학술논문
'학술논문'
에서 검색결과 69건 | 목록
1~10
Academic Journal
Angius, Andrea; Baker, Janice A.; Bedoukian, Emma; Bhambhani, Vikas; Bodamer, Olaf; O’Brien, Alan; Clayton-Smith, Jill; Crisponi, Laura; Cueto González, Anna María; the DDD study; Devriendt, Koenraad; Garrido, Elena Dominguez; Ehmke, Nadja; van Eerde, Albertien; van den Elzen, Annette P.M.; Faivre, Laurence; Fisher, Laura; Flores-Daboub, Josue A.; Foster, Alison; Friedman, Jennifer; Gabau, Elisabeth; Galazzi, Elena; García-Miñaúr, Sixto; Garavelli, Livia; Gardeitchik, Thatjana; Gerkes, Erica H.; van Gils, Julien; Giltay, Jacques C.; Garcia, Aixa Gonzalez; Heimdal, Ketil Riddervold; Horn, Denise; Houge, Gunnar; Hufnagel, Sophia B.; Ilencikova, Denisa; Julia, Sophie; Kant, Sarina G.; Kinning, Esther; Klee, Eric W.; Kois, Chelsea; Kovačević, Maja; Lachmeijer, A.M.A. (Guus); Lanpher, Brendan; Lebrun, Marine; Leon, Eyby; Lichty, Angie Ward; Lin, Ruth; Llano-Rivas, Isabel; Lynch, Sally Ann; Maas, Saskia M.; Maitz, Silvia B.; McKee, Shane; Melis, Daniela; Merati, Elisabetta; Merla, Giuseppe; Newbury-Ecob, Ruth; Nizon, Mathilde; Park, Soo-Mi; Patterson, Jennifer; Petit, Florence; Peeters, Hilde; Persani, Luca; Persico, Ivana; Pes, Valentina; Pollazzon, Marzia; Potjer, Thomas; Potocki, Lorraine; Pottinger, Carrie; Prasad, Chitra; Prijoles, Eloise J.; Ragge, Nicola K.; Rake, Jan Peter; van Ravenswaaij-Arts, Conny M.A.; Rea, Gillian; Ruivenkamp, Claudia; Rutz, Audrey; Saitta, Sulagna C.; Russo, Rossana Sanchez; Santen, Gijs W.E.; Schaefer, Elise; Shashi, Vandana; Schultz-Rogers, Laura; Sluga, Andrea; Sotgiu, Stefano; Steichen-Gersdorf, Elisabeth; Sullivan, Jennifer A.; Sun, Yu; Suri, Mohnish; Tartaglia, Marco; Tedder, Matt; Terhal, Paulien; Tully, Ian; Verbeek, Nienke; Wenzel, Maren; White, Susan M.; Xiao, Bing; Haghshenas, Sadegheh; Bout, Hidde J.; Schijns, Josephine M.; Levy, Michael A.; Kerkhof, Jennifer; Bhai, Pratibha; McConkey, Haley; Jenkins, Zandra A.; Williams, Ella M.; Halliday, Benjamin J.; Huisman, Sylvia A.; Lauffer, Peter; de Waard, Vivian; Witteveen, Laura; Banka, Siddharth; Brady, Angela F.; Hurst, Anna C.E.; Kaiser, Frank J.; Lacombe, Didier; Martinez-Monseny, Antonio F.; Fergelot, Patricia; Monteiro, Fabíola P.; Parenti, Ilaria; Santos-Simarro, Fernando; Simpson, Brittany N.; Alders, Mariëlle; Robertson, Stephen P.; Sadikovic, Bekim; Menke, Leonie A.
