학술논문
'학술논문'
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1~10
Academic Journal
Royer-Bertrand, Beryl; Jequier Gygax, Marine; Cisarova, Katarina; Rosenfeld, Jill A.; Bassetti, Jennifer A.; Moldovan, Oana; O'Heir, Emily; Burrage, Lindsay C.; Allen, Jake; Emrick, Lisa T.; Eastman, Emma; Kumps, Camille; Abbas, Safdar; Van Winckel, Geraldine; Chabane, Nadia; Zackai, Elaine H.; Lebon, Sebastien; Keena, Beth; Bhoj, Elizabeth J.; Umair, Muhammad
Academic Journal
van Woerden, Geeske M.; Senden, Richelle; de Konink, Charlotte; Trezza, Rossella A.; Baban, Anwar; Bassetti, Jennifer A.; van Bever, Yolande; Bird, Lynne M.; van Bon, Bregje W.; Brooks, Alice S.; Guan, Qiaoning; Klee, Eric W.; Marcelis, Carlo; Rosado, Joel M.; Schimmenti, Lisa A.; Shikany, Amy R.; Terhal, Paulien A.; Nicole Weaver, Kathryn; Wessels, Marja W.; van Wieringen, Hester
Human Mutation; Oct2022, Vol. 43 Issue 10, p1377-1395, 19p
Periodical
Morsy, Heba; Benkirane, Mehdi; Cali, Elisa; Rocca, Clarissa; Zhelcheska, Kristina; Cipriani, Valentina; Galanaki, Evangelia; Maroofian, Reza; Efthymiou, Stephanie; Murphy, David; O’Driscoll, Mary; Suri, Mohnish; Banka, Siddharth; Clayton-Smith, Jill; Wright, Thomas; Redman, Melody; Bassetti, Jennifer A.; Nizon, Mathilde; Cogne, Benjamin; Jamra, Rami Abu; Bartolomaeus, Tobias; Heruth, Marion; Krey, Ilona; Gburek-Augustat, Janina; Wieczorek, Dagmar; Gattermann, Felix; Mcentagart, Meriel; Goldenberg, Alice; Guyant-Marechal, Lucie; Garcia-Moreno, Hector; Giunti, Paola; Chabrol, Brigitte; Bacrot, Severine; Buissonnière, Roger; Magry, Virginie; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Melegh, Béla; Szabó, András; Sümegi, Katalin; Cossée, Mireille; Ziff, Monica; Butterfield, Russell; Hunt, David; Bird-Lieberman, Georgina; Hanna, Michael; Koenig, Michel; Stankewich, Michael; Vandrovcova, Jana; Houlden, Henry; Ambrose, J.C.; Arumugam, P.; Baple, E.L.; Bleda, M.; Boardman-Pretty, F.; Boissiere, J.M.; Boustred, C.R.; Brittain, H.; Caulfield, M.J.; Chan, G.C.; Craig, C.E.H.; Daugherty, L.C.; de Burca, A.; Devereau, A.; Elgar, G.; Foulger, R.E.; Fowler, T.; Furió-Tarí, P.; Hackett, J.M.; Halai, D.; Hamblin, A.; Henderson, S.; Holman, J.E.; Hubbard, T.J.P.; Ibáñez, K.; Jackson, R.; Jones, L.J.; Kasperaviciute, D.; Kayikci, M.; Lahnstein, L.; Lawson, K.; Leigh, S.E.A.; Leong, I.U.S.; Lopez, F.J.; Maleady-Crowe, F.; Mason, J.; McDonagh, E.M.; Moutsianas, L.; Mueller, M.; Murugaesu, N.; Need, A.C.; Odhams, C.A.; Patch, C.; Perez-Gil, D.; Polychronopoulos, D.; Pullinger, J.; Rahim, T.; Rendon, A.; Riesgo-Ferreiro, P.; Rogers, T.; Ryten, M.; Savage, K.; Sawant, K.; Scott, R.H.; Siddiq, A.; Sieghart, A.; Smedley, D.; Smith, K.R.; Sosinsky, A.; Spooner, W.; Stevens, H.E.; Stuckey, A.; Sultana, R.; Thomas, E.R.A.; Thompson, S.R.; Tregidgo, C.; Tucci, A.; Walsh, E.; Watters, S.A.; Welland, M.J.; Williams, E.; Witkowska, K.; Wood, S.M.; Zarowiecki, M.
