학술논문
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'학술논문'
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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
Niepokój, Katarzyna; Rygiel, Agnieszka Magdalena; Wertheim-Tysarowska, Katarzyna; Sawicka, Justyna; Dorożko, Barbara; Grabarczyk, Alicja; Obersztyn, Ewa; Kutkowska-Kaźmierczak, Anna; Klapecki, Jakub; Barczyk, Artur; Własienko, Paweł; Jurczak, Piotr; Lebiedzińska, Aneta; Śmigiel, Robert; Jakubiak, Aleksandra; Wierzba, Jolanta; Kaczorowska, Ewa; Pietrzyk, Aleksandra; Sorbaj-Sucharska, Grażyna; Limon, Janusz; Bal, Jerzy
Journal of Applied Genetics. :1-10
Academic Journal
Journal of Communication Disorders. 120
Academic Journal
Joanna Chrzanowska; Julia Lachowska; Maja Weimann; Agnieszka Zubkiewicz-Kucharska; Konstancja Fornalczyk; Katarzyna Kilis-Pstrusińska; Robert Smigiel
Front Endocrinol (Lausanne)
Frontiers in Endocrinology, Vol 16 (2025)
Frontiers in Endocrinology, Vol 16 (2025)
Academic Journal
Gehlen, Jan; Giel, Ann-Sophie; Koellges, Ricarda; Haas, Stephan L.; Zhang, Rong; Trcka, Jiri; Sungur, Ayse O.; Renziehausen, Florian; Bornholdt, Dorothea; Jung, Daphne; Hoyer, Paul D.; Nordenskjold, Agneta; Tibboel, Dick; Vlot, John; Spaander, Manon C. W.; Smigiel, Robert; Patkowski, Dariusz; Roeleveld, Nel; van Rooij, Iris Alm; de Blaauw, Ivo; Hoelscher, Alice; Pauly, Marcus; Leutner, Andreas; Fuchs, Joerg; Niethammer, Joel; Melissari, Maria-Theodora; Jenetzky, Ekkehart; Zwink, Nadine; Thiele, Holger; Hilger, Alina Christine; Hess, Timo; Trautmann, Jessica; Marks, Matthias; Baumgarten, Martin; Blaess, Gaby; Landen, Mikael; Fundin, Bengt; Bulik, Cynthia M.; Pennimpede, Tracie; Ludwig, Michael; Ludwig, Kerstin U.; Mangold, Elisabeth; Heilmann-Heimbach, Stefanie; Moebus, Susanne; Herrmann, Bernhard G.; Alsabeah, Kristina; Burgos, Carmen M.; Engstrand Lilja, Helene, 1963; Azodi, Sahar; Stenstrom, Pernilla; Arnbjornsson, Einar; Frybova, Barbora; Lebensztejn, Dariusz M.; Debek, Wojciech; Kolodziejczyk, Elwira; Kozera, Katarzyna; Kierkus, Jaroslaw; Kalicinski, Piotr; Stefanowicz, Marek; Socha-Banasiak, Anna; Kolejwa, Michal; Piaseczna-Piotrowska, Anna; Czkwianianc, Elzbieta; Noethen, Markus M.; Grote, Phillip; Rygl, Michal; Reinshagen, Konrad; Spychalski, Nicole; Ludwikowski, Barbara; Hubertus, Jochen; Heydweiller, Andreas; Ure, Benno; Muensterer, Oliver J.; Aubert, Ophelia; Gosemann, Jan-Hendrik; Lacher, Martin; Degenhardt, Petra; Boemers, Thomas M.; Mokrowiecka, Anna; Malecka-Panas, Ewa; Woehr, Markus; Knapp, Michael; Seitz, Guido; de Klein, Annelies; Oracz, Grzegorz; Brosens, Erwin; Reutter, Heiko; Schumacher, Johannes
Human Genetics and Genomics Advances. 3(2)
Academic Journal
Wertheim-Tysarowska, Katarzyna; Osipowicz, Katarzyna; Woźniak, Katarzyna; Sawicka, Justyna; Mika, Adrianna; Kutkowska-Kaźmierczak, Anna; Niepokój, Katarzyna; Sobczyńska-Tomaszewska, Agnieszka; Wawrzycki, Bartłomiej; Pietrzak, Aldona; Śmigiel, Robert; Wojtaś, Bartosz; Gielniewski, Bartłomiej; Szabelska-Beresewicz, Alicja; Zyprych-Walczak, Joanna; Rygiel, Agnieszka Magdalena; Domaszewicz, Alicja; Braun-Walicka, Natalia; Grabarczyk, Alicja; Rzońca-Niewczas, Sylwia; Lidia, Ruszkowska; Dawidziuk, Mateusz; Domański, Dominik; Gambin, Tomasz; Jackiewicz, Monika; Duk, Katarzyna; Dorożko, Barbara; Szczygielski, Orest; Krześniak, Natalia; Noszczyk, Bartłomiej H; Obersztyn, Ewa; Wierzba, Jolanta; Barczyk, Artur; Castaneda, Jennifer; Eckersdorf-Mastalerz, Anna; Jakubiuk-Tomaszuk, Anna; Własienko, Paweł; Jaszczuk, Ilona; Jezela-Stanek, Aleksandra; Klapecki, Jakub; van Geel, Michel; Kowalewski, Cezary; Bal, Jerzy; Gostyński, Antoni
Orphanet Journal of Rare Diseases. 19(1)
Academic Journal
