학술논문
'학술논문'
에서 검색결과 403건 | 목록
1~10
Academic Journal
Lemire, Gabrielle; Sanchis-Juan, Alba; Russell, Kathryn; Baxter, Samantha; Chao, Katherine R.; Singer-Berk, Moriel; Groopman, Emily; Wong, Isaac; England, Eleina; Goodrich, Julia; Pais, Lynn; Austin-Tse, Christina; DiTroia, Stephanie; O’Heir, Emily; Ganesh, Vijay S.; Wojcik, Monica H.; Evangelista, Emily; Snow, Hana; Osei-Owusu, Ikeoluwa; Fu, Jack; Singh, Mugdha; Mostovoy, Yulia; Huang, Steve; Garimella, Kiran; Kirkham, Samantha L.; Neil, Jennifer E.; Shao, Diane D.; Walsh, Christopher A.; Argilli, Emanuela; Le, Carolyn; Sherr, Elliott H.; Gleeson, Joseph G.; Shril, Shirlee; Schneider, Ronen; Hildebrandt, Friedhelm; Sankaran, Vijay G.; Madden, Jill A.; Genetti, Casie A.; Beggs, Alan H.; Agrawal, Pankaj B.; Bujakowska, Kinga M.; Place, Emily; Pierce, Eric A.; Donkervoort, Sandra; Bönnemann, Carsten G.; Gallacher, Lyndon; Stark, Zornitza; Tan, Tiong Yang; White, Susan M.; Töpf, Ana; Straub, Volker; Fleming, Mark D.; Pollak, Martin R.; Õunap, Katrin; Pajusalu, Sander; Donald, Kirsten A.; Bruwer, Zandre; Ravenscroft, Gianina; Laing, Nigel G.; MacArthur, Daniel G.; Rehm, Heidi L.; Talkowski, Michael E.; Brand, Harrison; O’Donnell-Luria, Anne
In The American Journal of Human Genetics 2 May 2024 111(5):863-876
Academic Journal
Zech, Michael; Jech, Robert; Boesch, Sylvia; Škorvánek, Matej; Weber, Sandrina; Wagner, Matias; Zhao, Chen; Jochim, Angela; Necpál, Ján; Dincer, Yasemin; Vill, Katharina; Distelmaier, Felix; Stoklosa, Malgorzata; Krenn, Martin; Grunwald, Stephan; Bock-Bierbaum, Tobias; Fečíková, Anna; Havránková, Petra; Roth, Jan; Příhodová, Iva; Adamovičová, Miriam; Ulmanová, Olga; Bechyně, Karel; Danhofer, Pavlína; Veselý, Branislav; Haň, Vladimír; Pavelekova, Petra; Gdovinová, Zuzana; Mantel, Tobias; Meindl, Tobias; Sitzberger, Alexandra; Schröder, Sebastian; Blaschek, Astrid; Roser, Timo; Bonfert, Michaela V; Haberlandt, Edda; Plecko, Barbara; Leineweber, Birgit; Berweck, Steffen; Herberhold, Thomas; Langguth, Berthold; Švantnerová, Jana; Minár, Michal; Ramos-Rivera, Gonzalo Alonso; Wojcik, Monica H; Pajusalu, Sander; Õunap, Katrin; Schatz, Ulrich A; Pölsler, Laura; Milenkovic, Ivan; Laccone, Franco; Pilshofer, Veronika; Colombo, Roberto; Patzer, Steffi; Iuso, Arcangela; Vera, Julia; Troncoso, Monica; Fang, Fang; Prokisch, Holger; Wilbert, Friederike; Eckenweiler, Matthias; Graf, Elisabeth; Westphal, Dominik S; Riedhammer, Korbinian M; Brunet, Theresa; Alhaddad, Bader; Berutti, Riccardo; Strom, Tim M; Hecht, Martin; Baumann, Matthias; Wolf, Marc; Telegrafi, Aida; Person, Richard E; Zamora, Francisca Millan; Henderson, Lindsay B; Weise, David; Musacchio, Thomas; Volkmann, Jens; Szuto, Anna; Becker, Jessica; Cremer, Kirsten; Sycha, Thomas; Zimprich, Fritz; Kraus, Verena; Makowski, Christine; Gonzalez-Alegre, Pedro; Bardakjian, Tanya M; Ozelius, Laurie J; Vetro, Annalisa; Guerrini, Renzo; Maier, Esther; Borggraefe, Ingo; Kuster, Alice; Wortmann, Saskia B; Hackenberg, Annette; Steinfeld, Robert; Assmann, Birgit; Staufner, Christian; Opladen, Thomas; Růžička, Evžen; Cohn, Ronald D; Dyment, David; Chung, Wendy K; Engels, Hartmut; Ceballos-Baumann, Andres; Ploski, Rafal; Daumke, Oliver; Haslinger, Bernhard; Mall, Volker; Oexle, Konrad; Winkelmann, Juliane
In The Lancet Neurology November 2020 19(11):908-918
Academic Journal
