학술논문
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'학술논문'
에서 검색결과 227건 | 목록
1~20
Academic Journal
Bakshi, Madhura; Wilson, Meredith; Berman, Yemina; Dickson, Rebecca; Fransen, Erik; Helsmoortel, Céline; Van den Ende, Jenneke; Van der Aa, Nathalie; van de Wijdeven, Marina J.; Rosenblum, Jessica; Monteiro, Fabíola; Kok, Fernando; Quercia, Nada; Bowdin, Sarah; Dyment, David; Chitayat, David; Alkhunaizi, Ebba; Boonen, Susanne E.; Keren, Boris; Jacquette, Aurelia; Faivre, Laurence; Bezieau, Stephane; Isidor, Bertrand; Rieß, Angelika; Moog, Ute; Lynch, Sally Ann; McVeigh, Terri; Elpeleg, Orly; Smeland, Marie Falkenberg; Fannemel, Madeleine; van Haeringen, Arie; Maas, Saskia M.; Veenstra-Knol, H.E.; Schouten, Meyke; Willemsen, Marjolein H.; Marcelis, Carlo L.; Ockeloen, Charlotte; van der Burgt, Ineke; Feenstra, Ilse; van der Smagt, Jasper; Jezela-Stanek, Aleksandra; Krajewska-Walasek, Malgorzata; González-Lamuño, Domingo; Anderlid, Britt-Marie; Malmgren, Helena; Nordenskjöld, Magnus; Clement, Emma; Hurst, Jane; Metcalfe, Kay; Mansour, Sahar; Lachlan, Katherine; Clayton-Smith, Jill; Hendon, Laura G.; Abdulrahman, Omar A.; Morrow, Eric; McMillan, Clare; Gerdts, Jennifer; Peeden, Joseph; Schrier Vergano, Samantha A.; Valentino, Caitlin; Chung, Wendy K.; Ozmore, Jillian R.; Bedrosian-Sermone, Sandra; Dennis, Anna; Treat, Kayla; Hughes, Susan Starling; Safina, Nicole; Le Pichon, Jean-Baptiste; McGuire, Marianne; Infante, Elena; Madan-Khetarpal, Suneeta; Desai, Sonal; Benke, Paul; Krokosky, Alyson; Cristian, Ingrid; Baker, Laura; Gripp, Karen; Stessman, Holly A.; Eichenberger, Jacob; Jayakar, Parul; Pizzino, Amy; Manning, Melanie Ann; Slattery, Leah; Van Dijck, Anke ; Vulto-van Silfhout, Anneke T. ; Cappuyns, Elisa ; van der Werf, Ilse M. ; Mancini, Grazia M. ; Tzschach, Andreas ; Bernier, Raphael ; Gozes, Illana ; Eichler, Evan E. ; Romano, Corrado ; Lindstrand, Anna ; Nordgren, Ann ; Kvarnung, Malin ; Kleefstra, Tjitske ; de Vries, Bert B.A. ; Küry, Sébastien ; Rosenfeld, Jill A. ; Meuwissen, Marije E. ; Vandeweyer, Geert ; Kooy, R. Frank
In Biological Psychiatry 15 February 2019 85(4):287-297
Academic Journal
Faundes, Víctor; Goh, Stephanie; Akilapa, Rhoda; Bezuidenhout, Heidre; Bjornsson, Hans T.; Bradley, Lisa; Brady, Angela F.; Brischoux-Boucher, Elise; Brunner, Han; BULK, Saskia; Canham, Natalie; Cody, Declan; Dentici, Maria Lisa; Digilio, Maria Cristina; Elmslie, Frances; Fry, Andrew E.; Gill, Harinder; Hurst, Jane; Johnson, Diana; Julia, Sophie; Lachlan, Katherine; Lebel, Robert Roger; Byler, Melissa; Gershon, Eric; Lemire, Edmond; Gnazzo, Maria; Lepri, Francesca Romana; Marchese, Antonia; McEntagart, Meriel; McGaughran, Julie; Mizuno, Seiji; Okamoto, Nobuhiko; Rieubland, Claudine; Rodgers, Jonathan; Sasaki, Erina; Scalais, Emmanuel; Scurr, Ingrid; Suri, Mohnish; van der Burgt, Ineke; Matsumoto, Naomichi; Miyake, Noriko; Benoit, Valérie; Lederer, Damien; Banka, Siddharth
Genet Med
Genetics in Medicine, 23, 7, pp. 1202-1210
