학술논문
'학술논문'
에서 검색결과 138건 | 목록
30~40
Academic Journal
Kreienkamp, Hans-Juergen; Wagner, Matias; Weigand, Heike; McConkie-Rossell, Allyn; McDonald, Marie; Keren, Boris; Mignot, Cyril; Gauthier, Julie; Soucy, Jean-Francois; Michaud, Jacques L.; Dumas, Meghan; Smith, Rosemarie; Loebel, Ulrike; Hempel, Maja; Kubisch, Christian; Denecke, Jonas; Campeau, Philippe M.; Bain, Jennifer M.; Lessel, Davor
Academic Journal
McDonald, Marie; Thomas, Samantha; Godfrey, Alyssa; Miller, Sarah; Jones, Jane; Wallace, Rachael; Mevavala, Bhaumik; Bear, Natasha; O'Gorman, Tess; Hudson, Abigail; Ong, Jaslyn; Metcalfe, Jessica; O'Sullivan, Michael
Book
Prasun, Pankaj; Young, Sarah; Salomons, Gajja; Werneke, Andrea; Jiang, Yong-hui; Struys, Eduard; Paige, Mikell; Avantaggiati, Maria Laura; McDonald, Marie
JIMD Reports, Volume 19; 2015, p111-115, 5p
Academic Journal
Lessel, Davor; Zeitler, Daniela M.; Reijnders, Margot R. F.; Kazantsev, Andriy; Nia, Fatemeh Hassani; Bartholomaeus, Alexander; Martens, Victoria; Bruckmann, Astrid; Graus, Veronika; McConkie-Rosell, Allyn; McDonald, Marie; Lozic, Bernarda; Tan, Ee-Shien; Gerkes, Erica; Johannsen, Jessika; Denecke, Jonas; Telegrafi, Aida; Zonneveld-Huijssoon, Evelien; Lemmink, Henny H.; Cham, Breana W. M.; Kovacevic, Tanja; Ramsdell, Linda; Foss, Kimberly; Le Duc, Diana; Mitter, Diana; Syrbe, Steffen; Merkenschlager, Andreas; Sinnema, Margje; Panis, Bianca; Lazier, Joanna; Osmond, Matthew; Hartley, Taila; Mortreux, Jeremie; Busa, Tiffany; Missirian, Chantal; Prasun, Pankaj; Luettgen, Sabine; Mannucci, Ilaria; Lessel, Ivana; Schob, Claudia; Kindler, Stefan; Pappas, John; Rabin, Rachel; Willemsen, Marjolein; Gardeitchik, Thatjana; Loehner, Katharina; Rump, Patrick; Dias, Kerith-Rae; Evans, Carey-Anne; Andrews, Peter Ian; Roscioli, Tony; Brunner, Han G.; Chijiwa, Chieko; Lewis, M. E. Suzanne; Abou Jamra, Rami; Dyment, David A.; Boycott, Kym M.; Stegmann, Alexander P. A.; Kubisch, Christian; Tan, Ene-Choo; Mirzaa, Ghayda M.; McWalter, Kirsty; Kleefstra, Tjitske; Pfundt, Rolph; Ignatova, Zoya; Meister, Gunter; Kreienkamp, Hans-Juergen
Academic Journal
Guo, Hui; Zhang, Qiumeng; Dai, Rujia; Yu, Bin; Hoekzema, Kendra; Tan, Jieqiong; Tan, Senwei; Jia, Xiangbin; Chung, Wendy K.; Hernan, Rebecca; Alkuraya, Fowzan S.; Alsulaiman, Ahood; Al-Muhaizea, Mohammad A.; Lesca, Gaetan; Pons, Linda; Labalme, Audrey; Laux, Linda; Bryant, Emily; Brown, Natasha J.; Savva, Elena; Ayres, Samantha; Eratne, Dhamidhu; Peeters, Hilde; Bilan, Frederic; Letienne-Cejudo, Lucile; Gilbert-Dussardier, Brigitte; Ruiz-Arana, Inge-Lore; Merlini, Jenny Meylan; Boizot, Alexia; Bartoloni, Lucia; Santoni, Federico; Karlowicz, Danielle; McDonald, Marie; Wu, Huidan; Hu, Zhengmao; Chen, Guodong; Ou, Jianjun; Brasch-Andersen, Charlotte; Fagerberg, Christina R.; Dreyer, Inken; Tsai, Anne Chun-hui; Slegesky, Valerie; McGee, Rose B.; Daniels, Brina; Sellars, Elizabeth A.; Carpenter, Lori A.; Schaefer, Bradley; Sacoto, Maria J. Guillen; Begtrup, Amber; Schnur, Rhonda E.; Punj, Sumit; Wentzensen, Ingrid M.; Rhodes, Lindsay; Pan, Qian; Bernier, Raphael A.; Chen, Chao; Eichler, Evan E.; Xia, Kun
