학술논문
'학술논문'
에서 검색결과 100건 | 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
Pozojevic, Jelena; Parenti, Ilaria; Graul-Neumann, Luitgard; Ruiz Gil, Sara; Watrin, Erwan; Wendt, Kerstin S.; Werner, Ralf; Strom, Tim M.; Gillessen-Kaesbach, Gabriele; Kaiser, Frank J.
In European Journal of Medical Genetics November 2018 61(11):680-684
Academic Journal
Leitão, Elsa; Schröder, Christopher; Parenti, Ilaria; Dalle, Carine; Rastetter, Agnès; Kühnel, Theresa; Kuechler, Alma; Kaya, Sabine; Gérard, Bénédicte; Schaefer, Elise; Nava, Caroline; Drouot, Nathalie; Engel, Camille; Piard, Juliette; Duban-Bedu, Bénédicte; Villard, Laurent; Stegmann, Alexander PA; Vanhoutte, Els K; Verdonschot, Job AJ; Kaiser, Frank J; Tran Mau-Them, Frédéric; Scala, Marcello; Striano, Pasquale; Frints, Suzanna GM; Argilli, Emanuela; Sherr, Elliott H; Elder, Fikret; Buratti, Julien; Keren, Boris; Mignot, Cyril; Héron, Delphine; Mandel, Jean-Louis; Gecz, Jozef; Kalscheuer, Vera M; Horsthemke, Bernhard; Piton, Amélie; Depienne, Christel
Nature Communications. 13(1)
Academic Journal
Latorre-Pellicer, Ana; Gil-Salvador, Marta; Parenti, Ilaria; Lucia-Campos, Cristina; Trujillano, Laura; Marcos-Alcalde, Iñigo; Arnedo, María; Ascaso, Ángela; Ayerza-Casas, Ariadna; Antoñanzas-Pérez, Rebeca; Gervasini, Cristina; Piccione, Maria; Mariani, Milena; Weber, Axel; Kanber, Deniz; Kuechler, Alma; Munteanu, Martin; Khuller, Katharina; Bueno-Lozano, Gloria; Puisac, Beatriz
Academic Journal
Fountain, Michael D; Oleson, David S; Rech, Megan E; Segebrecht, Lara; Hunter, Jill V; McCarthy, John M; Lupo, Philip J; Holtgrewe, Manuel; Moran, Rocio; Rosenfeld, Jill A; Isidor, Bertrand; Le Caignec, Cédric; Saenz, Margarita S; Pedersen, Robert C; Morgan, Thomas M; Pfotenhauer, Jean P; Xia, Fan; Bi, Weimin; Kang, Sung-Hae L; Patel, Ankita; Krantz, Ian D; Raible, Sarah E; Smith, Wendy; Cristian, Ingrid; Torti, Erin; Juusola, Jane; Millan, Francisca; Wentzensen, Ingrid M; Person, Richard E; Küry, Sébastien; Bézieau, Stéphane; Uguen, Kévin; Férec, Claude; Munnich, Arnold; van Haelst, Mieke; Lichtenbelt, Klaske D; van Gassen, Koen; Hagelstrom, Tanner; Chawla, Aditi; Perry, Denise L; Taft, Ryan J; Jones, Marilyn; Masser-Frye, Diane; Dyment, David; Venkateswaran, Sunita; Li, Chumei; Escobar, Luis F; Horn, Denise; Spillmann, Rebecca C; Peña, Loren; Wierzba, Jolanta; Strom, Tim M; Parenti, Ilaria; Kaiser, Frank J; Ehmke, Nadja; Schaaf, Christian P
Genetics in Medicine. 21(8)
Academic Journal
Pallotta, Maria M.; Di Nardo, Maddalena; Hennekam, Raoul C. M.; Kaiser, Frank J.; Parenti, Ilaria; Pié, Juan; Ramos, Feliciano J.; Kline, Antonie D.; Musio, Antonio
American Journal of Medical Genetics. Part A; Jan2023, Vol. 191 Issue 1, p292-295, 4p
Academic Journal
Parenti, Ilaria; Lehalle, Daphné; Nava, Caroline; Torti, Erin; Leitão, Elsa; Person, Richard; Mizuguchi, Takeshi
Human Genetics. July 2021, Vol. 140 Issue 7, p1109, 12 p.