Faundes, Víctor; Goh, Stephanie; Akilapa, Rhoda; Bezuidenhout, Heidre; Bjornsson, Hans T; Bradley, Lisa; Brady, Angela F; Brischoux-Boucher, Elise; Brunner, Han; Bulk, Saskia; Canham, Natalie; Cody, Declan; Dentici, Maria Lisa; Digilio, Maria Cristina; Elmslie, Frances; Fry, Andrew E; Gill, Harinder; Hurst, Jane; Johnson, Diana; Julia, Sophie; ... (2021). Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2. Genetics in medicine, 23(7), pp. 1202-1210. Springer Nature 10.1038/s41436-021-01119-8
Faundes, V, Goh, S, Akilapa, R, Bezuidenhout, H, Bjornsson, H T, Brady, A F, Brischoux-Boucher, E, Brunner, H, Bulk, S, Canham, N, Cody, D, Dentici, M L, Digilio, M C, Elmslie, F, Fry, A E, Gill, H, Hurst, J, Johnson, D, Julia, S, Lachlan, K, Lebel, R R, Byler, M, Gershon, E, Lemire, E, Gnazzo, M, Lepri, F R, Marchese, A, McEntagart, M, McGaughran, J, Mizuno, S, Okamoto, N, Rieubland, C, Sasaki, E, Scalais, E, Scurr, I, Suri, M,van der Burgt , I, Matsumoto, N, Miyake, N, Benoit, V, Lederer, D & Banka, S 2021, 'Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2', Genetics in Medicine. https://doi.org/10.1038/s41436-021-01119-8
Genetics in Medicine, 23, 7, pp. 1202-1210
Faundes, Víctor; Goh, Stephanie; Akilapa, Rhoda; Bezuidenhout, Heidre; Bjornsson, Hans T; Bradley, Lisa; Brady, Angela F; Brischoux-Boucher, Elise; Brunner, Han; Bulk, Saskia; Canham, Natalie; Cody, Declan; Dentici, Maria Lisa; Digilio, Maria Cristina; Elmslie, Frances; Fry, Andrew E; Gill, Harinder; Hurst, Jane; Johnson, Diana; Julia, Sophie; ... (2021). Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2. Genetics in medicine, 23(7), pp. 1202-1210. Springer Nature 10.1038/s41436-021-01119-8
Faundes, V, Goh, S, Akilapa, R, Bezuidenhout, H, Bjornsson, H T, Brady, A F, Brischoux-Boucher, E, Brunner, H, Bulk, S, Canham, N, Cody, D, Dentici, M L, Digilio, M C, Elmslie, F, Fry, A E, Gill, H, Hurst, J, Johnson, D, Julia, S, Lachlan, K, Lebel, R R, Byler, M, Gershon, E, Lemire, E, Gnazzo, M, Lepri, F R, Marchese, A, McEntagart, M, McGaughran, J, Mizuno, S, Okamoto, N, Rieubland, C, Sasaki, E, Scalais, E, Scurr, I, Suri, M,
Academic Journal
van der Sluijs, Pleuntje J. ; Jansen, Sandra ; Vergano, Samantha A. ; Adachi-Fukuda, Miho ; Alanay, Yasemin ; AlKindy, Adila ; Baban, Anwar ; Bayat, Allan ; Beck-Wödl, Stefanie ; Berry, Katherine ; Bijlsma, Emilia K. ; Bok, Levinus A. ; Brouwer, Alwin F.J. ; van der Burgt, Ineke ; Campeau, Philippe M. ; Canham, Natalie ; Chrzanowska, Krystyna ; Chu, Yoyo W.Y. ; Chung, Brain H.Y. ; Dahan, Karin ; De Rademaeker, Marjan ; Destree, Anne ; Dudding-Byth, Tracy ; Earl, Rachel ; Elcioglu, Nursel ; Elias, Ellen R. ; Fagerberg, Christina ; Gardham, Alice ; Gener, Blanca ; Gerkes, Erica H. ; Grasshoff, Ute ; van Haeringen, Arie ; Heitink, Karin R. ; Herkert, Johanna C. ; den Hollander, Nicolette S. ; Horn, Denise ; Hunt, David ; Kant, Sarina G. ; Kato, Mitsuhiro ; Kayserili, Hülya ; Kersseboom, Rogier ; Kilic, Esra ; Krajewska-Walasek, Malgorzata ; Lammers, Kylin ; Laulund, Lone W. ; Lederer, Damien ; Lees, Melissa ; López-González, Vanesa ; Maas, Saskia ; Mancini, Grazia M.S. ; Marcelis, Carlo ; Martinez, Francisco ; Maystadt, Isabelle ; McGuire, Marianne ; McKee, Shane ; Mehta, Sarju ; Metcalfe, Kay ; Milunsky, Jeff ; Mizuno, Seiji ; Moeschler, John B. ; Netzer, Christian ; Ockeloen, Charlotte W. ; Oehl-Jaschkowitz, Barbara ; Okamoto, Nobuhiko ; Olminkhof, Sharon N.M. ; Orellana, Carmen ; Pasquier, Laurent ; Pottinger, Caroline ; Riehmer, Vera ; Robertson, Stephen P. ; Roifman, Maian ; Rooryck, Caroline ; Ropers, Fabienne G. ; Rosello, Monica ; Ruivenkamp, Claudia A.L. ; Sagiroglu, Mahmut S. ; Sallevelt, Suzanne C.E.H. ; Sanchis Calvo, Amparo ; Simsek-Kiper, Pelin O. ; Soares, Gabriela ; Solaeche, Lucia ; Sonmez, Fatma Mujgan ; Splitt, Miranda ; Steenbeek, Duco ; Stegmann, Alexander P.A. ; Stumpel, Constance T.R.M. ; Tanabe, Saori ; Uctepe, Eyyup ; Utine, G. Eda ; Veenstra-Knol, Hermine E. ; Venkateswaran, Sunita ; Vilain, Catheline ; Vincent-Delorme, Catherine ; Vulto-van Silfhout, Anneke T. ; Wheeler, Patricia ; Wilson, Golder N. ; Wilson, Louise C. ; Wollnik, Bernd ; Kosho, Tomoki ; Wieczorek, Dagmar ; Eichler, Evan ; Pfundt, Rolph ; de Vries, Bert B.A. ; Clayton-Smith, Jill ; Santen, Gijs W.E.
In Genetics in Medicine June 2019 21(6):1295-1307
Academic Journal
van Trier, Dorothée C. ; Vos, Anna M.C. ; Draaijer, Renske W. ; van der Burgt, Ineke ; Draaisma, Jos M.Th. ; Cruysberg, Johannes R.M.
In Ophthalmology October 2016 123(10):2137-2146
Academic Journal
Lissewski, Christina; Chune, Valérie; Pantaleoni, Francesca; De Luca, Alessandro; Capri, Yline; Brinkmann, Julia; Lepri, Francesca; Daniele, Paola; Leenders, Erika; Mazzanti, Laura; Scarano, Emanuela; Radio, Francesca Clementina; Kutsche, Kerstin; Kuechler, Alma; Gérard, Marion; Ranguin, Kara; Legendre, Marine; Vial, Yoann; van der Burgt, Ineke; Rinne, Tuula; Andreucci, Elena; Mastromoro, Gioia; Digilio, Maria Cristina; Cave, Hélène; Tartaglia, Marco; Zenker, Martin
European Journal of Human Genetics. 29(1):51-60
Academic Journal
Basilicata, M Felicia; Bruel, Ange-Line; Semplicio, Giuseppe; Valsecchi, Claudia Isabelle Keller; Aktaş, Tuğçe; Duffourd, Yannis; Rumpf, Tobias; Morton, Jenny; Bache, Iben; Szymanski, Witold; Gilissen, Christian; Vanakker, Olivier; Ounap, Katrin; Mittler, Gerhard; van Der Burgt, Ineke; El Chehadeh, Salima; Cho, Megan; Pfundt, Rolph; Tan, Tiong Yang; Kirchhoff, Maria; Menten, Björn; Vergult, Sarah; Lindstrom, Kristin; Reis, André; Johnson, Diana; Fryer, Alan; Mckay, Victoria; Ddd Study,; Fisher, Richard; Thauvin-Robinet, Christel; Francis, David; Roscioli, Tony; Pajusalu, Sander; Radtke, Kelly; Ganesh, Jaya; Brunner, Han; Wilson, Meredith; Faivre, Laurence; Kalscheuer, Vera; Thevenon, Julien; Akhtar, Asifa
Nature Genetics, 50, 10, pp. 1442-1451
Nature Genetics
Nature Genetics
Academic Journal
van Nierop, Josephine W.I. ; van Trier, Dorothée C. ; van der Burgt, Ineke ; Draaisma, Jos M.T. ; Mylanus, Emmanuel A.M. ; Snik, Ad F. ; Admiraal, Ronald J.C. ; Kunst, Henricus P.M.
