학술논문
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'학술논문'
에서 검색결과 88건 | 목록
1~20
Academic Journal
Schmid, Cosima M.; Gregor, Anne; Ruiz, Anna; Manso Bazús, Carmen; Herman, Isabella; Ammouri, Farah; Kotzaeridou, Urania; McNiven, Vanda; Dupuis, Lucie; Steindl, Katharina; Begemann, Anaïs; Rauch, Anita; Suter, Aude-Annick; Isidor, Bertrand; Mercier, Sandra; Nizon, Mathilde; Cogné, Benjamin; Deb, Wallid; Besnard, Thomas; Haack, Tobias B.; Falb, Ruth J.; Müller, Amelie J.; Linden, Tobias; Haldeman-Englert, Chad R.; Ockeloen, Charlotte W.; Mattioli, Francesca; Reymond, Alexandre; Ibrahim, Nazia; Naz, Shagufta; Lacaze, Elodie; Bassetti, Jennifer A.; Hoefele, Julia; Brunet, Theresa; Riedhammer, Korbinian M.; Elloumi, Houda Z.; Person, Richard; Zou, Fanggeng; Kahle, Juliette J.; Cremer, Kirsten; Schmidt, Axel; Delrue, Marie-Ange; Almeida, Pedro M.; Ramos, Fabiana; Srivastava, Siddharth; Quinlan, Aisling; Robertson, Stephen; Manka, Eva; Kuechler, Alma; Spranger, Stephanie; Nowaczyk, Malgorzata J. M.; Elshafie, Reem M.; Alsharhan, Hind; Hillman, Paul R.; Dunnington, Leslie A.; Braakman, Hilde M. H.; McKee, Shane; Moresco, Angelica; Ignat, Andrea-Diana; Newbury-Ecob, Ruth; Banneau, Guillaume; Patat, Olivier; Kuerbitz, Jeffrey; Rzucidlo, Susan; Sell, Susan S.; Gordon, Patricia; Schuhmann, Sarah; Reis, André; Halleb, Yosra; Stoeva, Radka; Keren, Boris; Al Masseri, Zainab; Tümer, Zeynep; Hammer-Hansen, Sophia; Krüger Sølyst, Sofus; Steigerwald, Connolly G.; Abreu, Nicolas J.; Faust, Helene; Müller-Nedebock, Amica; Tran Mau-Them, Frédéric; Sticht, Heinrich; Zweier, Christiane
European Journal of Human Genetics. :1-7
Academic Journal
Academic Journal
Dong Li; Qin Wang; Gong, Naihua N.; Kurolap, Alina; Feldman, Hagit Baris; Boy, Nikolas; Brugger, Melanie; Grand, Katheryn; McWalter, Kirsty; Sacoto, Maria J. Guillen; Wakeling, Emma; Hurst, Jane; March, Michael E.; Bhoj, Elizabeth J.; Nowaczyk, Małgorzata J. M.; Gonzaga-Jauregui, Claudia; Mathew, Mariam; Dava-Wala, Ashita; Siemon, Amy; Bartholomew, Dennis
Academic Journal
Quintero-Rivera, Fabiola; Eno, Celeste C.; Sutanto, Christine; Jones, Kelly L.; Nowaczyk, Małgorzata J. M.; Wong, Derek; Earl, Dawn; Mirzaa, Ghayda; Beck, Anita; Martinez-Agosto, Julian A.
Academic Journal
Nikkel, Sarah M.; Dauber, Andrew; De Munnik, Sonja; Connolly, Meghan; Hood, Rebecca L.; Caluseriu, Oana; Hurst, Jane; Kini, Usha; Nowaczyk, Malgorzata J. M.; Afenjar, Alexandra; Albrecht, Beate; Allanson, Judith E.; Balestri, Paolo; Ben-Omran, Tawfeg; Brancati, Francesco; Cordeiro, Isabel; Santos da Cunha, Bruna; Delaney, Louisa A.; Destrée, Anne; Fitzpatrick, David
Academic Journal
Miller, Garfield L.; Somani, Sohel; Nowaczyk, Malgorzata J. M.; Feigenbaum, Annette; Davidson, Ronald G.; Costa, Teresa; Levin, Alex V.