Genetics in Medicine; January 2023, Vol. 25 Issue: 1 p76-89, 14p
Academic Journal
Morsy, Heba; Benkirane, Mehdi; Cali, Elisa; Rocca, Clarissa; Zhelcheska, Kristina; Cipriani, Valentina; Galanaki, Evangelia; Maroofian, Reza; Efthymiou, Stephanie; Murphy, David; O'Driscoll, Mary; Suri, Mohnish; Banka, Siddharth; Clayton-Smith, Jill; Wright, Thomas; Redman, Melody; Bassetti, Jennifer A.; Nizon, Mathilde; Cogne, Benjamin; Abu Jamra, Rami; Bartolomaeus, Tobias; Heruth, Marion; Krey, Ilona; Gburek-Augustat, Janina; Wieczorek, Dagmar; Gattermann, Felix; Mcentagart, Meriel; Goldenberg, Alice; Guyant-Marechal, Lucie; Garcia-Moreno, Hector; Giunti, Paola; Chabrol, Brigitte; Bacrot, Severine; Buissonniere, Roger; Magry, Virginie; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Melegh, Bela; Szabo, Andras; Sumegi, Katalin; Cossee, Mireille; Ziff, Monica; Butterfield, Russell; Hunt, David; Bird-Lieberman, Georgina; Hanna, Michael; Koenig, Michel; Stankewich, Michael; Vandrovcova, Jana; Houlden, Henry; Genomics England Res Consortium
Academic Journal
Groth, Daniel J.; Lakkaraja, Madhavi M.; Ferreira, Johanna O.; Feuille, Elizabeth J.; Bassetti, Jennifer A.; Kaicker, Shipra M.
Academic Journal
Sheppard, Sarah E.; Campbell, Ian M.; Harr, Margaret H.; Gold, Nina; Li, Dong; Bjornsson, Hans T.; Cohen, Julie S.; Fahrner, Jill A.; Fatemi, Ali; Harris, Jacqueline R.; Nowak, Catherine; Stevens, Cathy A.; Grand, Katheryn; Au, Margaret; Graham, John M., Jr.; Sanchez-Lara, Pedro A.; Del Campo, Miguel; Jones, Marilyn C.; Abdul-Rahman, Omar; Alkuraya, Fowzan S.; Bassetti, Jennifer A.; Bergstrom, Katherine; Bhoj, Elizabeth; Dugan, Sarah; Kaplan, Julie D.; Derar, Nada; Gripp, Karen W.; Hauser, Natalie; Innes, A. Micheil; Keena, Beth; Kodra, Neslida; Miller, Rebecca; Nelson, Beverly; Nowaczyk, Malgorzata J.; Rahbeeni, Zuhair; Ben-Shachar, Shay; Shieh, Joseph T.; Slavotinek, Anne; Sobering, Andrew K.; Abbott, Mary-Alice; Allain, Dawn C.; Amlie-Wolf, Louise; Au, Ping Yee Billie; Bedoukian, Emma; Beek, Geoffrey; Barry, James; Berg, Janet; Bernstein, Jonathan A.; Cytrynbaum, Cheryl; Chung, Brian Hon-Yin; Donoghue, Sarah; Dorrani, Naghmeh; Eaton, Alison; Flores-Daboub, Josue A.; Dubbs, Holly; Felix, Carolyn A.; Fong, Chin-To; Fung, Jasmine Lee Fong; Gangaram, Balram; Goldstein, Amy; Greenberg, Rotem; Ha, Thoa K.; Hersh, Joseph; Izumi, Kosuke; Kallish, Staci; Kravets, Elijah; Kwok, Pui-Yan; Jobling, Rebekah K.; Johnson, Amy E. Knight; Kushner, Jessica; Lee, Bo Hoon; Levin, Brooke; Lindstrom, Kristin; Manickam, Kandamurugu; Mardach, Rebecca; McCormick, Elizabeth; McLeod, D. Ross; Mentch, Frank D.; Minks, Kelly; Muraresku, Colleen; Nelson, Stanley F.; Porazzi, Patrizia; Pichurin, Pavel N.; Powell-Hamilton, Nina N.; Powis, Zoe; Ritter, Alyssa; Rogers, Caleb; Rohena, Luis; Ronspies, Carey; Schroeder, Audrey; Stark, Zornitza; Starr, Lois; Stoler, Joan; Suwannarat, Pim; Velinov, Milen; Weksberg, Rosanna; Wilnai, Yael; Zadeh, Neda; Zand, Dina J.; Falk, Marni J.; Hakonarson, Hakon; Zackai, Elaine H.; Quintero-Rivera, Fabiola