Academic Journal
Guo, Hui; Zhang, Qiumeng; Dai, Rujia; Yu, Bin; Hoekzema, Kendra; Tan, Jieqiong; Tan, Senwei; Jia, Xiangbin; Chung, Wendy K.; Hernan, Rebecca; Alkuraya, Fowzan S.; Alsulaiman, Ahood; Al-Muhaizea, Mohammad A.; Lesca, Gaetan; Pons, Linda; Labalme, Audrey; Laux, Linda; Bryant, Emily; Brown, Natasha J.; Savva, Elena; Ayres, Samantha; Eratne, Dhamidhu; Peeters, Hilde; Bilan, Frederic; Letienne-Cejudo, Lucile; Gilbert-Dussardier, Brigitte; Ruiz-Arana, Inge-Lore; Merlini, Jenny Meylan; Boizot, Alexia; Bartoloni, Lucia; Santoni, Federico; Karlowicz, Danielle; McDonald, Marie; Wu, Huidan; Hu, Zhengmao; Chen, Guodong; Ou, Jianjun; Brasch-Andersen, Charlotte; Fagerberg, Christina R.; Dreyer, Inken; Tsai, Anne Chun-hui; Slegesky, Valerie; McGee, Rose B.; Daniels, Brina; Sellars, Elizabeth A.; Carpenter, Lori A.; Schaefer, Bradley; Sacoto, Maria J. Guillen; Begtrup, Amber; Schnur, Rhonda E.; Punj, Sumit; Wentzensen, Ingrid M.; Rhodes, Lindsay; Pan, Qian; Bernier, Raphael A.; Chen, Chao; Eichler, Evan E.; Xia, Kun
Academic Journal
Rojnueangnit, Kitiwan; Xie, Jing; Gomes, Alicia; Sharp, Angela; Callens, Tom; Chen, Yunjia; Liu, Ying; Cochran, Meagan; Abbott, Mary-Alice; Atkin, Joan; Babovic-Vuksanovic, Dusica; Barnett, Christopher P.; Crenshaw, Melissa; Bartholomew, Dennis W.; Basel, Lina; Bellus, Gary; Ben-Shachar, Shay; Bialer, Martin G.; Bick, David; Blumberg, Bruce; Cortes, Fanny; David, Karen L.; Destree, Anne; Duat-Rodriguez, Anna; Earl, Dawn; Escobar, Luis; Eswara, Marthanda; Ezquieta, Begona; Frayling, Ian M.; Frydman, Moshe; Gardner, Kathy; Gripp, Karen W.; Hernández-Chico, Concepcion; Heyrman, Kurt; Ibrahim, Jennifer; Janssens, Sandra; Keena, Beth A; Llano-Rivas, Isabel; Leppig, Kathy; McDonald, Marie; Misra, Vinod K.; Mulbury, Jennifer; Narayanan, Vinodh; Orenstein, Naama; Galvin-Parton, Patricia; Pedro, Helio; Pivnick, Eniko K.; Powell, Cynthia M.; Randolph, Linda; Raskin, Salmo; Rosell, Jordi; Rubin, Karol; Seashore, Margretta; Schaaf, Christian P.; Scheuerle, Angela; Schultz, Meredith; Schorry, Elizabeth; Schnur, Rhonda; Siqveland, Elizabeth; Tkachuk, Amanda; Tonsgard, James; Upadhyaya, Meena; Verma, Ishwar C.; Wallace, Stephanie; Williams, Charles; Zackai, Elaine; Zonana, Jonathan; Lazaro, Conxi; Claes, Kathleen; Korf, Bruce; Martin, Yolanda; Legius, Eric; Messiaen, Ludwine
Human Mutation. Nov 01, 2015 36(11):1052-1063
Academic Journal
