; Bernier, Raphael A.; Kury, Sebastien; Nizon, Mathilde; Corbett, Mark A.; Shaw, Marie; Gardner, Alison; Barnett, Christopher; Armstrong, Ruth; Kassahn, Karin S.; Van Dijck, Anke; Vandeweyer, Geert; Kleefstra, Tjitske; Schieving, Jolanda; Jongmans, Marjolijn J.; de Vries, Bert B.A.; Pfundt, Rolph; Kerr, Bronwyn; Rojas, Samantha K.; Boycott, Kym M.; Person, Richard; Willaert, Rebecca; Eichler, Evan E.; Kooy, R. Frank; Yang, Yaping; Wu, Joseph C.; Lupski, James R.; Arnesen, Thomas; Cooper, Gregory M.; Chung, Wendy K.; Gecz, Jozef; Stessman, Holly A.F.; Meng, Linyan; Lyon, Gholson J.
American Journal of Human Genetics. May 3, 2018, Vol. 102 Issue 5, 985
Academic Journal
Aref-Eshghi, Erfan; Kerkhof, Jennifer; Pedro, Victor P.; Barat-Houari, Mouna; Ruiz-Pallares, Nathalie; Andrau, Jean-Christophe; Lacombe, Didier; Van-Gils, Julien; Fergelot, Patricia; Dubourg, Christele; Cormier-Daire, Valerie; Rondeau, Sophie; Lecoquierre, Francois; Saugier-Veber, Pascale; Nicolas, Gael; Lesca, Gaetan; Chatron, Nicolas; Sanlaville, Damien; Vitobello, Antonio; Faivre, Laurence; Thauvin-Robinet, Christel; Laumonnier, Frederic; Raynaud, Martine; Alders, Marielle; Mannens, Marcel; Henneman, Peter; Hennekam, Raoul C.; Velasco, Guillaume; Francastel, Claire; Ulveling, Damien; Ciolfi, Andrea; Pizzi, Simone; Tartaglia, Marco; Heide, Solveig; Heron, Delphine; Mignot, Cyril; Keren, Boris; Whalen, Sandra; Afenjar, Alexandra; Bienvenu, Thierry; Campeau, Philippe M.; Rousseau, Justine; Levy, Michael A.; Brick, Lauren; Kozenko, Mariya; Balci, Tugce B.; Siu, Victoria Mok; Stuart, Alan; Kadour, Mike; Masters, Jennifer; Takano, Kyoko; Kleefstra, Tjitske; de Leeuw, Nicole; Field, Michael; Shaw, Marie; Gecz, Jozef; Ainsworth, Peter J.; Lin, Hanxin; Rodenhiser, David I.; Friez, Michael J.; Tedder, Matt; Lee, Jennifer A.; DuPont, Barbara R.; Stevenson, Roger E.; Skinner, Steven A.; Schwartz, Charles E.; Genevieve, David; Sadikovic, Bekim; Grp DI France
Academic Journal
Haines, Bryan; Hughes, James; Corbett, Mark; Shaw, Marie; Innes, Josie; Patel, Leena; Gecz, Jozef; Clayton-Smith, Jill; Thomas, Paul
The Journal of Clinical Endocrinology & Metabolism. May 01, 2015 100(5):E815-E820
Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability
Academic Journal
Whibley, Annabel C.; Plagnol, Vincent; Tarpey, Patrick S.; Abidi, Fatima; Fulliston, Tod; Choma, Maja K.; Boucher, Catherine A.; Shepherd, Lorraine; Willatt, Lionel; Parkin, Georgina; Smith, Raffaella; Futreal, P. Andrew; Shaw, Marie; Boyle, Jackie; Licata, Andrea; Skinner, Cindy; Stevenson, Roger E.; Turner, Gillian; Field, Michael; Hackett, Anna; Schwartz, Charles E.; Gecz, Jozef; Stratton, Michael R.; Raymond, F. Lucy
American Journal of Human Genetics. August 13, 2010, Vol. 87 Issue 2, p173, 16 p.
Academic Journal
Le Fevre, Anna K.; Taylor, Sharelle; Malek, Neva H.; Horn, Denise; Carr, Christopher W.; Abdul-Rahman, Omar A.; OʼDonnell, Sherindan; Burgess, Trent; Shaw, Marie; Gecz, Jozef; Bain, Nicole; Fagan, Kerry; Hunter, Matthew F.
American Journal Of Medical Genetics - A. Dec 01, 2013 161(12):3166-3175
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[AR] Shaw, Marie
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