학술논문
'학술논문'
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1~10
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
Wiessner, Manuela; Maroofian, Reza; Ni, Meng-Yuan; Pedroni, Andrea; Müller, Juliane S; Stucka, Rolf; Beetz, Christian; Efthymiou, Stephanie; Santorelli, Filippo M; Alfares, Ahmed A; Zhu, Changlian; Uhrova Meszarosova, Anna; Alehabib, Elham; Bakhtiari, Somayeh; Janecke, Andreas R; Otero, Maria Gabriela; Chen, Jin Yun Helen; Peterson, James T; Strom, Tim M; De Jonghe, Peter; Deconinck, Tine; De Ridder, Willem; De Winter, Jonathan; Pasquariello, Rossella; Ricca, Ivana; Alfadhel, Majid; van de Warrenburg, Bart P; Portier, Ruben; Bergmann, Carsten; Ghasemi Firouzabadi, Saghar; Jin, Sheng Chih; Bilguvar, Kaya; Hamed, Sherifa; Abdelhameed, Mohammed; Haridy, Nourelhoda A; Maqbool, Shazia; Rahman, Fatima; Anwar, Najwa; Carmichael, Jenny; Pagnamenta, Alistair; Wood, Nick W; Tran Mau-Them, Frederic; Haack, Tobias; Di Rocco, Maja; Ceccherini, Isabella; Iacomino, Michele; Zara, Federico; Salpietro, Vincenzo; Scala, Marcello; Rusmini, Marta; Xu, Yiran; Wang, Yinghong; Suzuki, Yasuhiro; Koh, Kishin; Nan, Haitian; Ishiura, Hiroyuki; Tsuji, Shoji; Lambert, Laëtitia; Schmitt, Emmanuelle; Lacaze, Elodie; Küpper, Hanna; Dredge, David; Skraban, Cara; Goldstein, Amy; Willis, Mary JH; Grand, Katheryn; Graham, John M; Lewis, Richard A; Millan, Francisca; Duman, Özgür; Dündar, Nihal; Uyanik, Gökhan; Schöls, Ludger; Nürnberg, Peter; Nürnberg, Gudrun; Catala Bordes, Andrea; Seeman, Pavel; Kuchar, Martin; Darvish, Hossein; Rebelo, Adriana; Bouçanova, Filipa; Medard, Jean-Jacques; Chrast, Roman; Auer-Grumbach, Michaela; Alkuraya, Fowzan S; Shamseldin, Hanan; Al Tala, Saeed; Rezazadeh Varaghchi, Jamileh; Najafi, Maryam; Deschner, Selina; Gläser, Dieter; Hüttel, Wolfgang; Kruer, Michael C; Kamsteeg, Erik-Jan; Takiyama, Yoshihisa; Züchner, Stephan; Baets, Jonathan; Synofzik, Matthis; Schüle, Rebecca; Horvath, Rita
Brain. 144(5)
Academic Journal
Bryant, Laura; Li, Dong; Cox, Samuel G; Marchione, Dylan; Joiner, Evan F; Wilson, Khadija; Janssen, Kevin; Lee, Pearl; March, Michael E; Nair, Divya; Sherr, Elliott; Fregeau, Brieana; Wierenga, Klaas J; Wadley, Alexandrea; Mancini, Grazia MS; Powell-Hamilton, Nina; van de Kamp, Jiddeke; Grebe, Theresa; Dean, John; Ross, Alison; Crawford, Heather P; Powis, Zoe; Cho, Megan T; Willing, Marcia C; Manwaring, Linda; Schot, Rachel; Nava, Caroline; Afenjar, Alexandra; Lessel, Davor; Wagner, Matias; Klopstock, Thomas; Winkelmann, Juliane; Catarino, Claudia B; Retterer, Kyle; Schuette, Jane L; Innis, Jeffrey W; Pizzino, Amy; Lüttgen, Sabine; Denecke, Jonas; Strom, Tim M; Monaghan, Kristin G; DDD Study; Yuan, Zuo-Fei; Dubbs, Holly; Bend, Renee; Lee, Jennifer A; Lyons, Michael J; Hoefele, Julia; Günthner, Roman; Reutter, Heiko; Keren, Boris; Radtke, Kelly; Sherbini, Omar; Mrokse, Cameron; Helbig, Katherine