학술논문
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'학술논문'
에서 검색결과 111건 | 목록
1~20
Academic Journal
Asadollahi, Reza; Ahmad, Aisha; Boonsawat, Paranchai; Shahanoor Hinzen, Jasmine; Lohse, Mareike; Bouazza-Arostegui, Boris; Sun, Siqi; Utesch, Tillmann; Sommer, Jonas D.; Ilic, Dragana; Padmanarayana, Murugesh; Fischermanns, Kati; Ranjan, Mrinalini; Boll, Moritz; Ka, Chandran; Piton, Amélie; Mattioli, Francesca; Isidor, Bertrand; Õunap, Katrin; Reinson, Karit; Wojcik, Monica H.; Marshall, Christian R.; Mercimek-Andrews, Saadet; Matsumoto, Naomichi; Miyake, Noriko; Stephan, Bruno de Oliveira; Honjo, Rachel Sayuri; Bertola, Debora R.; Kim, Chong Ae; Yusupov, Roman; Mefford, Heather C.; Christodoulou, John; Lee, Joy; Heath, Oliver; Brown, Natasha J.; Baker, Naomi; Stark, Zornitza; Delatycki, Martin; Lake, Nicole J.; Zeidler, Shimriet; Zuurbier, Linda; Maas, Saskia M.; de Kruiff, Chris C.; Rajabi, Farrah; Rodan, Lance H.; Coury, Stephanie A.; Platzer, Konrad; Oppermann, Henry; Abou Jamra, Rami; Beblo, Skadi; Maxton, Caroline; Śmigiel, Robert; Underhill, Hunter; Dubbs, Holly; Rosen, Alyssa; Helbig, Katherine L.; Helbig, Ingo; Ruggiero, Sarah McKeown; Fitzgerald, Mark P.; Kraemer, Dennis; Prada, Carlos E.; Tenney, Jeffrey; Jayakar, Parul; Redon, Sylvia; Lefranc, Jérémie; Uguen, Kevin; Race, Simone; Efthymiou, Stephanie; Maroofian, Reza; Houlden, Henry; Coppens, Sandra; Deconinck, Nicolas; Ashokkumar, Balasubramaniem; Varalakshmi, Perumal; Gowda K, Vykunta Raju; Eghbal, Fatemeh; Ghayoor Karimiani, Ehsan; Heidari, Morteza; Neidhardt, John; Owczarek-Lipska, Marta; Korenke, G. Christoph; Bamshad, Michael J.; Campeau, Philippe M.; Lehman, Anna; Hendon, Laura G.; Wentzensen, Ingrid M.; Monaghan, Kristin G.; Chen, Yanmin; Szuto, Anna; Cohn, Ronald D.; Au, Ping Yee Billie; Hübner, Christoph; Boschann, Felix; Manickam, Kandamurugu; Koboldt, Daniel C.; Rad, Aboulfazl; Oprea, Gabriela; Bachman, Kristine K.; Seeley, Andrea H.; Agolini, Emanuele; Terracciano, Alessandra; Carmelo, Piscopo; Bupp, Caleb; Grysko, Bethany; Rein-Rothschild, Annick; Ben Zeev, Bruria; Margolin, Amy; Morrison, Jennifer; Dagli, Aditi; Stolerman, Elliot; Louie, Raymond J.; Washington, Camerun; Stevens, Servi J. C.; Heijligers, Malou; Alkuraya, Fowzan S.; Lisfeld, Jasmin; Neu, Axel; Paoli Monteiro, Fabíola; Santos Pessoa, André Luiz; Camelo-Filho, Antonio Edvan; Kok, Fernando; Koeberl, Dwight; Riley, Kacie; Burglen, Lydie; Doummar, Diane; Héron, Bénédicte; Mignot, Cyril; Keren, Boris; Charles, Perrine; Nava, Caroline; Bernhard, Felix P.; Kühn, Andrea A.; Thoms, Sven; Morrie, Ryan D.; Mekhoubad, Shila; Green, Eric M.; Barmada, Sami J.; Gitler, Aaron D.; Jahn, Olaf; Rhee, Jeong Seop; Rosenmund, Christian; Mitkovski, Mišo; Sticht, Heinrich; Sun, Han; Le Gac, Gerald; Taschenberger, Holger; Brose, Nils; Dittman, Jeremy S.; Rauch, Anita; Lipstein, Noa
Nature Genetics. :1-14
Academic Journal
Kaisa T. Oja; Mihkel Ilisson; Karit Reinson; Kai Muru; Tiia Reimand; Hedi Peterson; Dmytro Fishman; Toomas Haller; Jaanika Kronberg; Estonian Biobank Research Team; Monica H. Wojcik; Adam D. Kennedy; Laura Sommerville; Gregory Michelotti; Anne O’Donnell-Luria; Eve Õiglane-Shlik; Sander Pajusalu; Katrin Õunap
Frontiers in Neurology, Vol 16 (2025)
Academic Journal