Academic Journal
Zuin, Jessica; Casa, Valentina; Pozojevic, Jelena; Kolovos, Petros; van den Hout, Mirjam C. G. N.; van Ijcken, Wilfred F. J.; Parenti, Ilaria; Braunholz, Diana; Baron, Yorann; Watrin, Erwan; Kaiser, Frank J.; Wendt, Kerstin S.
Academic Journal
Sheppard, Sarah E.; Bryant, Laura; Wickramasekara, Rochelle N.; Vaccaro, Courtney; Robertson, Brynn; Hallgren, Jodi; Hulen, Jason; Watson, Cynthia J.; Faundes, Victor; Duffourd, Yannis; Lee, Pearl; Simon, M. Celeste; de la Cruz, Xavier; Padilla, Natalia; Flores-Mendez, Marco; Akizu, Naiara; Smiler, Jacqueline; Da Silva, Renata Pellegrino; Li, Dong; March, Michael; Diaz-Rosado, Abdias; de Barcelos, Isabella Peixoto; Choa, Zhao Xiang; Lim, Chin Yan; Dubourg, Christele; Journel, Hubert; Demurger, Florence; Mulhern, Maureen; Akman, Cigdem; Lippa, Natalle; Andrews, Marisa; Baldridge, Dustin; Constantino, John; Rauch, Anita; van Haeingen, Arie; Snoeck-Streef, Irina; Chow, Penny; Hing, Anne; Graham, John M., Jr.; Au, Margaret; Falvre, Laurence; Shen, Wel; Mao, Rong; Palumbos, Janice; Viskochil, David; Gahl, William; Tifft, Cynthia; Macnamara, Ellen; Hauser, Natalie; Miller, Rebecca; Maffeo, Jessica; Afenjar, Alexandra; Doummar, Diane; Keren, Boris; Arn, Pamela; Mackllin-Mantla, Sarah; Meerschaut, Ilse; Callewaert, Bert; Rels, Andre; Zweler, Christiane; Brewer, Carole; Saggar, Anand; Smeland, Marie F.; Kumar, Ajith; Elmslie, Frances; Deshpande, Charu; Nizon, Mathilde; Cogne, Benjamin; van Ierland, Yvette; Wilke, Martina; van Slegtenhorst, Marjon; Koudijs, Suzanne; Chen, Jin Yun; Dredge, David; Pler, Danielle; Wortmann, Saskia; Kamsteeg, Erik-Jann; Koch, Johannes; Haynes, Devon; Pollack, Lynda; Titheradge, Hannah; Ranguin, Kara; Denomme-Pichon, Anne-Sophie; Weber, Sacha; de la Fuente, Ruben Perez; del Pozo, Jaime Sanchez; Rosales, Jose Miguel Lezana; Joset, Pascal; Steindl, Katharina; Rauch, Ani; Mei, Davide; Mari, Francesco; Guerrini, Renzo; Lespinasse, James; Mau-Then, Frederic Tran; Philippe, Christophe; Dauriat, Benjamin; Raymond, Laure; Moutton, Sebastien; Cueto-Gonzalez, Anna M.; Tan, Tiong Yang; Mignot, Cyril; Grotto, Sarah; Renaldo, Florence; Drivas, Theodore G.; Hennessy, Laura; Raper, Anna; Parenti, Ilaria; Kaiser, Frank J.; Kuechler, Alma; Busk, Oyvind L.; Islam, Lily; Siedlik, Jacob A.; Henderson, Lindsay B.; Juusola, Jane; Person, Richard; Schnur, Rhonda E.; Vitobello, Antonio; Banka, Siddharth; Bhoj, Elizabeth J.; Stessman, Holly A. F.
Academic Journal
Frontiers in Neuroscience; 11/5/2021, Vol. 15, p1-11, 11p
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