Academic Journal
Zhang, Li Xin; Lemire, Gabrielle; Gonzaga-Jauregui, Claudia; Molidperee, Sirinart; Galaz-Montoya, Carolina; Liu, David S.; Verloes, Alain; Shillington, Amelle G.; Izumi, Kosuke; Ritter, Alyssa L.; Keena, Beth; Zackai, Elaine; Li, Dong; Bhoj, Elizabeth; Tarpinian, Jennifer M.; Bedoukian, Emma; Kukolich, Mary K.; Innes, A. Micheil; Ediae, Grace U.; Sawyer, Sarah L.; Nair, Karippoth Mohandas; Soumya, Para Chottil; Subbaraman, Kinattinkara R.; Probst, Frank J.; Bassetti, Jennifer A.; Sutton, Reid V.; Gibbs, Richard A.; Brown, Chester; Boone, Philip M.; Holm, Ingrid A.; Tartaglia, Marco; Ferrero, Giovanni Battista; Niceta, Marcello; Dentici, Maria Lisa; Radio, Francesca Clementina; Keren, Boris; Wells, Constance F.; Coubes, Christine; Laquerrière, Annie; Aziza, Jacqueline; Dubucs, Charlotte; Nampoothiri, Sheela; Mowat, David; Patel, Millan S.; Bracho, Ana; Cammarata-Scalisi, Francisco; Gezdirici, Alper; Fernandez-Jaen, Alberto; Hauser, Natalie; Zarate, Yuri A.; Bosanko, Katherine A.; Dieterich, Klaus; Carey, John C.; Chong, Jessica X.; Nickerson, Deborah A.; Bamshad, Michael J.; Lee, Brendan H.; Yang, Xiang-Jiao; Lupski, James R.; Campeau, Philippe M.
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 22(8):1338-1347
Academic Journal
Cif, Laura; Demailly, Diane; Lin, Jean-Pierre; Barwick, Katy E.; Sa, Mario; Abela, Lucia; Malhotra, Sony; Chong, Wui K.; Steel, Dora; Sanchis-Juan, Alba; Ngoh, Adeline; Trump, Natalie; Meyer, Esther; Vasques, Xavier; Rankin, Julia; Allain, Meredith W.; Applegate, Carolyn D.; Isfahani, Sanaz Attaripour; Baleine, Julien; Balint, Bettina; Bassetti, Jennifer A.; Baple, Emma L.; Bhatia, Kailash P.; Blanchet, Catherine; Burglen, Lydie; Cambonie, Gilles; Seng, Emilie Chan; Bastaraud, Sandra Chantot; Cyprien, Fabienne; Coubes, Christine; D'Hardemare, Vincent; Doja, Asif; Dorison, Nathalie; Doummar, Diane; Dy-Hollins, Marisela E.; Farrelly, Ellyn; Fitzpatrick, David R.; Fearon, Conor; Fieg, Elizabeth L.; Fogel, Brent L.; Forman, Eva B.; Fox, Rachel G.; Gahl, William A.; Galosi, Serena; Gonzalez, Victoria; Graves, Tracey D.; Gregory, Allison; Hallett, Mark; Hasegawa, Harutomo; Hayflick, Susan J.; Hamosh, Ada; Hully, Marie; Jansen, Sandra; Jeong, Suh Young; Krier, Joel B.; Krystal, Sidney; Kumar, Kishore R.; Laurencin, Chloe; Lee, Hane; Lesca, Gaetan; Francois, Laurence Lion; Lynch, Timothy; Mahant, Neil; Martinez-Agosto, Julian A.; Milesi, Christophe; Mills, Kelly A.; Mondain, Michel; Morales-Briceno, Hugo; Ostergaard, John R.; Pal, Swasti; Pallais, Juan C.; Pavillard, Frederique; Perrigault, Pierre-Francois; Petersen, Andrea