Planas-Serra, Laura ; Rodríguez-Ruiz, Mar ; Anderson, Eric Nathaniel ; Rodríguez-Palmero, Agustí ; Vélez-Santamaria, Valentina ; Schlüter, Agatha ; Verdura, Edgard ; Gereñu, Gorka ; Jiménez-Zúñiga, Andrés ; Iñañez, Alejandro ; Casas, Josefina ; Bech, Joan Josep ; De La Torre, Carolina ; Martínez, Juan José ; Ruiz, Montserrat ; Fourcade, Stéphane ; Iascone, Maria ; Tenconi, Romano ; Meier, Kolja ; Diegmann, Susann ; Lee, Reagan H.C. ; Beland, Bakht ; Mir, Asif ; Darvish, Hossein ; Chung, Wendy ; Karimiani, Ehsan Ghayoor ; Leal, Suzanne M. ; Schrauwen, Isabelle ; Öhman, Susanna ; Järvelä, Irma ; Granvik, Johanna ; Reinson, Karit ; Kurvinen, Elvira ; Õunap, Katrin ; Schwan, Annemarie ; Platzer, Konrad ; Kalayci, Tuğba ; Sharifi, Shahrashoub ; Korenke, G. Christoph ; Houlden, Henry ; Maroofian, Reza ; López de Munaín, Adolfo ; Casasnovas, Carlos ; Pandey, Udai Bhan ; Pujol, Aurora
In The American Journal of Human Genetics 6 November 2025 112(11):2643-2664
Academic Journal
Neugebauer, Julia; Reinson, Karit; Bellusci, Marcello; Park, Julien H.; Hikmat, Omar; Bertini, Enrico; Schiff, Manuel; Ardissone, Anna; Darin, Niklas; Darling, Alejandra; Diodato, Daria; Diogo, Luisa; Kristensen, Erle; Kieć-Wilk, Beata; Macário, Maria Carmo; Martinelli, Diego; Messina, Martina; Ortigoza-Escobar, Juan Darío; Paiva Coelho, Margarida; Pías, Leticia; Sykut-Cegielska, Jolanta; Vanlander, Arnaud; Rahman, Shamima
J Inherit Metab Dis
e12805
The Journal of Inherited Metabolic Disease (JIMD)
e12805
The Journal of Inherited Metabolic Disease (JIMD)
Academic Journal
Puusepp, Sanna; Reinson, Karit; Pajusalu, Sander; van Kuilenburg, Andre B. P.; Dobritzsch, Doreen, 1972; Roelofsen, Jeroen; Stenzel, Werner; Õunap, Katrin
Molecular Genetics and Metabolism Reports. 25
Academic Journal
Küry, Sébastien; Zhang, Jinwei; Besnard, Thomas; Caro-Llopis, Alfonso; Zeng, Xue; Robert, Stephanie; Josiah, Sunday; Kiziltug, Emre; Denommé-Pichon, Anne-Sophie; Cogné, Benjamin; Kundishora, Adam; Hao, Le; Li, Hong; Stevenson, Roger; Louie, Raymond; Deb, Wallid; Torti, Erin; Vignard, Virginie; Mcwalter, Kirsty; Raymond, F Lucy; Rajabi, Farrah; Ranza, Emmanuelle; Grozeva, Detelina; Coury, Stephanie; Blanc, Xavier; Brischoux-Boucher, Elise; Keren, Boris; Õunap, Katrin; Reinson, Karit; Ilves, Pilvi; Wentzensen, Ingrid; Barr, Eileen; Guihard, Solveig Heide; Charles, Perrine; Seaby, Eleanor; Monaghan, Kristin; Rio, Marlène; van Bever, Yolande; van Slegtenhorst, Marjon; Chung, Wendy; Wilson, Ashley; Quinquis, Delphine; Bréhéret, Flora; Retterer, Kyle; Lindenbaum, Pierre; Scalais, Emmanuel; Rhodes, Lindsay; Stouffs, Katrien; Pereira, Elaine; Berger, Sara; Milla, Sarah; Jaykumar, Ankita; Cobb, Melanie; Panchagnula, Shreyas; Duy, Phan; Vincent, Marie; Mercier, Sandra; Gilbert-Dussardier, Brigitte; Le Guillou, Xavier; Audebert-Bellanger, Séverine; Odent, Sylvie; Schmitt, Sébastien; Boisseau, Pierre; Bonneau, Dominique; Toutain, Annick; Colin, Estelle; Pasquier, Laurent; Redon, Richard; Bouman, Arjan; Rosenfeld, Jill; Friez, Michael; Pérez-Peña, Helena; Akhtar Rizvi, Syed Raza; Haider, Shozeb; Antonarakis, Stylianos; Schwartz, Charles; Martínez, Francisco; Bézieau, Stéphane; Kahle, Kristopher; Isidor, Bertrand
GENETICS IN MEDICINE
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
instname
Academic Journal
Tiivoja, Elis; Reinson, Karit; Muru, Kai; Rähn, Kristi; Muhu, Kristina; Mauring, Laura; Kahre, Tiina; Pajusalu, Sander; Õunap, Katrin
JIMD Reports. November, 2022, Vol. 63 Issue 6, p604, 10 p.
