학술논문
'학술논문'
에서 검색결과 148건 | 목록
1~10
Academic Journal
Caraffi, Stefano Giuseppe; van der Laan, Liselot; Rooney, Kathleen; Trajkova, Slavica; Zuntini, Roberta; Relator, Raissa; Haghshenas, Sadegheh; Levy, Michael A.; Baldo, Chiara; Mandrile, Giorgia; Lauzon, Carolyn; Cordelli, Duccio Maria; Ivanovski, Ivan; Fetta, Anna; Sukarova, Elena; Brusco, Alfredo; Pavinato, Lisa; Pullano, Verdiana; Zollino, Marcella; McConkey, Haley; Tartaglia, Marco; Ferrero, Giovanni Battista; Sadikovic, Bekim; Garavelli, Livia
European Journal of Human Genetics. 32(6):619-629
Academic Journal
Vos, Niels; Haghshenas, Sadegheh; van der Laan, Liselot; Russel, Perle K. M.; Rooney, Kathleen; Levy, Michael A.; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Maas, Saskia M.; Vissers, Lisenka E. L. M.; de Vries, Bert B. A.; Pfundt, Rolph; Elting, Mariet W.; van Hagen, Johanna M.; Verbeek, Nienke E.; Jongmans, Marjolijn C. J.; Lakeman, Phillis; Rumping, Lynne; Bosch, Danielle G. M.; Vitobello, Antonio; Thauvin-Robinet, Christel; Faivre, Laurence; Nambot, Sophie; Garde, Aurore; Willems, Marjolaine; Genevieve, David; Nicolas, Gaël; Busa, Tiffany; Toutain, Annick; Gérard, Marion; Bizaoui, Varoona; Isidor, Bertrand; Merla, Giuseppe; Accadia, Maria; Schwartz, Charles E.; Ounap, Katrin; Hoffer, Mariëtte J. V.; Nezarati, Marjan M.; van den Boogaard, Marie-José H.; Tedder, Matthew L.; Rogers, Curtis; Brusco, Alfredo; Ferrero, Giovanni B.; Spodenkiewicz, Marta; Sidlow, Richard; Mussa, Alessandro; Trajkova, Slavica; McCann, Emma; Mroczkowski, Henry J.; Jansen, Sandra; Donker-Kaat, Laura; Duijkers, Floor A. M.; Stuurman, Kyra E.; Mannens, Marcel M. A. M.; Alders, Mariëlle; Henneman, Peter; White, Susan M.; Sadikovic, Bekim; van Haelst, Mieke M.
Human Genetics. 143(6):761-773
Academic Journal
Kumps, Candy; D’haenens, Erika; Kerkhof, Jennifer; McConkey, Haley; Alders, Marielle; Sadikovic, Bekim; Vanakker, Olivier M.
European Journal of Human Genetics. 31(12):1350-1354
Academic Journal
Haghshenas, Sadegheh; Foroutan, Aidin; Bhai, Pratibha; Levy, Michael A.; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Skinner, Cindy D.; Caylor, Raymond C.; Tedder, Matthew L.; Stevenson, Roger E.; Sadikovic, Bekim; Schwartz, Charles E.