Academic Journal
Krantz, Ian D.; McCallum, Jennifer; DeScipio, Cheryl; Kaur, Maninder; Gillis, Lynette A.; Yaeger, Dinah; Jukofsky, Lori; Wasserman, Nora; Bottani, Armand; Morris, Colleen A.; Nowaczyk, Malgorzata J. M.; Toriello, Helga; Bamshad, Michael J.; Carey, John C.; Rappaport, Eric; Kawauchi, Shimako; Lander, Arthur D.; Calof, Anne L.; Hui-Hua Li; Devoto, Marcella
Academic Journal
David A. Dyment; Anne O'Donnell‐Luria; Pankaj B. Agrawal; Zeynep Coban Akdemir; Kyrieckos A. Aleck; Danny Antaki; Hind Al Sharhan; Ping‐Yee B. Au; Hatip Aydin; Alan H. Beggs; Kaya Bilguvar; Eric Boerwinkle; Harrison Brand; Catherine A. Brownstein; Steve Buyske; Bernard Chodirker; Jungmin Choi; Albert E. Chudley; Carol L. Clericuzio; Gerald F. Cox; Cynthia Curry; Elke de Boer; Bert B. A. de Vries; Kathryn Dunn; Cullen M. Dutmer; Eleina M. England; Jill A. Fahrner; Bilgen B. Geckinli; Casie A. Genetti; Alper Gezdirici; William T. Gibson; Joseph G. Gleeson; Cheryl R. Greenberg; April Hall; Ada Hamosh; Taila Hartley; Shalini N. Jhangiani; Ender Karaca; Kristin Kernohan; Julie L. Lauzon; M. E. Suzanne Lewis; R. Brian Lowry; Francesc López‐Giráldez; Tara C. Matise; Jennifer McEvoy‐Venneri; Brenda McInnes; Aziz Mhanni; Sixto Garcia Minaur; Jukka Moilanen; An Nguyen; Malgorzata J. M. Nowaczyk; Jennifer E. Posey; Katrin Õunap; Davut Pehlivan; Sander Pajusalu; Lynette S. Penney; Timothy Poterba; Paolo Prontera; Maria Juliana Rodovalho Doriqui; Sarah L. Sawyer; Nara Sobreira; Valentina Stanley; Deniz Torun; David Wargowski; P. Dane Witmer; Isaac Wong; Jinchuan Xing; Maha S. Zaki; Yeting Zhang; Kym M. Boycott; Michael J. Bamshad; Deborah A. Nickerson; Elizabeth E. Blue; A. Micheil Innes
American Journal of Medical Genetics Part A. 185:119-133
Academic Journal
Jobling, Rebekah; Stavropoulos, Dimitri James; Marshall, Christian R.; Cytrynbaum, Cheryl; Axford, Michelle M.; Londero, Vanessa; Moalem, Sharon; Orr, Jennifer; Rossignol, Francis; Lopes, Fatima Daniela; Gauthier, Julie; Alos, Nathalie; Rupps, Rosemarie; McKinnon, Margaret; Adam, Shelin; Nowaczyk, Malgorzata J. M.; Walker, Susan; Scherer, Stephen W.; Nassif, Christina; Hamdan, Fadi F.
Journal of Medical Genetics; May2018, Vol. 55 Issue 5, p316-321, 6p
Academic Journal
Rots, Dmitrijs; Chater-Diehl, Eric; Dingemans, Alexander J. M.; Goodman, Sarah J.; Siu, Michelle T.; Cytrynbaum, Cheryl; Choufani, Sanaa; Hoang, Ny; Walker, Susan; Awamleh, Zain; Charkow, Joshua; Meyn, Stephen; Pfundt, Rolph; Rinne, Tuula; Gardeitchik, Thatjana; de Vries, Bert B. A.; Deden, A. Chantal; Leenders, Erika; Kwint, Michael; Stumpel, Constance T. R. M.; Stevens, Servi J. C.; Vermeulen, Jeroen R.; van Harssel, Jeske V. T.; Bosch, Danielle G. M.; van Gassen, Koen L., I; van Binsbergen, Ellen; de Geus, Christa M.; Brackel, Hein; Hempel, Maja; Lessel, Davor; Denecke, Jonas; Slavotinek, Anne; Strober, Jonathan; Crunk, Amy; Folk, Leandra; Wentzensen, Ingrid M.; Yang, Hui; Zou, Fanggeng; Millan, Francisca; Person, Richard; Xie, Yili; Liu, Shuxi; Ousager, Lilian B.; Larsen, Martin; Schultz-Rogers, Laura; Morava, Eva; Klee, Eric