In International Journal of Pediatric Otorhinolaryngology June 2017 97:228-234
Academic Journal
Taillandier, Agnès; Domingues, Christelle; Dufour, Annika; Debiais, Françoise; Guggenbuhl, Pascal; Roux, Christian; Cormier, Catherine; Cortet, Bernard; Porquet-Bordes, Valérie; Coury, Fabienne; Geneviève, David; Chiesa, Jean; Colin, Thierry; Fletcher, Elaine; Guichet, Agnès; Javier, Rose-Marie; Laroche, Michel; Laurent, Michael; Lausch, Ekkehart; Leheup, Bruno; Lukas, Cédric; Schwabe, Georg; van Der Burgt, Ineke; Muti, Christine; Simon-Bouy, Brigitte; Mornet, Etienne
Journal of Bone and Mineral Metabolism. 36:723-733
Academic Journal
van der Sluijs, Pleuntje J.; Jansen, Sandra; Vergano, Samantha A.; Adachi-Fukuda, Miho; Alanay, Yasemin; AlKindy, Adila; Baban, Anwar; Bayat, Allan; Beck-Wödl, Stefanie; Berry, Katherine; Bijlsma, Emilia K.; Bok, Levinus A.; Brouwer, Alwin F. J.; van der Burgt, Ineke; Campeau, Philippe M.; Canham, Natalie; Chrzanowska, Krystyna; Chu, Yoyo W. Y.; Chung, Brain H. Y.; Dahan, Karin; de Rademaeker, Marjan; Destree, Anne; Dudding-Byth, Tracy; Earl, Rachel; Elcioglu, Nursel; Elias, Ellen R.; Fagerberg, Christina; Gardham, Alice; Gener, Blanca; Gerkes, Erica H.; Grasshoff, Ute; van Haeringen, Arie; Heitink, Karin R.; Herkert, Johanna C.; den Hollander, Nicolette S.; Horn, Denise; Hunt, David; Kant, Sarina G.; Kato, Mitsuhiro; Kayserili, H. lya; Kersseboom, Rogier; Kilic, Esra; Krajewska-Walasek, Malgorzata; Lammers, Kylin; Laulund, Lone W.; Lederer, Damien; Lees, Melissa; López-González, Vanesa; Maas, Saskia; Mancini, Grazia M. S.; Marcelis, Carlo; Martinez, Francisco; Maystadt, Isabelle; McGuire, Marianne; McKee, Shane; Mehta, Sarju; Metcalfe, Kay; Milunsky, Jeff; Mizuno, Seiji; Moeschler, John B.; Netzer, Christian; Ockeloen, Charlotte W.; Oehl-Jaschkowitz, Barbara; Okamoto, Nobuhiko; Olminkhof, Sharon N. M.; Orellana, Carmen; Pasquier, Laurent; Pottinger, Caroline; Riehmer, Vera; Robertson, Stephen P.; Roifman, Maian; Rooryck, Caroline; Ropers, Fabienne G.; Rosello, Monica; Ruivenkamp, Claudia A. L.; Sagiroglu, Mahmut S.; Sallevelt, Suzanne C. E. H.; Calvo, Amparo Sanchis; Simsek-Kiper, Pelin O.; Soares, Gabriela; Solaeche, Lucia; Sonmez, Fatma Mujgan; Splitt, Miranda; Steenbeek, Duco; Stegmann, Alexander P. A.; Stumpel, Constance T. R. M.; Tanabe, Saori; Uctepe, Eyyup; Utine, G. Eda; Veenstra-Knol, Hermine E.; Venkateswaran, Sunita; Vilain, Catheline; Vincent-Delorme, Catherine; Vulto-van Silfhout, Anneke T.; Wheeler, Patricia; Wilson, Golder N.; Wilson, Louise C.; Wollnik, Bernd; Kosho, Tomoki; Wieczorek, Dagmar; Eichler, Evan; Pfundt, Rolph; de Vries, Bert B. A.; Clayton-Smith, Jill; Santen, Gijs W. E.