K.; Polo, Gustavo; Poulen, Gaetan; Rinne, Tuula; Roujeau, Thomas; Rogers, Caleb; Roubertie, Agathe; Sahagian, Michelle; Schaefer, Elise; Selim, Laila; Selway, Richard; Sharma, Nutan; Signer, Rebecca; Soldatos, Ariane G.; Stevenson, David A.; Stewart, Fiona; Tchan, Michel; Verma, Ishwar C.; de Vries, Bert B. A.; Wilson, Jenny L.; Wong, Derek A.; Zaitoun, Raghda; Zhen, Dolly; Znaczko, Anna; Dale, Russell C.; de Gusmao, Claudio M.; Friedman, Jennifer; Fung, Victor S. C.; King, Mary D.; Mohammad, Shekeeb S.; Rohena, Luis; Waugh, Jeff L.; Toro, Camilo; Raymond, F. Lucy; Topf, Maya; Coubes, Philippe; Gorman, Kathleen M.; Kurian, Manju A.; Deciphering Dev Disorders Study; Genomics England Res Consortium; NIHR BioResource; Undiagnosed Dis Network
Academic Journal
Molecular Syndromology; Jan2017, Vol. 8 Issue 1, p4-23, 20p, 3 Color Photographs, 1 Chart, 1 Graph
Academic Journal
Sheppard, Sarah E.; Campbell, Ian M.; Harr, Margaret H.; Gold, Nina; Li, Dong; Bjornsson, Hans T.; Cohen, Julie S.; Fahrner, Jill A.; Fatemi, Ali; Harris, Jacqueline R.; Nowak, Catherine; Stevens, Cathy A.; Grand, Katheryn; Au, Margaret; Graham, John M., Jr.; Sanchez-Lara, Pedro A.; Del Campo, Miguel; Jones, Marilyn C.; Abdul-Rahman, Omar; Alkuraya, Fowzan S.; Bassetti, Jennifer A.; Bergstrom, Katherine; Bhoj, Elizabeth; Dugan, Sarah; Kaplan, Julie D.; Derar, Nada; Gripp, Karen W.; Hauser, Natalie; Micheil Innes, A.; Keena, Beth; Kodra, Neslida; Miller, Rebecca; Nelson, Beverly; Nowaczyk, Malgorzata J.; Rahbeeni, Zuhair; Ben-Shachar, Shay; Shieh, Joseph T.; Slavotinek, Anne; Sobering, Andrew K.; Abbott, Mary-Alice; Allain, Dawn C.; Amlie-Wolf, Louise; Au, Ping Yee Billie; Bedoukian, Emma; Beek, Geoffrey; Barry, James; Berg, Janet; Bernstein, Jonathan A.; Cytrynbaum, Cheryl; Chung, Brian Hon-Yin; Donoghue, Sarah; Dorrani, Naghmeh; Eaton, Alison; Flores-Daboub, Josue A.; Dubbs, Holly; Felix, Carolyn A.; Fong, Chin-To; Fung, Jasmine Lee Fong; Gangaram, Balram; Goldstein, Amy; Greenberg, Rotem; Ha, Thoa K.; Hersh, Joseph; Izumi, Kosuke; Kallish, Staci; Kravets, Elijah; Kwok, Pui-Yan; Jobling, Rebekah K.; Johnson, Amy E. Knight; Kushner, Jessica; Lee, Bo Hoon; Levin, Brooke; Lindstrom, Kristin; Manickam, Kandamurugu; Mardach, Rebecca; McCormick, Elizabeth; Ross McLeod, D.; Mentch, Frank D.; Minks, Kelly; Muraresku, Colleen; Nelson, Stanley F.; Porazzi, Patrizia; Pichurin, Pavel N.; Powell-Hamilton, Nina N.; Powis, Zoe; Ritter, Alyssa; Rogers, Caleb; Rohena, Luis; Ronspies, Carey; Schroeder, Audrey; Stark, Zornitza; Starr, Lois; Stoler, Joan; Suwannarat, Pim; Velinov, Milen; Weksberg, Rosanna; Wilnai, Yael; Zadeh, Neda; Zand, Dina J.; Falk, Marni J.; Hakonarson, Hakon; Zackai, Elaine H.; Quintero-Rivera, Fabiola
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[AR] Bassetti, Jennifer A.
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