W.; Berry, Ian R.; Campbell, Jennifer; Lindstrom, Kristin; Pruniski, Brianna; Neumeyer, Ann M.; Radley, Jessica A.; Phornphutkul, Chanika; Schmidt, Berkley; Wilson, William G.; Ounap, Katrin; Reinson, Karit; Pajusalu, Sander; van Haeringen, Arie; Ruivenkamp, Claudia; Cuperus, Roos; Santos-Simarro, Fernando; Palomares-Bralo, Maria; Pacio-Miguez, Marta; Ritter, Alyssa; Bhoj, Elizabeth; Tonne, Elin; Tveten, Kristian; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Rowe, Leah; Bunn, Jason; Saenz, Margarita; Platzer, Konrad; Mertens, Mareike; Caluseriu, Oana; Nowaczyk, Malgorzata J. M.; Cohn, Ronald D.; Kannu, Peter; Alkhunaizi, Ebba; Chitayat, David; Scherer, Stephen W.; Brunner, Han G.; Vissers, Lisenka E. L. M.; Kleefstra, Tjitske; Koolen, David A.; Weksberg, Rosanna
Academic Journal
Nowaczyk, Małgorzata J. M.; Huang, Lijia; Tarnopolsky, Mark; Schwartzentruber, Jeremy; Majewski, Jacek; Bulman, Dennis E.; Hartley, Taila; Boycott, Kym M.
American Journal Of Medical Genetics - A. Jan 01, 2017 173(1):126-134
Academic Journal
Clinical Dysmorphology; Jul2016, Vol. 25 Issue 3, p128-132, 5p
Academic Journal
Pizzo, Lucilla; Jensen, Matthew; Polyak, Andrew; Rosenfeld, Jill A.; Mannik, Katrin; Krishnan, Arjun; McCready, Elizabeth; Pichon, Olivier; Le Caignec, Cedric; Van Dijck, Anke; Pope, Kate; Voorhoeve, Els; Yoon, Jieun; Stankiewicz, Paweł; Cheung, Sau Wai; Pazuchanics, Damian; Huber, Emily; Kumar, Vijay; Kember, Rachel L.; Mari, Francesca; Curró, Aurora; Castiglia, Lucia; Galesi, Ornella; Avola, Emanuela; Mattina, Teresa; Fichera, Marco; Mandarà, Luana; Vincent, Marie; Nizon, Mathilde; Mercier, Sandra; Bénéteau, Claire; Blesson, Sophie; Martin-Coignard, Dominique; Mosca-Boidron, Anne-Laure; Caberg, Jean-Hubert; Bucan, Maja; Zeesman, Susan; Nowaczyk, Małgorzata J. M.; Lefebvre, Mathilde; Faivre, Laurence; Callier, Patrick; Skinner, Cindy; Keren, Boris; Perrine, Charles; Prontera, Paolo; Marle, Nathalie; Renieri, Alessandra; Reymond, Alexandre; Kooy, R. Frank; Isidor, Bertrand; Schwartz, Charles; Romano, Corrado; Sistermans, Erik; Amor, David J.; Andrieux, Joris; Girirajan, Santhosh
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(4):816-825
Academic Journal
Biesecker, Leslie G.; Adam, Margaret P.; Alkuraya, Fowzan S.; Amemiya, Anne R.; Bamshad, Michael J.; Beck, Anita E.; Bennett, James T.; Bird, Lynne M.; Carey, John C.; Chung, Brian; Clark, Robin D.; Cox, Timothy C.; Curry, Cynthia; Dinulos, Mary Beth Palko; Dobyns, William B.; Giampietro, Philip F.; Girisha, Katta M.; Glass, Ian A.; Graham, John M., Jr.; Gripp, Karen W.; Haldeman-Englert, Chad R.; Hall, Bryan D.; Innes, A. Micheil; Kalish, Jennifer M.; Keppler-Noreuil, Kim M.; Kosaki, Kenjiro; Kozel, Beth A.; Mirzaa, Ghayda M.; Mulvihill, John J.; Nowaczyk, Malgorzata J. M.; Pagon, Roberta A.; Retterer, Kyle; Rope, Alan F.; Sanchez-Lara, Pedro A.; Seaver, Laurie H.; Shieh, Joseph T.; Slavotinek, Anne M.; Sobering, Andrew K.; Stevens, Cathy A.; Stevenson, David A.; Tan, Tiong Yang; Tan, Wen-Hann; Tsai, Anne C.; Weaver, David D.; Williams, Marc S.; Zackai, Elaine; Zarate, Yuri A.
