학술논문
'학술논문'
에서 검색결과 28건 | 목록
1~10
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
Snijders Blok, Lot; Verseput, Jolijn; Rots, Dmitrijs; Venselaar, Hanka; Innes, A. Micheil; Stumpel, Connie; Õunap, Katrin; Reinson, Karit; Seaby, Eleanor G.; McKee, Shane; Burton, Barbara; Kim, Katherine; van Hagen, Johanna M.; Waisfisz, Quinten; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Li, Dong; Zackai, Elaine H.; Sheppard, Sarah E.; Keena, Beth; Hakonarson, Hakon; Roos, Andreas; Kohlschmidt, Nicolai; Cereda, Anna; Iascone, Maria; Rebessi, Erika; Kernohan, Kristin D.; Campeau, Philippe M.; Millan, Francisca; Taylor, Jesse A.; Lochmüller, Hanns; Higgs, Martin R.; Goula, Amalia; Bernhard, Birgitta; Velasco, Danita J.; Schmanski, Andrew A.; Stark, Zornitza; Gallacher, Lyndon; Pais, Lynn; Marcogliese, Paul C.; Yamamoto, Shinya; Raun, Nicholas; Jakub, Taryn E.; Kramer, Jamie M.; den Hoed, Joery; Fisher, Simon E.; Brunner, Han G.; Kleefstra, Tjitske
In Human Genetics and Genomics Advances 12 January 2023 4(1)
Academic Journal
Snijders Blok, Lot; Goosen, Y. Max; van Haaften, Leenke; van Hulst, Karen; Fisher, Simon E.; Brunner, Han G.; Egger, Jos I. M.; Kleefstra, Tjitske
Academic Journal
den Hoed, Joery; de Boer, Elke; Voisin, Norine; Dingemans, Alexander; Guex, Nicolas; Wiel, Laurens; Nellaker, Christoffer; Amudhavalli, Shivarajan; Banka, Siddharth; Bena, Frederique; Ben-Zeev, Bruria; Bonagura, Vincent; Bruel, Ange-Line; Brunet, Theresa; Brunner, Han; Chew, Hui; Chrast, Jacqueline; Cimbalistienė, Loreta; Coon, Hilary; Délot, Emmanuèlle; Démurger, Florence; Denommé-Pichon, Anne-Sophie; Depienne, Christel; Donnai, Dian; Dyment, David; Elpeleg, Orly; Faivre, Laurence; Gilissen, Christian; Granger, Leslie; Haber, Benjamin; Hachiya, Yasuo; Abedi, Yasmin; Hanebeck, Jennifer; Hehir-Kwa, Jayne; Horist, Brooke; Itai, Toshiyuki; Jackson, Adam; Jewell, Rosalyn; Jones, Kelly; Joss, Shelagh; Kashii, Hirofumi; Kato, Mitsuhiro; Kattentidt-Mouravieva, Anja; Kok, Fernando; Kotzaeridou, Urania; Krishnamurthy, Vidya; Kučinskas, Vaidutis; Kuechler, Alma; Lavillaureix, Alinoë; Liu, Pengfei; Manwaring, Linda; Matsumoto, Naomichi; Mazel, Benoît; McWalter, Kirsty; Meiner, Vardiella; Mikati, Mohamad; Miyatake, Satoko; Mizuguchi, Takeshi; Moey, Lip; Mohammed, Shehla; Mor-Shaked, Hagar; Mountford, Hayley; Newbury-Ecob, Ruth; Odent, Sylvie; Orec, Laura; Osmond, Matthew; Palculict, Timothy; Parker, Michael; Petersen, Andrea; Pfundt, Rolph; Preikšaitienė, Eglė; Radtke, Kelly; Ranza, Emmanuelle; Rosenfeld, Jill; Santiago-Sim, Teresa; Schwager, Caitlin; Sinnema, Margje; Snijders Blok, Lot; Spillmann, Rebecca; Stegmann, Alexander; Thiffault, Isabelle; Tran, Linh; Vaknin-Dembinsky, Adi; Vedovato-Dos-Santos, Juliana; Schrier Vergano, Samantha; Vilain, Eric; Vitobello, Antonio; Wagner, Matias; Waheeb, Androu; Willing, Marcia; Zuccarelli, Britton; Kini, Usha; Newbury, Dianne; Kleefstra, Tjitske; Reymond, Alexandre; Fisher, Simon; Vissers, Lisenka
American Journal of Human Genetics. 108(2)
Academic Journal
Mensah, Martin A.; Niskanen, Henri; Magalhaes, Alexandre P.; Basu, Shaon; Kircher, Martin; Sczakiel, Henrike L.; Reiter, Alisa M. V.; Elsner, Jonas; Meinecke, Peter; Biskup, Saskia; Chung, Brian H. Y.; Dombrowsky, Gregor; Eckmann-Scholz, Christel; Hitz, Marc Phillip; Hoischen, Alexander; Holterhus, Paul-Martin; Hülsemann, Wiebke; Kahrizi, Kimia; Kalscheuer, Vera M.; Kan, Anita; Krumbiegel, Mandy; Kurth, Ingo; Leubner, Jonas; Longardt, Ann Carolin; Moritz, Jörg D.; Najmabadi, Hossein; Skipalova, Karolina; Snijders Blok, Lot; Tzschach, Andreas; Wiedersberg, Eberhard; Zenker, Martin; Garcia-Cabau, Carla; Buschow, René; Salvatella, Xavier; Kraushar, Matthew L.; Mundlos, Stefan; Caliebe, Almuth; Spielmann, Malte; Horn, Denise; Hnisz, Denes