Academic Journal
Rots, Dmitrijs ; Chater-Diehl, Eric ; Dingemans, Alexander J.M. ; Goodman, Sarah J. ; Siu, Michelle T. ; Cytrynbaum, Cheryl ; Choufani, Sanaa ; Hoang, Ny ; Walker, Susan ; Awamleh, Zain ; Charkow, Joshua ; Meyn, Stephen ; Pfundt, Rolph ; Rinne, Tuula ; Gardeitchik, Thatjana ; de Vries, Bert B.A. ; Deden, A. Chantal ; Leenders, Erika ; Kwint, Michael ; Stumpel, Constance T.R.M. ; Stevens, Servi J.C. ; Vermeulen, Jeroen R. ; van Harssel, Jeske V.T. ; Bosch, Danielle G.M. ; van Gassen, Koen L.I. ; van Binsbergen, Ellen ; de Geus, Christa M. ; Brackel, Hein ; Hempel, Maja ; Lessel, Davor ; Denecke, Jonas ; Slavotinek, Anne ; Strober, Jonathan ; Crunk, Amy ; Folk, Leandra ; Wentzensen, Ingrid M. ; Yang, Hui ; Zou, Fanggeng ; Millan, Francisca ; Person, Richard ; Xie, Yili ; Liu, Shuxi ; Ousager, Lilian B. ; Larsen, Martin ; Schultz-Rogers, Laura ; Morava, Eva ; Klee, Eric W. ; Berry, Ian R. ; Campbell, Jennifer ; Lindstrom, Kristin ; Pruniski, Brianna ; Neumeyer, Ann M. ; Radley, Jessica A. ; Phornphutkul, Chanika ; Schmidt, Berkley ; Wilson, William G. ; Õunap, Katrin ; Reinson, Karit ; Pajusalu, Sander ; van Haeringen, Arie ; Ruivenkamp, Claudia ; Cuperus, Roos ; Santos-Simarro, Fernando ; Palomares-Bralo, María ; Pacio-Míguez, Marta ; Ritter, Alyssa ; Bhoj, Elizabeth ; Tønne, Elin ; Tveten, Kristian ; Cappuccio, Gerarda ; Brunetti-Pierri, Nicola ; Rowe, Leah ; Bunn, Jason ; Saenz, Margarita ; Platzer, Konrad ; Mertens, Mareike ; Caluseriu, Oana ; Nowaczyk, Małgorzata J.M. ; Cohn, Ronald D. ; Kannu, Peter ; Alkhunaizi, Ebba ; Chitayat, David ; Scherer, Stephen W. ; Brunner, Han G. ; Vissers, Lisenka E.L.M. ; Kleefstra, Tjitske ; Koolen, David A. ; Weksberg, Rosanna
In The American Journal of Human Genetics 3 June 2021 108(6):1053-1068
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
Human Genetics and Genomics Advances. 4(1)
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.; Ounap 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
The American journal of human genetics
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
Lilleväli, Hardo ; Reinson, Karit ; Muru, Kai ; Saarsalu, Siret ; Künnapas, Kadi ; Kahre, Tiina ; Murumets, Ülle ; Õunap, Katrin
In Molecular Genetics and Metabolism Reports June 2019 19
Academic Journal
Franková, Věra; Driscoll, Riona O.; Jansen, Marleen E.; Loeber, J. Gerard; Kožich, Viktor; Bonham, James; Borde, Patricia; Brincat, Ian; Cheillan, David; Dekkers, Eugenie; Fingerhut, Ralph; Kuš, Iva Bilandžija; Girginoudis, Panagiotis; Groselj, Urh; Hougaard, David; Knapková, Mária; la Marca, Giancarlo; Malniece, Ieva; Nanu, Michaela Iuliana; Nennstiel, Uta; Olkhovych, Nataliia; Oltarzewski, Mariusz; Pettersen, Rolf D.; Racz, Gabor; Reinson, Karit; Salimbayeva, Damilya; Songailiene, Jurgita; Vilarinho, Laura; Vogazianos, Marios; Zetterström, Rolf H.; Zeyda, Maximilian
European Journal of Human Genetics. 29(1):67-78
