학술논문
'학술논문'
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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
Rooney, Kathleen; van der Laan, Liselot; Trajkova, Slavica; Haghshenas, Sadegheh; Relator, Raissa; Lauffer, Peter; Vos, Niels; Levy, Michael A.; Brunetti-Pierri, Nicola; Terrone, Gaetano; Mignot, Cyril; Keren, Boris; de Villemeur, Thierry B.; Volker-Touw, Catharina M.L.; Verbeek, Nienke; van der Smagt, Jasper J.; Oegema, Renske; Brusco, Alfredo; Ferrero, Giovanni B.; Misra-Isrie, Mala; Hochstenbach, Ron; Alders, Mariëlle; Mannens, Marcel M.A.M.; Sadikovic, Bekim; van Haelst, Mieke M.; Henneman, Peter
In Genetics in Medicine August 2023 25(8)
Academic Journal
Mattison, Kari; Tossing, Gilles; Mulroe, Fred; Simmons, Callum; Butler, Kameryn; Schreiber, Alison; Alsadah, Adnan; Neilson, Derek; Naess, Karin; Wedell, Anna; Wredenberg, Anna; Sorlin, Arthur; McCann, Emma; Burghel, George; Menendez, Beatriz; Hoganson, George; Botto, Lorenzo; Filloux, Francis; Aledo-Serrano, Ángel; Gil-Nagel, Antonio; Tatton-Brown, Katrina; Verbeek, Nienke; van der Zwaag, Bert; Aleck, Kyrieckos; Fazenbaker, Andrew; Balciuniene, Jorune; Dubbs, Holly; Marsh, Eric; Garber, Kathryn; Ek, Jakob; Duno, Morten; Hoei-Hansen, Christina; Deardorff, Matthew; Raca, Gordana; Quindipan, Catherine; van Hirtum-Das, Michele; Breckpot, Jeroen; Hammer, Trine; Møller, Rikke; Whitney, Andrea; Douglas, Andrew; Kharbanda, Mira; Brunetti-Pierri, Nicola; Morleo, Manuela; Nigro, Vincenzo; May, Halie; Tao, James; Sherr, Elliot; Dobyns, William; Baines, Richard; Warwicker, Jim; Parker, J; Banka, Siddharth; Campeau, Philippe; Escayg, Andrew; Argilli, Emanuela
Brain: a journal of neurology. 146(4)
Academic Journal
Verbeek, Nienke; Kasteleijn-Nolst Trenité, Dorothée; Wassenaar, Merel; van Campen, Jolien; Sonsma, Anja; Gunning, W. Boudewijn; de Weerd, Al; Knoers, Nine; Spetgens, Willy; Gutter, Thea; Leijten, Frans; Brilstra, Eva
In Clinical Neurophysiology February 2017 128(2):323-330
Periodical
van Jaarsveld, Richard H.; Reilly, Jack; Cornips, Marie-Claire; Hadders, Michael A.; Agolini, Emanuele; Ahimaz, Priyanka; Anyane-Yeboa, Kwame; Bellanger, Severine Audebert; van Binsbergen, Ellen; van den Boogaard, Marie-Jose; Brischoux-Boucher, Elise; Caylor, Raymond C.; Ciolfi, Andrea; van Essen, Ton A.J.; Fontana, Paolo; Hopman, Saskia; Iascone, Maria; Javier, Margaret M.; Kamsteeg, Erik-Jan; Kerkhof, Jennifer; Kido, Jun; Kim, Hyung-Goo; Kleefstra, Tjitske; Lonardo, Fortunato; Lai, Abbe; Lev, Dorit; Levy, Michael A.; Lewis, M.E. Suzanne; Lichty, Angie; Mannens, Marcel M.A.M.; Matsumoto, Naomichi; Maya, Idit; McConkey, Haley; Megarbane, Andre; Michaud, Vincent; Miele, Evelina; Niceta, Marcello; Novelli, Antonio; Onesimo, Roberta; Pfundt, Rolph; Popp, Bernt; Prijoles, Eloise; Relator, Raissa; Redon, Sylvia; Rots, Dmitrijs; Rouault, Karen; Saida, Ken; Schieving, Jolanda; Tartaglia, Marco; Tenconi, Romano; Uguen, Kevin; Verbeek, Nienke; Walsh, Christopher A.; Yosovich, Keren; Yuskaitis, Christopher J.; Zampino, Giuseppe; Sadikovic, Bekim; Alders, Mariëlle; Oegema, Renske
Genetics in Medicine; January 2023, Vol. 25 Issue: 1 p49-62, 14p
Academic Journal