Academic Journal
Stessman, Holly A.F. ; Willemsen, Marjolein H. ; Fenckova, Michaela ; Penn, Osnat ; Hoischen, Alexander ; Xiong, Bo ; Wang, Tianyun ; Hoekzema, Kendra ; Vives, Laura ; Vogel, Ida ; Brunner, Han G. ; van der Burgt, Ineke ; Ockeloen, Charlotte W. ; Schuurs-Hoeijmakers, Janneke H. ; Klein Wassink-Ruiter, Jolien S. ; Stumpel, Connie ; Stevens, Servi J.C. ; Vles, Hans S. ; Marcelis, Carlo M. ; van Bokhoven, Hans ; Cantagrel, Vincent ; Colleaux, Laurence ; Nicouleau, Michael ; Lyonnet, Stanislas ; Bernier, Raphael A. ; Gerdts, Jennifer ; Coe, Bradley P. ; Romano, Corrado ; Alberti, Antonino ; Grillo, Lucia ; Scuderi, Carmela ; Nordenskjöld, Magnus ; Kvarnung, Malin ; Guo, Hui ; Xia, Kun ; Piton, Amélie ; Gerard, Bénédicte ; Genevieve, David ; Delobel, Bruno ; Lehalle, Daphne ; Perrin, Laurence ; Prieur, Fabienne ; Thevenon, Julien ; Gecz, Jozef ; Shaw, Marie ; Pfundt, Rolph ; Keren, Boris ; Jacquette, Aurelia ; Schenck, Annette ; Eichler, Evan E. ; Kleefstra, Tjitske
In The American Journal of Human Genetics 3 March 2016 98(3):541-552
Academic Journal
van Trier, Dorothée C.; van der Burgt, Ineke; Draaijer, Renske W.; Cruysberg, Johannes R. M.; Noordam, Cees; Draaisma, Jos M.
European Journal of Pediatrics. 177(8):1293-1298
Academic Journal
van Trier, Dorothée C. ; van Nierop, Josephine ; Draaisma, Jos M. Th. ; van der Burgt, Ineke ; Kunst, Henricus ; Croonen, Ellen A. ; Admiraal, Ronald J.C.
In International Journal of Pediatric Otorhinolaryngology June 2015 79(6):874-878
Academic Journal
De Schepper, Jean; François, Inge; Bourguignon, Jean-Pierre; Craen, Margarita; Otten, Barto B.J.; Van Der Burgt, Ineke J A M I.; Massa, Guy
Acta Paediatrica, 86, 9, pp. 943-946
Acta Paediatrica, 86, pp. 943-946
Acta Paediatrica, 86, pp. 943-946
Academic Journal
Zenker, Martin; Horn, Denise; Wieczorek, Dagmar; Allanson, Judith; Pauli, S.; Burgt, Ineke van der; Dörr, Helmuth G.; Gaspar, Hubert Bobby; Hofbeck, Michael; Gillessen-Kaesbach, Gabriele; Koch, Andreas; Meinecke, Peter; Mundlos, Stefan; Nowka, Anja; Rauch, Anita; Reif, Silke; Schnakenburg, Christian von; Seidel, H.; Wehner, Lars Erik; Zweier, Christiane; Bauhuber, Susanne; Matejas, Verena; Kratz, Christian Peter; Thomas, Christoph; Kutsche, Kerstin
Journal of Medical Genetics, 44, 10, pp. 651-6
Academic Journal