Nature: International weekly journal of science. 614(7948):564-571
Periodical
van der Spek, Jet; den Hoed, Joery; Snijders Blok, Lot; Dingemans, Alexander J.M.; Schijven, Dick; Nellaker, Christoffer; Venselaar, Hanka; Astuti, Galuh D.N.; Barakat, Tahsin Stefan; Bebin, E. Martina; Beck-Wödl, Stefanie; Beunders, Gea; Brown, Natasha J.; Brunet, Theresa; Brunner, Han G.; Campeau, Philippe M.; Čuturilo, Goran; Gilissen, Christian; Haack, Tobias B.; Hüning, Irina; Husain, Ralf A.; Kamien, Benjamin; Lim, Sze Chern; Lovrecic, Luca; Magg, Janine; Maver, Ales; Miranda, Valancy; Monteil, Danielle C.; Ockeloen, Charlotte W.; Pais, Lynn S.; Plaiasu, Vasilica; Raiti, Laura; Richmond, Christopher; Rieß, Angelika; Schwaibold, Eva M.C.; Simon, Marleen E.H.; Spranger, Stephanie; Tan, Tiong Yang; Thompson, Michelle L.; de Vries, Bert B.A.; Wilkins, Ella J.; Willemsen, Marjolein H.; Francks, Clyde; Vissers, Lisenka E.L.M.; Fisher, Simon E.; Kleefstra, Tjitske
Genetics in Medicine; June 2022, Vol. 24 Issue: 6 p1283-1296, 14p
Academic Journal
Snijders Blok, Lot; Hiatt, Susan M.; Bowling, Kevin M.; Prokop, Jeremy W.; Engel, Krysta L.; Cochran, J. Nicholas; Bebin, E. Martina
Human Genetics. May 2018, Vol. 137 Issue 5, p375, 14 p.
Academic Journal
Snijders Blok, Lot; Kleefstra, Tjitske; Venselaar, Hanka; Maas, Saskia; Kroes, Hester Y.; Lachmeijer, Augusta M.A.; van Gassen, Koen L.I.; Firth, Helen V.; Tomkins, Susan; Bodek, Simon; Õunap, Katrin; Wojcik, Monica H.; Cunniff, Christopher; Bergstrom, Katherine; Powis, Zoë; Tang, Sha; Shinde, Deepali N.; Au, Catherine; Iglesias, Alejandro D.; Izumi, Kosuke
Academic Journal
Snijders Blok, Lot; Vino, Arianna; den Hoed, Joery; Underhill, Hunter R.; Monteil, Danielle; Li, Hong; Reynoso Santos, Francis Jeshira; Chung, Wendy K.; Amaral, Michelle D.; Schnur, Rhonda E.; Santiago-Sim, Teresa; Si, Yue; Brunner, Han G.; Kleefstra, Tjitske; Fisher, Simon E.
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(3):534-542
Academic Journal
Drivas, Theodore G.; Li, Dong; Nair, Divya; Alaimo, Joseph T.; Alders, Mariëlle; Altmüller, Janine; Barakat, Tahsin Stefan; Bebin, E. Martina; Bertsch, Nicole L.; Blackburn, Patrick R.; Blesson, Alyssa; Bouman, Arjan M.; Brockmann, Knut; Brunelle, Perrine; Burmeister, Margit; Cooper, Gregory M.; Denecke, Jonas; Dieux-Coëslier, Anne; Dubbs, Holly; Ferrer, Alejandro; Gal, Danna; Bartik, Lauren E.; Gunderson, Lauren B.; Hasadsri, Linda; Jain, Mahim; Karimov, Catherine; Keena, Beth; Klee, Eric W.; Kloth, Katja; Lace, Baiba; Macchiaiolo, Marina; Marcadier, Julien L.; Milunsky, Jeff M.; Napier, Melanie P.; Ortiz-Gonzalez, Xilma R.; Pichurin, Pavel N.; Pinner, Jason; Powis, Zoe; Prasad, Chitra; Radio, Francesca Clementina; Rasmussen, Kristen J.; Renaud, Deborah L.; Rush, Eric T.; Saunders, Carol; Selcen, Duygu; Seman, Ann R.; Shinde, Deepali N.; Smith, Erica D.; Smol, Thomas; Snijders Blok, Lot; Stoler, Joan M.; Tang, Sha; Tartaglia, Marco; Thompson, Michelle L.; van de Kamp, Jiddeke M.; Wang, Jingmin; Weise, Dagmar; Weiss, Karin; Woitschach, Rixa; Wollnik, Bernd; Yan, Huifang; Zackai, Elaine H.; Zampino, Giuseppe; Campeau, Philippe; Bhoj, Elizabeth
European Journal of Human Genetics. 28(10):1422-1431
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