학술논문
'학술논문'
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1~10
Academic Journal
Ansari, Morad; Faour, Kamli N.W.; Shimamura, Akiko; Grimes, Graeme; Kao, Emeline M.; Denhoff, Erica R.; Blatnik, Ana; Ben-Isvy, Daniel; Wang, Lily; Helm, Benjamin M.; Firth, Helen; Breman, Amy M.; Bijlsma, Emilia K.; Iwata-Otsubo, Aiko; de Ravel, Thomy J.L.; Fusaro, Vincent; Fryer, Alan; Nykamp, Keith; Stühn, Lara G.; Haack, Tobias B.; Korenke, G. Christoph; Constantinou, Panayiotis; Bujakowska, Kinga M.; Low, Karen J.; Place, Emily; Humberson, Jennifer; Napier, Melanie P.; Hoffman, Jessica; Juusola, Jane; Deardorff, Matthew A.; Shao, Wanqing; Rockowitz, Shira; Krantz, Ian; Kaur, Maninder; Raible, Sarah; Dortenzio, Victoria; Kliesch, Sabine; Singer-Berk, Moriel; Groopman, Emily; DiTroia, Stephanie; Ballal, Sonia; Srivastava, Siddharth; Rothfelder, Kathrin; Biskup, Saskia; Rzasa, Jessica; Kerkhof, Jennifer; McConkey, Haley; Sadikovic, Bekim; Hilton, Sarah; Banka, Siddharth; Tüttelmann, Frank; Conrad, Donald F.; O’Donnell-Luria, Anne; Talkowski, Michael E.; FitzPatrick, David R.; Boone, Philip M.
In Human Genetics and Genomics Advances 11 April 2024 5(2)
Academic Journal
Agrawal, Pankaj; Armstrong Scott, Daryl; Barkoudah, Elizabeth; Bellini, Melissa; Beneteau, Claire; Bjørgo, Kathrine; Brooks, Alice; Brown, Natasha; Castle, Alison; Castro, Diana; Chorin, Odelia; Cleghorn, Mark; Clement, Emma; Coman, David; Costin, Carrie; Devriendt, Koen; Dong, Dexin; Dries, Annika; Duelund Hjortshøj, Tina; Dyment, David; Eng, Christine; Genetti, Casie; Grano, Siera; Henneman, Peter; Heron, Delphine; Hoffmann, Katrin; Hom, Jason; Du, Haowei; Iascone, Maria; Isidor, Bertrand; Järvelä, Irma E.; Jones, Julie; Keren, Boris; Koenig, Mary Kay; Kohlhase, Jürgen; Lalani, Seema; Le Caignec, Cedric; Lewis, Andi; Liu, Pengfei; Lovgren, Alysia; Lupski, James R.; Lyons, Mike; Lysy, Philippe; Manning, Melanie; Marcelis, Carlo; McLean, Scott Douglas; Mercie, Sandra; Mertens, Mareike; Molin, Arnaud; Nizon, Mathilde; Nugent, Kimberly Margaret; Öhman, Susanna; O'Leary, Melanie; Okashah Littlejohn, Rebecca; Petit, Florence; Pfundt, Rolph; Pottocki, Lorraine; Raas-Rotschild, Annick; Ranguin, Kara; Revencu, Nicole; Rosenfeld, Jill; Rhodes, Lindsay; Santos Simmaro, Fernando; Sals, Karen; Schieving, Jolanda; Schrauwen, Isabelle; Schuurs-Hoeijmakers, Janneke H.M.; Seaby, Eleanor G.; Sheffer, Ruth; Snijders Blok, Lot; Sørensen, Kristina P.; Srivastava, Siddharth; Stark, Zornitza; Stoeva, Radka; Stutterd, Chloe; Tan, Natalie B.; Mathiesen Torring, Pernille; Vanakker, Olivier; van der Laan, Liselot; Ververi, Athina; Villavicencio-Lorini, Pablo; Vincent, Marie; Wand, Dorothea; Wessels, Marja; White, Sue; Wojcik, Monica H.; Wu, Nan; Zhao, Sen; Pérez Baca, María del Rocío; Jacobs, Eva Z.; Vantomme, Lies; Leblanc, Pontus; Bogaert, Elke; Dheedene, Annelies; De Cock, Laurenz; Haghshenas, Sadegheh; Foroutan, Aidin; Levy, Michael A.; Kerkhof, Jennifer; McConkey, Haley; Chen, Chun-An; Batzir, Nurit Assia; Wang, Xia; Palomares, María; Carels, Marieke; Dermaut, Bart; Sadikovic, Bekim; Menten, Björn; Yuan, Bo; Vergult, Sarah; Callewaert, Bert
In The American Journal of Human Genetics 7 March 2024 111(3):509-528
Academic Journal
van der Laan, Liselot; Karimi, Karim; Rooney, Kathleen; Lauffer, Peter; McConkey, Haley; Caro, Pilar; Relator, Raissa; Levy, Michael A.; Bhai, Pratibha; Mignot, Cyril; Keren, Boris; Briuglia, Silvana; Sobering, Andrew K.; Li, Dong; Vissers, Lisenka E.L.M.; Dingemans, Alexander J.M.; Valenzuela, Irene; Verberne, Eline A.; Misra-Isrie, Mala; Zwijnenburg, Petra J.G.; Waisfisz, Quinten; Alders, Mariëlle; Sailer, Sebastian; Schaaf, Christian P.; Mannens, Marcel M.A.M.; Sadikovic, Bekim; van Haelst, Mieke M.; Henneman, Peter
In Genetics in Medicine March 2024 26(3)
Academic Journal