Redin, Claire; Brand, Harrison; Collins, Ryan L; Kammin, Tammy; Mitchell, Elyse; Hodge, Jennelle C; Hanscom, Carrie; Pillalamarri, Vamsee; Seabra, Catarina M; Abbott, Mary-Alice; Abdul-Rahman, Omar A; Aberg, Erika; Adley, Rhett; Alcaraz-Estrada, Sofia L; Alkuraya, Fowzan S; An, Yu; Anderson, Mary-Anne; Antolik, Caroline; Anyane-Yeboa, Kwame; Atkin, Joan F; Bartell, Tina; Bernstein, Jonathan A; Beyer, Elizabeth; Blumenthal, Ian; Bongers, Ernie M H F; Brilstra, Eva H; Brown, Chester W; Brüggenwirth, Hennie T; Callewaert, Bert; Chiang, Colby; Corning, Ken; Cox, Helen; Cuppen, Edwin; Currall, Benjamin B; Cushing, Tom; David, Dezso; Deardorff, Matthew A; Dheedene, Annelies; D'Hooghe, Marc; de Vries, Bert B A; Earl, Dawn L; Ferguson, Heather L; Fisher, Heather; FitzPatrick, David R; Gerrol, Pamela; Giachino, Daniela; Glessner, Joseph T; Gliem, Troy; Grady, Margo; Graham, Brett H; Griffis, Cristin; Gripp, Karen W; Gropman, Andrea L; Hanson-Kahn, Andrea; Harris, David J; Hayden, Mark A; Hill, Rosamund; Hochstenbach, Ron; Hoffman, Jodi D; Hopkin, Robert J; Hubshman, Monika W; Innes, A Micheil; Irons, Mira; Irving, Melita; Jacobsen, Jessie C; Janssens, Sandra; Jewett, Tamison; Johnson, John P; Jongmans, Marjolijn C; Kahler, Stephen G; Koolen, David A; Korzelius, Jerome; Kroisel, Peter M; Lacassie, Yves; Lawless, William; Lemyre, Emmanuelle; Leppig, Kathleen; Levin, Alex V; Li, Haibo; Li, Hong; Liao, Eric C; Lim, Cynthia; Lose, Edward J; Lucente, Diane; Macera, Michael J; Manavalan, Poornima; Mandrile, Giorgia; Marcelis, Carlo L; Margolin, Lauren; Mason, Tamara; Masser-Frye, Diane; McClellan, Michael W; Mendoza, Cinthya J Zepeda; Menten, Björn; Middelkamp, Sjors; Mikami, Liya R; Moe, Emily; Mohammed, Shehla; Mononen, Tarja; Mortenson, Megan E; Moya, Graciela; Nieuwint, Aggie W; Ordulu, Zehra; Parkash, Sandhya; Pauker, Susan P; Pereira, Shahrin; Perrin, Danielle; Phelan, Katy; Aguilar, Raul E Piña; Poddighe, Pino J; Pregno, Giulia; Raskin, Salmo; Reis, Linda; Rhead, William; Rita, Debra; Renkens, Ivo; Roelens, Filip; Ruliera, Jayla; Rump, Patrick; Schilit, Samantha L P; Shaheen, Ranad; Sparkes, Rebecca; Spiegel, Erica; Stevens, Blair; Stone, Matthew R; Tagoe, Julia; Thakuria, Joseph V; van Bon, Bregje W; van de Kamp, Jiddeke; van Der Burgt, Ineke; van Essen, Ton; van Ravenswaaij-Arts, Conny M; van Roosmalen, Markus J; Vergult, Sarah; Volker-Touw, Catharina M L; Warburton, Dorothy P; Waterman, Matthew J; Wiley, Susan; Wilson, Anna; Yerena-de Vega, Maria de la Concepcion A; Zori, Roberto T; Levy, Brynn; Brunner, Han G; de Leeuw, Nicole; Kloosterman, Wigard P; Thorland, Erik C; Morton, Cynthia C; Gusella, James F; Talkowski, Michael E
Nature Genetics. January, 2017, Vol. 49 Issue 1, p36, 10 p.