Academic Journal
Mi, Jingyi; Parthasarathy, Padmini; Halliday, Benjamin J.; Morgan, Tim; Dean, John; Nowaczyk, Malgorzata J. M.; Markie, David; Robertson, Stephen P.; Wade, Emma M.
Academic Journal
Pediatric & Developmental Pathology; Jan/Feb2014, Vol. 17 Issue 1, p59-63, 5p
Academic Journal
Pediatric & Developmental Pathology; Mar/Apr2013, Vol. 16 Issue 2, p97-101, 5p
Academic Journal
Koczkowska, Magdalena; Callens, Tom; Chen, Yunjia; Gomes, Alicia; Hicks, Alesha D.; Sharp, Angela; Johns, Eric; Uhas, Kim Armfield; Armstrong, Linlea; Bosanko, Katherine Armstrong; Babovic-Vuksanovic, Dusica; Baker, Laura; Basel, Donald G.; Bengala, Mario; Bennett, James T.; Chambers, Chelsea; Clarkson, Lola K.; Clementi, Maurizio; Cortes, Fanny M.; Cunningham, Mitch; D'Agostino, M. Daniela; Delatycki, Martin B.; Digilio, Maria C.; Dosa, Laura; Esposito, Silvia; Fox, Stephanie; Freckmann, Mary-Louise; Fauth, Christine; Giugliano, Teresa; Giustini, Sandra; Goetsch, Allison; Goldberg, Yael; Greenwood, Robert S.; Griffis, Cristin; Gripp, Karen W.; Gupta, Punita; Haan, Eric; Hachen, Rachel K.; Haygarth, Tamara L.; Hernandez-Chico, Concepcion; Hodge, Katelyn; Hopkin, Robert J.; Hudgins, Louanne; Janssens, Sandra; Keller, Kory; Kelly-Mancuso, Geraldine; Kochhar, Aaina; Korf, Bruce R.; Lewis, Andrea M.; Liebelt, Jan; Lichty, Angie; Listernick, Robert H.; Lyons, Michael J.; Maystadt, Isabelle; Ojeda, Mayra Martinez; McDougall, Carey; McGregor, Lesley K.; Melis, Daniela; Mendelsohn, Nancy; Nowaczyk, Malgorzata J. M.; Ortenberg, June; Panzer, Karin; Pappas, John G.; Pierpont, Mary Ella; Piluso, Giulio; Pinna, Valentina; Pivnick, Eniko K.; Pond, Dinel A.; Powell, Cynthia M.; Rogers, Caleb; Shahar, Noa Ruhrman; Rutledge, S. Lane; Saletti, Veronica; Sandaradura, Sarah A.; Santoro, Claudia; Schatz, Ulrich A.; Schreiber, Allison; Scott, Daryl A.; Sellars, Elizabeth A.; Sheffer, Ruth; Siqveland, Elizabeth; Slopis, John M.; Smith, Rosemarie; Spalice, Alberto; Stockton, David W.; Streff, Haley; Theos, Amy; Tomlinson, Gail E.; Tran, Grace; Trapane, Pamela L.; Trevisson, Eva; Ullrich, Nicole J.; Van den Ende, Jenneke; Vergano, Samantha A. Schrier; Wallace, Stephanie E.; Wangler, Michael F.; Weaver, David D.; Yohay, Kaleb H.; Zackai, Elaine; Zonana, Jonathan; Zurcher, Vickie; Claes, Kathleen B. M.; Eoli, Marica; Martin, Yolanda; Wimmer, Katharina; De Luca, Alessandro; Legius, Eric; Messiaen, Ludwine M.
Academic Journal
Prenatal Diagnosis. Jul 01, 2007 27(7):638-640
Academic Journal
Waye, John S.; Krakowiak, Patrycja A.; Wassif, Christopher A.; Sterner, Allison L.; Eng, Barry; Nakamura, Lisa M.; Nowaczyk, Małgorzata J. M.; Porter, Forbes D.
Human Mutation. Jul 01, 2005 26(1):1-4
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제한된 항목
[AR] Nowaczyk, Małgorzata J. M.
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