Karimi, Karim; Mol, Merel O.; Haghshenas, Sadegheh; Relator, Raissa; Levy, Michael A.; Kerkhof, Jennifer; McConkey, Haley; Brooks, Alice; Zonneveld-Huijssoon, Evelien; Gerkes, Erica H.; Tedder, Matthew L.; Vissers, Lisenka; Salzano, Emanuela; Piccione, Maria; Asaftei, Sebastian Dorin; Carli, Diana; Mussa, Alessandro; Shukarova-Angelovska, Elena; Trajkova, Slavica; Brusco, Alfredo; Merla, Giuseppe; Alders, Marielle M.; Bouman, Arjan; Sadikovic, Bekim
In Genetics in Medicine March 2024 26(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
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)
Academic Journal
Sabbagh, Quentin; Haghshenas, Sadegheh; Piard, Juliette; Trouvé, Chloé; Amiel, Jeanne; Attié-Bitach, Tania; Balci, Tugce; Barat-Houari, Mouna; Belonis, Alyce; Boute, Odile; Brightman, Diana S.; Bruel, Ange-Line; Caraffi, Stefano Giuseppe; Chatron, Nicolas; Collet, Corinne; Dufour, William; Edery, Patrick; Fong, Chin-To; Fusco, Carlo; Gatinois, Vincent; Gouy, Evan; Guerrot, Anne-Marie; Heide, Solveig; Joshi, Aakash; Karp, Natalya; Keren, Boris; Lesieur-Sebellin, Marion; Levy, Jonathan; Levy, Michael A.; Lozano, Claire; Lyonnet, Stanislas; Margot, Henri; Marzin, Pauline; McConkey, Haley; Michaud, Vincent; Nicolas, Gaël; Nizard, Mevyn; Paulet, Alix; Peluso, Francesca; Pernin, Vincent; Perrin, Laurence; Philippe, Christophe; Prasad, Chitra; Prasad, Madhavi; Relator, Raissa; Rio, Marlène; Rondeau, Sophie; Ruault, Valentin; Ruiz-Pallares, Nathalie; Sanchez, Elodie; Shears, Debbie; Siu, Victoria Mok; Sorlin, Arthur; Tedder, Matthew; Tharreau, Mylène; Mau-Them, Frédéric Tran; van der Laan, Liselot; Van Gils, Julien; Verloes, Alain; Whalen, Sandra; Willems, Marjolaine; Yauy, Kévin; Zuntini, Roberta; Kerkhof, Jennifer; Sadikovic, Bekim; Geneviève, David
In Genetics in Medicine January 2024 26(1)
Academic Journal
Pagliara, Daria; Ciolfi, Andrea; Pedace, Lucia; Haghshenas, Sadegheh; Ferilli, Marco; Levy, Michael A.; Miele, Evelina; Nardini, Claudia; Cappelletti, Camilla; Relator, Raissa; Pitisci, Angela; De Vito, Rita; Pizzi, Simone; Kerkhof, Jennifer; McConkey, Haley; Nazio, Francesca; Kant, Sarina G.; Di Donato, Maddalena; Agolini, Emanuele; Matraxia, Marta; Pasini, Barbara; Pelle, Alessandra; Galluccio, Tiziana; Novelli, Antonio; Barakat, Tahsin Stefan; Andreani, Marco; Rossi, Francesca; Mecucci, Cristina; Savoia, Anna; Sadikovic, Bekim; Locatelli, Franco; Tartaglia, Marco
In The American Journal of Human Genetics 2 November 2023 110(11):1938-1949
Academic Journal
Bogaert, Elke; Garde, Aurore; Gautier, Thierry; Rooney, Kathleen; Duffourd, Yannis; LeBlanc, Pontus; van Reempts, Emma; Tran Mau-Them, Frederic; Wentzensen, Ingrid M.; Au, Kit Sing; Richardson, Kate; Northrup, Hope; Gatinois, Vincent; Geneviève, David; Louie, Raymond J.; Lyons, Michael J.; Laulund, Lone Walentin; Brasch-Andersen, Charlotte; Maxel Juul, Trine; El It, Fatima; Marle, Nathalie; Callier, Patrick; Relator, Raissa; Haghshenas, Sadegheh; McConkey, Haley; Kerkhof, Jennifer; Cesario, Claudia; Novelli, Antonio; Brunetti-Pierri, Nicola; Pinelli, Michele; Pennamen, Perrine; Naudion, Sophie; Legendre, Marine; Courdier, Cécile; Trimouille, Aurelien; Fenzy, Martine Doco; Pais, Lynn; Yeung, Alison; Nugent, Kimberly; Roeder, Elizabeth R.; Mitani, Tadahiro; Posey, Jennifer E.; Calame, Daniel; Yonath, Hagith; Rosenfeld, Jill A.; Musante, Luciana; Faletra, Flavio; Montanari, Francesca; Sartor, Giovanna; Vancini, Alessandra; Seri, Marco; Besmond, Claude; Poirier, Karine; Hubert, Laurence; Hemelsoet, Dimitri; Munnich, Arnold; Lupski, James R.; Philippe, Christophe; Thauvin-Robinet, Christel; Faivre, Laurence; Sadikovic, Bekim; Govin, Jérôme; Dermaut, Bart; Vitobello, Antonio
In The American Journal of Human Genetics 4 May 2023 110(5):790-808
Academic Journal
Schreyer, Leighton; Reilly, Jack; McConkey, Haley; Kerkhof, Jennifer; Levy, Michael A.; Hu, Jonathan; Hnaini, Mona; Sadikovic, Bekim; Campbell, Craig
In Neuromuscular Disorders January 2023 33(1):5-14
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