L; Odent, Sylvie; Cogne, Benjamin; Mercier, Sandra; Bezieau, Stephane; Besnard, Thomas; Kury, Sebastien; Redon, Richard; Reinson, Karit; Wojcik, Monica H; Õunap, Katrin; Ilves, Pilvi; Innes, A Micheil; Kernohan, Kristin D; Care4Rare Canada Consortium; Costain, Gregory; Meyn, M Stephen; Chitayat, David; Zackai, Elaine; Lehman, Anna; Kitson, Hilary; CAUSES Study; Martin, Martin G; Martinez-Agosto, Julian A; Undiagnosed Diseases Network; Nelson, Stan F; Palmer, Christina GS; Papp, Jeanette C; Parker, Neil H; Sinsheimer, Janet S; Vilain, Eric; Wan, Jijun; Yoon, Amanda J; Zheng, Allison; Brimble, Elise; Ferrero, Giovanni Battista; Radio, Francesca Clementina; Carli, Diana; Barresi, Sabina; Brusco, Alfredo; Tartaglia, Marco; Thomas, Jennifer Muncy; Umana, Luis; Weiss, Marjan M; Gotway, Garrett; Stuurman, KE
Science advances. 6(49)
Academic Journal
Fountain, Michael D; Oleson, David S; Rech, Megan E; Segebrecht, Lara; Hunter, Jill V; McCarthy, John M; Lupo, Philip J; Holtgrewe, Manuel; Moran, Rocio; Rosenfeld, Jill A; Isidor, Bertrand; Le Caignec, Cédric; Saenz, Margarita S; Pedersen, Robert C; Morgan, Thomas M; Pfotenhauer, Jean P; Xia, Fan; Bi, Weimin; Kang, Sung-Hae L; Patel, Ankita; Krantz, Ian D; Raible, Sarah E; Smith, Wendy; Cristian, Ingrid; Torti, Erin; Juusola, Jane; Millan, Francisca; Wentzensen, Ingrid M; Person, Richard E; Küry, Sébastien; Bézieau, Stéphane; Uguen, Kévin; Férec, Claude; Munnich, Arnold; van Haelst, Mieke; Lichtenbelt, Klaske D; van Gassen, Koen; Hagelstrom, Tanner; Chawla, Aditi; Perry, Denise L; Taft, Ryan J; Jones, Marilyn; Masser-Frye, Diane; Dyment, David; Venkateswaran, Sunita; Li, Chumei; Escobar, Luis F; Horn, Denise; Spillmann, Rebecca C; Peña, Loren; Wierzba, Jolanta; Strom, Tim M; Parenti, Ilaria; Kaiser, Frank J; Ehmke, Nadja; Schaaf, Christian P
Genetics in Medicine. 21(8)
Academic Journal
Flannick, Jason; Mercader, Josep M; Fuchsberger, Christian; Udler, Miriam S; Mahajan, Anubha; Wessel, Jennifer; Teslovich, Tanya M; Caulkins, Lizz; Koesterer, Ryan; Barajas-Olmos, Francisco; Blackwell, Thomas W; Boerwinkle, Eric; Brody, Jennifer A; Centeno-Cruz, Federico; Chen, Ling; Chen, Siying; Contreras-Cubas, Cecilia; Córdova, Emilio; Correa, Adolfo; Cortes, Maria; DeFronzo, Ralph A; Dolan, Lawrence; Drews, Kimberly L; Elliott, Amanda; Floyd, James S; Gabriel, Stacey; Garay-Sevilla, Maria Eugenia; García-Ortiz, Humberto; Gross, Myron; Han, Sohee; Heard-Costa, Nancy L; Jackson, Anne U; Jørgensen, Marit E; Kang, Hyun Min; Kelsey, Megan; Kim, Bong-Jo; Koistinen, Heikki A; Kuusisto, Johanna; Leader, Joseph B; Linneberg, Allan; Liu, Ching-Ti; Liu, Jianjun; Lyssenko, Valeriya; Manning, Alisa K; Marcketta, Anthony; Malacara-Hernandez, Juan Manuel; Martínez-Hernández, Angélica; Matsuo, Karen; Mayer-Davis, Elizabeth; Mendoza-Caamal, Elvia; Mohlke, Karen L; Morrison, Alanna C; Ndungu, Anne; Ng, Maggie CY; O’Dushlaine, Colm; Payne, Anthony J; Pihoker, Catherine; Post, Wendy S; Preuss, Michael; Psaty, Bruce