Academic Journal
Flex, Elisabetta; Jaiswal, Mamta; Pantaleoni, Francesca; Martinelli, Simone; Strullu, Marion; Fansa, Eyad K; Caye, Aurélie; De Luca, Alessandro; Lepri, Francesca; Dvorsky, Radovan; Pannone, Luca; Paolacci, Stefano; Zhang, Si-Cai; Fodale, Valentina; Bocchinfuso, Gianfranco; Rossi, Cesare; Burkitt-Wright, Emma M M; Farrotti, Andrea; Stellacci, Emilia; Cecchetti, Serena; Ferese, Rosangela; Bottero, Lisabianca; Castro, Silvana; Fenneteau, Odile; Brethon, Benoit; Sanchez, Massimo; Roberts, Amy E; Yntema, Helger G; Van Der Burgt, Ineke; Cianci, Paola; Bondeson, Marie-Louise; Cristina Digilio, Maria; Zampino, Giuseppe; Kerr, Bronwyn; Aoki, Yoko; Loh, Mignon L; Palleschi, Antonio; Di Schiavi, Elia; Carè, Alessandra; Selicorni, Angelo; Dallapiccola, Bruno; Cirstea, Ion C; Stella, Lorenzo; Zenker, Martin; Gelb, Bruce D; Cavé, Hélène; Ahmadian, Mohammad R; Tartaglia, Marco
Human Molecular Genetics. 23(16):4315-4327
Academic Journal
Kooper, Angelique J.A.; Faas, Brigitte H.W.; Feuth, Ton; Creemers, Johan W.T.; Zondervan, Hans H.; Boekkooi, Peter F.; Quartero, Rik W.P.; Rijnders, Robbert J.P.; van der Burgt, Ineke; van Kessel, Ad Geurts; Smits, Arie P.T.
The Journal of Molecular Diagnostics. 11(1):17-24
Academic Journal
Croonen, Ellen A.; Essink, Marlou; van der Burgt, Ineke; Draaisma, Jos M.; Noordam, Cees; Nijhuis‐van der Sanden, Maria W. G.
American Journal of Medical Genetics Part A. Sep 01, 2017 173(9):2335-2345
Academic Journal
Huber, Céline; Dias-Santagata, Dora; Glaser, Anna; O'Sullivan, James; Brauner, Raja; Wu, Kenneth; Xu, Xinsong; Pearce, Kerra; Wang, Rong; Uzielli, Maria Luisa Giovannucci; Dagoneau, Nathalie; Chemaitilly, Wassim; Superti-Furga, Andrea; Dos Santos, Heloisa; Mégarbané, André; Morin, Gilles; Gillessen-Kaesbach, Gabriele; Hennekam, Raoul; Van Der Burgt, Ineke; Black, Graeme C M; Clayton, Peter E.; Read, Andrew; Le Merrer, Martine; Scambler, Peter J.; Munnich, Arnold; Pan, Zhen Qiang; Winter, Robin; Cormier-Daire, Valérie
Nature Genetics, 37, 10, pp. 1119-24
Huber, C, Dias-Santagata, D, Glaser, A, O'Sullivan, J, Brauner, R, Wu, K, Xu, X, Pearce, K, Wang, R, Uzielli, M L G, Dagoneau, N, Chemaitilly, W, Superti-Furga, A, Dos Santos, H, Mégarbané, A, Morin, G, Gillessen-Kaesbach, G, Hennekam, R,Van Der Burgt , I, Black, G C M, Clayton, P E, Read, A, Le Merrer, M, Scambler, P J, Munnich, A, Pan, Z Q, Winter, R & Cormier-Daire, V 2005, 'Identification of mutations in CUL7 in 3-M syndrome', Nature Genetics, vol. 37, no. 10, pp. 1119-1124. https://doi.org/10.1038/ng1628
Huber, C, Dias-Santagata, D, Glaser, A, O'Sullivan, J, Brauner, R, Wu, K, Xu, X, Pearce, K, Wang, R, Uzielli, M L G, Dagoneau, N, Chemaitilly, W, Superti-Furga, A, Dos Santos, H, Mégarbané, A, Morin, G, Gillessen-Kaesbach, G, Hennekam, R,
Academic Journal
American Journal of Medical Genetics Part A. Nov 01, 2017 173(11):2968-2972
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