Academic Journal
Puusepp, Sanna ; Reinson, Karit ; Pajusalu, Sander ; Murumets, Ülle ; Õiglane-Shlik, Eve ; Rein, Reet ; Talvik, Inga ; Rodenburg, Richard J. ; Õunap, Katrin
In Molecular Genetics and Metabolism Reports June 2018 15:80-89
Academic Journal
In Molecular Genetics and Metabolism Reports June 2018 15:1-5
Academic Journal
Yakoreva, Maria; Kahre, Tiina; Žordania, Riina; Reinson, Karit; Teek, Rita; Tillmann, Vallo; Peet, Aleksandr; Õiglane-Shlik, Eve; Pajusalu, Sander; Murumets, Ülle; Vals, Mari-Anne; Mee, Pille; Wojcik, Monica H.; Õunap, Katrin
European Journal of Human Genetics. 27(11):1649-1658
Academic Journal
Wojcik, Monica H.; Lemire, Gabrielle; Berger, Eva; Zaki, Maha S.; Wissmann, Mariel; Win, Wathone; White, Susan M.; Weisburd, Ben; Wieczorek, Dagmar; Waddell, Leigh B.; Verboon, Jeffrey M.; VanNoy, Grace E.; Toepf, Ana; Tan, Tiong Yang; Syrbe, Steffen; Strehlow, Vincent; Straub, Volker; Stenton, Sarah L.; Snow, Hana; Singer-Berk, Moriel; Silver, Josh; Shril, Shirlee; Seaby, Eleanor G.; Schneider, Ronen; Sankaran, Vijay G.; Sanchis-Juan, Alba; Russell, Kathryn A.; Reinson, Karit; Ravenscroft, Gianina; Radtke, Maximilian; Popp, Denny; Polster, Tilman; Platzer, Konrad; Pierce, Eric A.; Place, Emily M.; Pajusalu, Sander; Pais, Lynn; Ounap, Katrin; Osei-Owusu, Ikeoluwa; Opperman, Henry; Okur, Volkan; Oja, Kaisa Teele; O'Leary, Melanie; O'Heir, Emily; Morel, Chantal F.; Merkenschlager, Andreas; Marchant, Rhett G.; Mangilog, Brian E.; Madden, Jill A.; MacArthur, Daniel; Lovgren, Alysia; Lerner-Ellis, Jordan P.; Lin, Jasmine; Laing, Nigel; Hildebrandt, Friedhelm; Hentschel, Julia; Groopman, Emily; Goodrich, Julia; Gleeson, Joseph G.; Ghaoui, Roula; Genetti, Casie A.; Gburek-Augustat, Janina; Gazda, Hanna T.; Ganesh, Vijay S.; Ganapathi, Mythily; Gallacher, Lyndon; Fu, Jack M.; Evangelista, Emily; England, Eleina; Donkervoort, Sandra; DiTroia, Stephanie; Cooper, Sandra T.; Chung, Wendy K.; Christodoulou, John; Chao, Katherine R.; Cato, Liam D.; Bujakowska, Kinga M.; Bryen, Samantha J.; Brand, Harrison; Boennemann, Carsten G.; Beggs, Alan H.; Baxter, Samantha M.; Bartolomaeus, Tobias; Agrawal, Pankaj B.; Talkowski, Michael; Austin-Tse, Christina; Abou Jamra, Rami; Rehm, Heidi L.; O'Donnell-Luria, Anne
Academic Journal
Thompson, Kyle ; Majd, Homa ; Dallabona, Cristina ; Reinson, Karit ; King, Martin S. ; Alston, Charlotte L. ; He, Langping ; Lodi, Tiziana ; Jones, Simon A. ; Fattal-Valevski, Aviva ; Fraenkel, Nitay D. ; Saada, Ann ; Haham, Alon ; Isohanni, Pirjo ; Vara, Roshni ; Barbosa, Inês A. ; Simpson, Michael A. ; Deshpande, Charu ; Puusepp, Sanna ; Bonnen, Penelope E. ; Rodenburg, Richard J. ; Suomalainen, Anu ; Õunap, Katrin ; Elpeleg, Orly ; Ferrero, Ileana ; McFarland, Robert ; Kunji, Edmund R.S. ; Taylor, Robert W.
In The American Journal of Human Genetics 6 October 2016 99(4):860-876
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