M; Vasan, Ramachandran S; Rayner, N William; Reiner, Alexander P; Revilla-Monsalve, Cristina; Robertson, Neil R; Santoro, Nicola; Schurmann, Claudia; So, Wing Yee; Soberón, Xavier; Stringham, Heather M; Strom, Tim M; Tam, Claudia HT; Thameem, Farook; Tomlinson, Brian; Torres, Jason M; Tracy, Russell P; van Dam, Rob M; Vujkovic, Marijana; Wang, Shuai; Welch, Ryan P; Witte, Daniel R; Wong, Tien-Yin; Atzmon, Gil; Barzilai, Nir; Blangero, John; Bonnycastle, Lori L; Bowden, Donald W; Chambers, John C; Chan, Edmund; Cheng, Ching-Yu; Cho, Yoon Shin; Collins, Francis S; de Vries, Paul S; Duggirala, Ravindranath; Glaser, Benjamin; Gonzalez, Clicerio; Gonzalez, Ma Elena; Groop, Leif; Kooner, Jaspal Singh; Kwak, Soo Heon
Nature. 570(7759)
Academic Journal
Sanin, Veronika; Schmieder, Raphael; Ates, Sara; Schlieben, Lea Dewi; Wiehler, Jens; Sun, Ruoyu; Decker, Manuela; Sander, Michaela; Holdenrieder, Stefan; Kohlmayer, Florian; Friedmann, Anna; Mall, Volker; Feiler, Therese; Dreßler, Arne; Strom, Tim M; Prokisch, Holger; Meitinger, Thomas; Scheidt, Moritz von; Koenig, Wolfgang; Leipold, Georg; et al
Academic Journal
Dichgans, Martin; Freilinger, Tobias; Eckstein, Gertrud; Babini, Elena; Lorenz-Depiereux, Bettina; Biskup, Saskia; Ferrari, Michel D; Herzog, Jürgen; van den Maagdenberg, Arn MJM; Pusch, Michael; Strom, Tim M
In The Lancet 2005 366(9483):371-377
Academic Journal
Reijnders, Margot RF; Miller, Kerry A; Alvi, Mohsan; Goos, Jacqueline AC; Lees, Melissa M; de Burca, Anna; Henderson, Alex; Kraus, Alison; Mikat, Barbara; de Vries, Bert BA; Isidor, Bertrand; Kerr, Bronwyn; Marcelis, Carlo; Schluth-Bolard, Caroline; Deshpande, Charu; Ruivenkamp, Claudia AL; Wieczorek, Dagmar; Study, The Deciphering Developmental Disorders; Baralle, Diana; Blair, Edward M; Engels, Hartmut; Lüdecke, Hermann-Josef; Eason, Jacqueline; Santen, Gijs WE; Clayton-Smith, Jill; Chandler, Kate; Tatton-Brown, Katrina; Payne, Katelyn; Helbig, Katherine; Radtke, Kelly; Nugent, Kimberly M; Cremer, Kirsten; Strom, Tim M; Bird, Lynne M; Sinnema, Margje; Bitner-Glindzicz, Maria; van Dooren, Marieke F; Alders, Marielle; Koopmans, Marije; Brick, Lauren; Kozenko, Mariya; Harline, Megan L; Klaassens, Merel; Steinraths, Michelle; Cooper, Nicola S; Edery, Patrick; Yap, Patrick; Terhal, Paulien A; van der Spek, Peter J; Lakeman, Phillis; Taylor, Rachel L; Littlejohn, Rebecca O; Pfundt, Rolph; Mercimek-Andrews, Saadet; Stegmann, Alexander PA; Kant, Sarina G; McLean, Scott; Joss, Shelagh; Swagemakers, Sigrid MA; Douzgou, Sofia; Wall, Steven A; Küry, Sébastien; Calpena, Eduardo; Koelling, Nils; McGowan, Simon J; Twigg, Stephen RF; Mathijssen, Irene MJ; Nellaker, Christoffer; Brunner, Han G; Wilkie, Andrew OM
American Journal of Human Genetics. 102(6)
Academic Journal