Bonardi, Claudia M; Heyne, Henrike O; Fiannacca, Martina; Fitzgerald, Mark P; Gardella, Elena; Gunning, Boudewijn; Olofsson, Kern; Lesca, Gaétan; Verbeek, Nienke; Stamberger, Hannah; Striano, Pasquale; Zara, Federico; Mancardi, Maria M; Nava, Caroline; Syrbe, Steffen; Buono, Salvatore; Baulac, Stephanie; Coppola, Antonietta; Weckhuysen, Sarah; Schoonjans, An-Sofie
Academic Journal
Tessadori, Federico; Duran, Karen; Knapp, Karen; Fellner, Matthias; Smithson, Sarah; Beleza Meireles, Ana; Elting, Mariet W.; Waisfisz, Quinten; O'Donnell-Luria, Anne; Nowak, Catherine; Douglas, Jessica; Ronan, Anne; Brunet, Theresa; Kotzaeridou, Urania; Svihovec, Shayna; Saenz, Margarita S.; Thiffault, Isabelle; Del Viso, Florencia; Devine, Patrick; Rego, Shannon; Tenney, Jessica; van Haeringen, Arie; Ruivenkamp, Claudia A.L.; Koene, Saskia; Robertson, Stephen P.; Deshpande, Charulata; Pfundt, Rolph; Verbeek, Nienke; van de Kamp, Jiddeke M.; Weiss, Janneke M.M.; Ruiz, Anna; Gabau, Elisabeth; Banne, Ehud; Pepler, Alexander; Bottani, Armand; Laurent, Sacha; Guipponi, Michel; Bijlsma, Emilia; Bruel, Ange-Line; Sorlin, Arthur; Willis, Mary; Powis, Zoe; Smol, Thomas; Vincent-Delorme, Catherine; Baralle, Diana; Colin, Estelle; Revencu, Nicole; Calpena, Eduardo; Wilkie, Andrew O.M.; Chopra, Maya; Cormier-Daire, Valerie; Keren, Boris; Afenjar, Alexandra; Niceta, Marcello; Terracciano, Alessandra; Specchio, Nicola; Tartaglia, Marco; Rio, Marlene; Barcia, Giulia; Rondeau, Sophie; Colson, Cindy; Bakkers, Jeroen; Mace, Peter D.; Bicknell, Louise S.; van Haaften, Gijs
American Journal of Human Genetics. April 7, 2022, Vol. 109 Issue 4, 750
Academic Journal
Mirzaa, Ghayda M; Parry, David A; Fry, Andrew E; Giamanco, Kristin A; Schwartzentruber, Jeremy; Vanstone, Megan; Logan, Clare V; Roberts, Nicola; Johnson, Colin A; Singh, Shawn; Kholmanskikh, Stanislav S; Adams, Carissa; Hodge, Rebecca D; Hevner, Robert F; Bonthron, David T; Braun, Kees PJ; Faivre, Laurence; Rivière, Jean-Baptiste; St-Onge, Judith; Gripp, Karen W; Mancini, Grazia MS; Pang, Ki; Sweeney, Elizabeth; van Esch, Hilde; Verbeek, Nienke; Wieczorek, Dagmar; Steinraths, Michelle; Majewski, Jacek; Boycott, Kym M; Pilz, Daniela T; Ross, M Elizabeth; Dobyns, William B; Sheridan, Eamonn G
Nature Genetics. 46(5)
Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield
Periodical
van der Sanden, Bart P.G.H.; Corominas, Jordi; de Groot, Michelle; Pennings, Maartje; Meijer, Rowdy P.P.; Verbeek, Nienke; van de Warrenburg, Bart; Schouten, Meyke; Yntema, Helger G.; Vissers, Lisenka E. L.M.; Kamsteeg, Erik-Jan; Gilissen, Christian
Genetics in Medicine; August 2021, Vol. 23 Issue: 8 p1569-1573, 5p
Academic Journal
Fitzgerald, Mark P.; Fiannacca, Martina; Smith, Douglas M.; Gertler, Tracy S.; Gunning, Boudewijn; Syrbe, Steffen; Verbeek, Nienke; Stamberger, Hannah; Weckhuysen, Sarah; Ceulemans, Berten; Schoonjans, An-Sofie; Rossi, Massimiliano; Demarquay, Geneviève; Lesca, Gaetan; Olofsson, Kern; Koolen, D. A.; Hornemann, Frauke; Baulac, Stephanie; Rubboli, Guido; Minks, Kelly Q.
Neurotherapeutics; Jul2019, Vol. 16 Issue 3, p848-857, 10p
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