European Journal of Human Genetics. 31(8):879-886
Academic Journal
Morad Ansari; Kamli N.W. Faour; Akiko Shimamura; Graeme Grimes; Emeline M. Kao; Erica R. Denhoff; Ana Blatnik; Daniel Ben-Isvy; Lily Wang; Benjamin M. Helm; Helen Firth; Amy M. Breman; Emilia K. Bijlsma; Aiko Iwata-Otsubo; Thomy J.L. de Ravel; Vincent Fusaro; Alan Fryer; Keith Nykamp; Lara G. Stühn; Tobias B. Haack; G. Christoph Korenke; Panayiotis Constantinou; Kinga M. Bujakowska; Karen J. Low; Emily Place; Jennifer Humberson; Melanie P. Napier; Jessica Hoffman; Jane Juusola; Matthew A. Deardorff; Wanqing Shao; Shira Rockowitz; Ian Krantz; Maninder Kaur; Sarah Raible; Victoria Dortenzio; Sabine Kliesch; Moriel Singer-Berk; Emily Groopman; Stephanie DiTroia; Sonia Ballal; Siddharth Srivastava; Kathrin Rothfelder; Saskia Biskup; Jessica Rzasa; Jennifer Kerkhof; Haley McConkey; Bekim Sadikovic; Sarah Hilton; Siddharth Banka; Frank Tüttelmann; Donald F. Conrad; Anne O’Donnell-Luria; Michael E. Talkowski; David R. FitzPatrick; Philip M. Boone
HGG Advances, Vol 5, Iss 2, Pp 100273- (2024)
Academic Journal
Frontiers in Genetics, Vol 15 (2024)
Academic Journal
Trajkova, Slavica; Kerkhof, Jennifer; Rossi Sebastiano, Matteo; Pavinato, Lisa; Ferrero, Enza; Giovenino, Chiara; Carli, Diana; Di Gregorio, Eleonora; Marinoni, Roberta; Mandrile, Giorgia; Palermo, Flavia; Carestiato, Silvia; Cardaropoli, Simona; Pullano, Verdiana; Rinninella, Antonina; Giorgio, Elisa; Pippucci, Tommaso; Dimartino, Paola; Rzasa, Jessica; Rooney, Kathleen; McConkey, Haley; Petlichkovski, Aleksandar; Pasini, Barbara; Sukarova-Angelovska, Elena; Campbell, Christopher M.; Metcalfe, Kay; Jenkinson, Sarah; Banka, Siddharth; Mussa, Alessandro; Ferrero, Giovanni Battista; Sadikovic, Bekim; Brusco, Alfredo
In Human Genetics and Genomics Advances 18 July 2024 5(3)
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
Karayol, Remzi; Borroto, Maria Carla; Haghshenas, Sadegheh; Namasivayam, Anoja; Reilly, Jack; Levy, Michael A.; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Shvedunova, Maria; Petersen, Andrea K.; Magnussen, Kari; Zweier, Christiane; Vasileiou, Georgia; Reis, André; Savatt, Juliann M.; Mulligan, Meghan R.; Bicknell, Louise S.; Poke, Gemma; Abu-El-Haija, Aya; Duis, Jessica; Hannig, Vickie; Srivastava, Siddharth; Barkoudah, Elizabeth; Hauser, Natalie S.; van den Born, Myrthe; Hamiel, Uri; Henig, Noa; Baris Feldman, Hagit; McKee, Shane; Krapels, Ingrid P.C.; Lei, Yunping; Todorova, Albena; Yordanova, Ralitsa; Atemin, Slavena; Rogac, Mihael; McConnell, Vivienne; Chassevent, Anna; Barañano, Kristin W.; Shashi, Vandana; Sullivan, Jennifer A.; Peron, Angela; Iascone, Maria; Canevini, Maria P.; Friedman, Jennifer; Reyes, Iris A.; Kierstein, Janell; Shen, Joseph J.; Ahmed, Faria N.; Mao, Xiao; Almoguera, Berta; Blanco-Kelly, Fiona; Platzer, Konrad; Treu, Ariana-Berenike; Quilichini, Juliette; Bourgois, Alexia; Chatron, Nicolas; Januel, Louis; Rougeot, Christelle; Carere, Deanna Alexis; Monaghan, Kristin G.; Rousseau, Justine; Myers, Kenneth A.; Sadikovic, Bekim; Akhtar, Asifa; Campeau, Philippe M.
In The American Journal of Human Genetics 11 July 2024 111(7):1330-1351
Academic Journal
Kerkhof, Jennifer; Rastin, Cassandra; Levy, Michael A.; Relator, Raissa; McConkey, Haley; Demain, Leigh; Dominguez-Garrido, Elena; Kaat, Laura Donker; Houge, Sofia Douzgou; DuPont, Barbara R.; Fee, Timothy; Fletcher, Robin S.; Gokhale, David; Haukanes, Bjørn Ivar; Henneman, Peter; Hilton, Sarah; Hilton, Benjamin A.; Jenkinson, Sarah; Lee, Jennifer A.; Louie, Raymond J.; Motazacker, M. Mahdi; Rzasa, Jessica; Stevenson, Roger E.; Plomp, Astrid; van der Laan, Liselot; van der Smagt, Jasper; Walden, Kellie K.; Banka, Siddharth; Mannens, Marcel; Skinner, Steven A.; Friez, Michael J.; Campbell, Christopher; Tedder, Matthew L.; Alders, Marielle; Sadikovic, Bekim
In Genetics in Medicine May 2024 26(5)
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