Manning, Alisa; Highland, Heather M; Gasser, Jessica; Sim, Xueling; Tukiainen, Taru; Fontanillas, Pierre; Grarup, Niels; Rivas, Manuel A; Mahajan, Anubha; Locke, Adam E; Cingolani, Pablo; Pers, Tune H; Viñuela, Ana; Brown, Andrew A; Wu, Ying; Flannick, Jason; Fuchsberger, Christian; Gamazon, Eric R; Gaulton, Kyle J; Im, Hae Kyung; Teslovich, Tanya M; Blackwell, Thomas W; Bork-Jensen, Jette; Burtt, Noël P; Chen, Yuhui; Green, Todd; Hartl, Christopher; Kang, Hyun Min; Kumar, Ashish; Ladenvall, Claes; Ma, Clement; Moutsianas, Loukas; Pearson, Richard D; Perry, John RB; Rayner, N William; Robertson, Neil R; Scott, Laura J; van de Bunt, Martijn; Eriksson, Johan G; Jula, Antti; Koskinen, Seppo; Lehtimäki, Terho; Palotie, Aarno; Raitakari, Olli T; Jacobs, Suzanne BR; Wessel, Jennifer; Chu, Audrey Y; Scott, Robert A; Goodarzi, Mark O; Blancher, Christine; Buck, Gemma; Buck, David; Chines, Peter S; Gabriel, Stacey; Gjesing, Anette P; Groves, Christopher J; Hollensted, Mette; Huyghe, Jeroen R; Jackson, Anne U; Jun, Goo; Justesen, Johanne Marie; Mangino, Massimo; Murphy, Jacquelyn; Neville, Matt; Onofrio, Robert; Small, Kerrin S; Stringham, Heather M; Trakalo, Joseph; Banks, Eric; Carey, Jason; Carneiro, Mauricio O; DePristo, Mark; Farjoun, Yossi; Fennell, Timothy; Goldstein, Jacqueline I; Grant, George; Hrabé de Angelis, Martin; Maguire, Jared; Neale, Benjamin M; Poplin, Ryan; Purcell, Shaun; Schwarzmayr, Thomas; Shakir, Khalid; Smith, Joshua D; Strom, Tim M; Wieland, Thomas; Lindstrom, Jaana; Brandslund, Ivan; Christensen, Cramer; Surdulescu, Gabriela L; Lakka, Timo A; Doney, Alex SF; Nilsson, Peter; Wareham, Nicholas J; Langenberg, Claudia; Varga, Tibor V; Franks, Paul W; Rolandsson, Olov; Rosengren, Anders H; Farook, Vidya S
Diabetes. 66(7)
Academic Journal
Kim, Jung-Hyun; Shinde, Deepali N; Reijnders, Margot RF; Hauser, Natalie S; Belmonte, Rebecca L; Wilson, Gregory R; Bosch, Daniëlle GM; Bubulya, Paula A; Shashi, Vandana; Petrovski, Slavé; Stone, Joshua K; Park, Eun Young; Veltman, Joris A; Sinnema, Margje; Stumpel, Connie TRM; Draaisma, Jos M; Nicolai, Joost; Genomics, University of Washington Center for Mendelian; Yntema, Helger G; Lindstrom, Kristin; de Vries, Bert BA; Jewett, Tamison; Santoro, Stephanie L; Vogt, Julie; Study, Deciphering Developmental Disorders; Bachman, Kristine K; Seeley, Andrea H; Krokosky, Alyson; Turner, Clesson; Rohena, Luis; Hempel, Maja; Kortüm, Fanny; Lessel, Davor; Neu, Axel; Strom, Tim M; Wieczorek, Dagmar; Bramswig, Nuria; Laccone, Franco A; Behunova, Jana; Rehder, Helga; Gordon, Christopher T; Rio, Marlène; Romana, Serge; Tang, Sha; El-Khechen, Dima; Cho, Megan T; McWalter, Kirsty; Douglas, Ganka; Baskin, Berivan; Begtrup, Amber; Funari, Tara; Schoch, Kelly; Stegmann, Alexander PA; Stevens, Servi JC; Zhang, Dong-Er; Traver, David; Yao, Xu; MacArthur, Daniel G; Brunner, Han G; Mancini, Grazia M; Myers, Richard M; Owen, Laurie B; Lim, Ssang-Taek; Stachura, David L; Vissers, Lisenka ELM; Ahn, Eun-Young Erin
American Journal of Human Genetics. 99(3)
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