Õunap, Katrin; Muru, Kai; Õiglane-Shlik, Eve; Ilves, Pilvi; Pajusalu, Sander; Kuus, Imbi; Wojcik, Monica H.; Reimand, Tiia
In European Journal of Medical Genetics February 2020 63(2)
Academic Journal
Reinson, Karit; Kovacs-Nagy, Reka; Õiglane-Shlik, Eve; Pajusalu, Sander; Nõukas, Margit; Wintjes, Liesbeth T.; van den Brandt, Frans C.A.; Brink, Maaike; Acker, Till; Ahting, Uwe; Hahn, Andreas; Schänzer, Anne; Haack, Tobias B.; Rodenburg, Richard J.; Õunap, Katrin
In European Journal of Medical Genetics November 2019 62(11)
Academic Journal
Roht, Laura; Laidre, Piret; Tooming, Mikk; Tõnisson, Neeme; Nõukas, Margit; Nurm, Miriam; Roomere, Hanno; Rekker, Kadri; Toome, Kadri; Fjodorova, Olga; Murumets, Ülle; Šamarina, Ustina; Pajusalu, Sander; Aaspõllu, Anu; Salumäe, Liis; Muhu, Kristina; Soplepmann, Jaan; Õunap, Katrin; Kahre, Tiina
Academic Journal
Flex, Elisabetta; Martinelli, Simone; Van Dijck, Anke; Ciolfi, Andrea; Cecchetti, Serena; Coluzzi, Elisa; Pannone, Luca; Andreoli, Cristina; Radio, Francesca Clementina; Pizzi, Simone; Carpentieri, Giovanna; Bruselles, Alessandro; Catanzaro, Giuseppina; Pedace, Lucia; Miele, Evelina; Carcarino, Elena; Ge, Xiaoyan; Chijiwa, Chieko; Lewis, M.E. Suzanne; Meuwissen, Marije; Kenis, Sandra; Van der Aa, Nathalie; Larson, Austin; Brown, Kathleen; Wasserstein, Melissa P.; Skotko, Brian G.; Begtrup, Amber; Person, Richard; Karayiorgou, Maria; Roos, J. Louw; Van Gassen, Koen L.; Koopmans, Marije; Bijlsma, Emilia K.; Santen, Gijs W.E.; Barge-Schaapveld, Daniela Q.C.M.; Ruivenkamp, Claudia A.L.; Hoffer, Mariette J.V.; Lalani, Seema R.; Streff, Haley; Craigen, William J.; Graham, Brett H.; van den Elzen, Annette P.M.; Kamphuis, Daan J.; Õunap, Katrin; Reinson, Karit; Pajusalu, Sander; Wojcik, Monica H.; Viberti, Clara; Di Gaetano, Cornelia; Bertini, Enrico; Petrucci, Simona; De Luca, Alessandro; Rota, Rossella; Ferretti, Elisabetta; Matullo, Giuseppe; Dallapiccola, Bruno; Sgura, Antonella; Walkiewicz, Magdalena; Kooy, R. Frank; Tartaglia, Marco
In The American Journal of Human Genetics 5 September 2019 105(3):493-508
Academic Journal
Rots, Dmitrijs; Rooney, Kathleen; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Pfundt, Rolph; Marcelis, Carlo; Willemsen, Marjolein H.; van Hagen, Johanna M.; Zwijnenburg, Petra; Alders, Marielle; Õunap, Katrin; Reimand, Tiia; Fjodorova, Olga; Berland, Siren; Liahjell, Eva Benedicte; Bojovic, Ognjen; Kriek, Marjolein; Ruivenkamp, Claudia; Bonati, Maria Teresa
Academic Journal
Leffler, Melanie; Puusepp, Sanna; Žilina, Olga; Zhu, Ying; Kuuse, Kati; Bain, Nicole; Burgess, Trent; Õunap, Katrin; Field, Michael
In European Journal of Medical Genetics April 2016 59(4):257-262
Academic Journal
Pajusalu, Sander; Reimand, Tiia; Uibo, Oivi; Vasar, Maire; Talvik, Inga; Zilina, Olga; Tammur, Pille; Õunap, Katrin
In European Journal of Medical Genetics June-July 2015 58(6-7):336-340
Academic Journal
Karwacki-Neisius, Violetta; Jang, Ahram; Cukuroglu, Engin; Tai, Albert; Jiao, Alan; Predes, Danilo; Yoon, Joon; Brookes, Emily; Chen, Jiekai; Iberg, Aimee; Halbritter, Florian; Õunap, Katrin; Gecz, Jozef; Schlaeger, Thorsten M.; Ho Sui, Shannan; Göke, Jonathan; He, Xi; Lehtinen, Maria K.; Pomeroy, Scott L.; Shi, Yang
Nature; Mar2024, Vol. 627 Issue 8004, p594-603, 10p
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