In Human Genetics and Genomics Advances 18 July 2024 5(3)
Academic Journal
Journal für Klinische Endokrinologie und Stoffwechsel: Austrian Journal of Clinical Endocrinology and Metabolism. 16(4):132-137
Academic Journal
Bruel, Ange-Line; Franco, Brunella; Duffourd, Yannis; Thevenon, Julien; Jego, Laurence; Lopez, Estelle; Deleuze, Jean-François; Doummar, Diane; Giles, Rachel H; Johnson, Colin A; Huynen, Martijn A; Chevrier, Véronique; Burglen, Lydie; Morleo, Manuela; Desguerres, Isabelle; Pierquin, Geneviève; Doray, Bérénice; Gilbert-Dussardier, Brigitte; Reversade, Bruno; Steichen-Gersdorf, Elisabeth; Baumann, Clarisse; Panigrahi, Inusha; Fargeot-Espaliat, Anne; Dieux, Anne; David, Albert; Goldenberg, Alice; Bongers, Ernie; Gaillard, Dominique; Argente, Jesús; Aral, Bernard; Gigot, Nadège; St-Onge, Judith; Birnbaum, Daniel; Phadke, Shubha R; Cormier-Daire, Valérie; Eguether, Thibaut; Pazour, Gregory J; Herranz-Pérez, Vicente; Goldstein, Jaclyn S; Pasquier, Laurent; Loget, Philippe; Saunier, Sophie; Mégarbané, André; Rosnet, Olivier; Leroux, Michel R; Wallingford, John B; Blacque, Oliver E; Nachury, Maxence V; Attie-Bitach, Tania; Rivière, Jean-Baptiste; Faivre, Laurence; Thauvin-Robinet, Christel
Journal of Medical Genetics. 54(6)
Academic Journal
Marlies Colman; Tim Van Damme; Elisabeth Steichen-Gersdorf; Franco Laccone; Sheela Nampoothiri; Delfien Syx; Brecht Guillemyn; Sofie Symoens; Fransiska Malfait
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)
Academic Journal
Johanne Dubail; Céline Huber; Sandrine Chantepie; Stephan Sonntag; Beyhan Tüysüz; Ercan Mihci; Christopher T. Gordon; Elisabeth Steichen-Gersdorf; Jeanne Amiel; Banu Nur; Irene Stolte-Dijkstra; Albertien M. van Eerde; Koen L. van Gassen; Corstiaan C. Breugem; Alexander Stegmann; Caroline Lekszas; Reza Maroofian; Ehsan Ghayoor Karimiani; Arnaud Bruneel; Nathalie Seta; Arnold Munnich; Dulce Papy-Garcia; Muriel De La Dure-Molla; Valérie Cormier-Daire
Nature Communications, Vol 9, Iss 1, Pp 1-15 (2018)
Academic Journal
Colman, Marlies; Van Damme, Tim; Steichen-Gersdorf, Elisabeth; Laccone, Franco; Nampoothiri, Sheela; Syx, Delfien; Guillemyn, Brecht; Symoens, Sofie; Malfait, Fransiska
Orphanet Journal of Rare Diseases. 14(1)
Academic Journal
Journal of Pediatric Endocrinology and Metabolism. 28(7-8):967-970
Academic Journal
Beyens, Aude; Albuisson, Juliette; Boel, Annekatrien; Al-Essa, Mazen; Al-Manea, Waheed; Bonnet, Damien; Bostan, Ozlem; Boute, Odile; Busa, Tiffany; Canham, Nathalie; Cil, Ergun; Coucke, Paul J.; Cousin, Margot A.; Dasouki, Majed; De Backer, Julie; De Paepe, Anne; De Schepper, Sofie; De Silva, Deepthi; Devriendt, Koenraad; De Wandele, Inge; Deyle, David R.; Dietz, Harry; Dupuis-Girod, Sophie; Fontenot, Eudice; Fischer-Zirnsak, Björn; Gezdirici, Alper; Ghoumid, Jamal; Giuliano, Fabienne; Baena, Neus; Haider, Mohammed Z.; Hardin, Joshua S.; Jeunemaitre, Xavier; Klee, Eric W.; Kornak, Uwe; Landecho, Manuel F.; Legrand, Anne; Loeys, Bart; Lyonnet, Stanislas; Michael, Helen; Moceri, Pamela; Mohammed, Shehla; Muiño-Mosquera, Laura; Nampoothiri, Sheela; Pichler, Karin; Prescott, Katrina; Rajeb, Anna; Ramos-Arroyo, Maria; Rossi, Massimiliano; Salih, Mustafa; Seidahmed, Mohammed Z.; Schaefer, Elise; Steichen-Gersdorf, Elisabeth; Temel, Sehime; Uysal, Fahrettin; Vanhomwegen, Marine; Van Laer, Lut; Van Maldergem, Lionel; Warner, David; Willaert, Andy; Collins II, Tom R.; Taylor, Andrea; Davis, Elaine C.; Zarate, Yuri; Callewaert, Bert
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(8):1894-1895
Academic Journal
Pediatric Dermatology. Sept-Oct, 2007, Vol. 24 Issue 5, p536, 5 p.
Academic Journal
Edelbauer, Monika; Kshirsagar, Sudhir; Riedl, Magdalena; Billing, Heiko; Tönshoff, Burkhard; Haffner, Dieter; Cortina, Gerard; Amon, Oliver; Ross, Sophia; Dötsch, Jörg; Wechselberger, Gottfried; Weber, Lutz T.; Dablander, Martin; Anliker, Markus; Griesmacher, Andrea; Steichen-Gersdorf, Elisabeth
Journal of Clinical Immunology. June 2012 32(3):477-487
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