Castilla-Vallmanya, Laura; Selmer, Kaja K.; Dimartino, Clemantine; Rabionet, Raquel; Blanco-Sanchez, Bernardo; Yang, Sandra; Reijnders, Margot R. F.; van Essen, Antonie J.; Oufadem, Myriam; Vigeland, Magnus D.; Stadheim, Barbro; Houge, Gunnar; Cox, Helen; Kingston, Helen; Clayton-Smith, Jill; Innis, Jeffrey W.; Iascone, Maria; Cereda, Anna; Gabbiadini, Sara; Chung, Wendy K.; Sanders, Victoria; Charrow, Joel; Bryant, Emily; Millichap, John; Vitobello, Antonio; Thauvin, Christel; Mau-Them, Frederic Tran; Faivre, Laurence; Lesca, Gaetan; Labalme, Audrey; Rougeot, Christelle; Chatron, Nicolas; Sanlaville, Damien; Christensen, Katherine M.; Kirby, Amelia; Lewandowski, Raymond; Gannaway, Rachel; Aly, Maha; Lehman, Anna; Clarke, Lorne; Graul-Neumann, Luitgard; Zweier, Christiane; Lessel, Davor; Lozic, Bernarda; Aukrust, Ingvild; Peretz, Ryan; Stratton, Robert; Smol, Thomas; Dieux-Coeslier, Anne; Meira, Joanna; Wohler, Elizabeth; Sobreira, Nara; Beaver, Erin M.; Heeley, Jennifer; Briere, Lauren C.; High, Frances A.; Sweetser, David A.; Walker, Melissa A.; Keegan, Catherine E.; Jayakar, Parul; Shinawi, Marwan; Kerstjens-Frederikse, Wilhelmina S.; Earl, Dawn L.; Siu, Victoria M.; Reesor, Emma; Yao, Tony; Hegele, Robert A.; Vaske, Olena M.; Rego, Shannon; Shapiro, Kevin A.; Wong, Brian; Gambello, Michael J.; McDonald, Marie; Karlowicz, Danielle; Colombo, Roberto; Serretti, Alessandro; Pais, Lynn; O'Donnell-Luria, Anne; Wray, Alison; Sadedin, Simon; Chong, Belinda; Tan, Tiong Y.; Christodoulou, John; White, Susan M.; Slavotinek, Anne; Barbouth, Deborah; Swols, Dayna Morel; Parisot, Melanie; Bole-Feysot, Christine; Nitschke, Patrick; Pingault, Veronique; Munnich, Arnold; Cho, Megan T.; Cormier-Daire, Valerie; Balcells, Susanna; Lyonnet, Stanislas; Grinberg, Daniel; Amiel, Jeanne; Urreizti, Roser; Gordon, Christopher T.; Undiagnosed Dis Network; Care4Rare Canada Consortium
Academic Journal
Accogli, Andrea; Calabretta, Sara; St-Onge, Judith; Boudrahem-Addour, Nassima; Dionne-Laporte, Alexandre; Joset, Pascal; Azzarello-Burri, Silvia; Rauch, Anita; Krier, Joel; Fieg, Elizabeth; Pallais, Juan C.; McConkie-Rosell, Allyn; McDonald, Marie; Freedman, Sharon F.; Riviere, Jean-Baptiste; Lafond-Lapalme, Joel; Simpson, Brittany N.; Hopkin, Robert J.; Trimouille, Aurelien; Van-Gils, Julien; Begtrup, Amber; McWalter, Kirsty; Delphine, Heron; Keren, Boris; Genevieve, David; Argilli, Emanuela; Sherr, Elliott H.; Severino, Mariasavina; Rouleau, Guy A.; Yam, Patricia T.; Charron, Frederic; Srour, Myriam; Undiagnosed Dis Network
Periodical
Beaman, M. Makenzie; Guidugli, Lucia; Hammer, Monia; Barrows, Chelsea; Gregor, Anne; McDonald, Marie; Jensen, Courtney; Lee, Sangmoon; Zaki, Maha; Masri, Amira; Gleeson, Joseph; Cohen, Jennifer L.
Genetics in Medicine; March 2022, Vol. 24 Issue: 3, Number 3 Supplement 1 pS53-S54, 2p
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[AR] McDonald, Marie
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