Suleja, Agata; Milska-Musa, Katarzyna; Przysło, Łukasz; Bednarczyk, Marzena; Kostecki, Marcin; Cysewski, Dominik; Matryba, Paweł; Rozensztrauch, Anna; Dwornik, Michał; Opacki, Marcin; Śmigiel, Robert; Łukasiewicz, Kacper
Orphanet Journal of Rare Diseases. 19(1)
Academic Journal
Ting‐Yu Lin; Robert Smigiel; Bozena Kuzniewska; Joanna J. Chmielewska; Joanna Kosińska; Mateusz Biela; Anna Biela; Anna Kościelniak; Dominika Dobosz; Izabela Laczmanska; Andrzej Chramiec‐Głąbik; Jakub Jeżowski; Jakub Nowak; Monika Gos; Sylwia Rzonca‐Niewczas; Magdalena Dziembowska; Rafał Ploski; Sebastian Glatt
Hum Mutat
Human Mutation
Human Mutation
Academic Journal
Maike F. Dohrn; Adriana P. Rebelo; Siddharth Srivastava; Gerarda Cappuccio; Robert Smigiel; Alka Malhotra; Donald Basel; Ingrid van de Laar; Rinze Frederik Neuteboom; Coranne Aarts-Tesselaar; Sonal Mahida; Nicola Brunetti-Pierri; Ryan J. Taft; Stephan Züchner
Neurology. 98:440-445
Academic Journal
The International EA-QOL Group; Michaela Dellenmark Blom; Stefanie Witt; Benjamin Zendejas; Ivana Sabolić; Juan Domingo Porras-Hernandez; Natalie Durkin; Simon Eaton; Kjersti Birketvedt; Alba Sánchez Galán; Katalin Eszter Müller; Anna Rozensztrauch; Tutku Soyer; Siqi Li; Anastasia Fourtaka; Corne de Vos; Graham Slater; Ana Špoljarić; John Bennett; Ragnhild Emblem; Zita Andrásdi; Robert Smigiel; Dariusz Patkowski; Çiğdem Ulukaya Durakbaşa; Marina Stilinović; Frederic Gottrand; Dora Škrljak Šoša; Tomislav Luetić; Sylwester Gerus; Shen Yang; Yong Zhao; Yichao Gu; Shuangshuang Li; Diego Rodriguez-Alvirde; Orsolya Kadenczki; Miram Pasini; Vuokko Wallace; Anke Widenmann; Feliciana Milagres Sikwete; Jinshi Huang; Leopoldo Martínez Martínez; Kate Abrahamsson; Shawn Izadi; Benno M Ure; Daniel Sidler; Julia H Quitmann; Jens Dingemann
Frontiers in Pediatrics, Vol 11 (2023)
Academic Journal
Journal of Neonatal Nursing. 27:341-346
Academic Journal
Agata Pastorczak; Anna Hogendorf; Zuzanna Urbanska; Edyta Budzynska; Dorota Jesionek‐Kupnicka; Agnieszka Gach; Wanda Hawula; Robert Smigiel; Pawel Skiba; Maria Sasiadek; Monika Lejman; Maria Constatinou; Beata S. Lipska‐Ziętkiewicz; Wojciech Mlynarski
Genes, Chromosomes and Cancer. 60:79-87
Academic Journal
Toshiyuki Itai; Satoko Miyatake; Masataka Taguri; Fumihito Nozaki; Masayasu Ohta; Hitoshi Osaka; Masafumi Morimoto; Tomoko Tandou; Fumikatsu Nohara; Yuichi Takami; Fumitaka Yoshioka; Shoko Shimokawa; Jiu Okuno-Yuguchi; Mitsuo Motobayashi; Yuko Takei; Tetsuhiro Fukuyama; Satoko Kumada; Yohane Miyata; Chikako Ogawa; Yuki Maki; Noriko Togashi; Teruyuki Ishikura; Makoto Kinoshita; Yusuke Mitani; Yonehiro Kanemura; Tsuyoshi Omi; Naoki Ando; Ayako Hattori; Shinji Saitoh; Yukihiro Kitai; Satori Hirai; Hiroshi Arai; Fumihiko Ishida; Hidetoshi Taniguchi; Yasuji Kitabatake; Keiichi Ozono; Shin Nabatame; Robert Smigiel; Mitsuhiro Kato; Koichi Tanda; Yoshihiko Saito; Akihiko Ishiyama; Yushi Noguchi; Mazumi Miura; Takaaki Nakano; Keiko Hirano; Ryoko Honda; Ichiro Kuki; Jun-ichi Takanashi; Akihito Takeuchi; Tatsuya Fukasawa; Chizuru Seiwa; Atsuko Harada; Yusuke Yachi; Hiroyuki Higashiyama; Hiroshi Terashima; Tadayuki Kumagai; Satoshi Hada; Yoshiichi Abe; Etsuko Miyagi; Yuri Uchiyama; Atsushi Fujita; Eri Imagawa; Yoshiteru Azuma; Kohei Hamanaka; Eriko Koshimizu; Satomi Mitsuhashi; Takeshi Mizuguchi; Atsushi Takata; Noriko Miyake; Yoshinori Tsurusaki; Hiroshi Doi; Mitsuko Nakashima; Hirotomo Saitsu; Naomichi Matsumoto
Journal of Medical Genetics. 58:505-513
Academic Journal
Ivan Ivanovski; Olivera Djuric; Serena Broccoli; Stefano Giuseppe Caraffi; Patrizia Accorsi; Margaret P. Adam; Kristina Avela; Magdalena Badura-Stronka; Allan Bayat; Jill Clayton-Smith; Isabella Cocco; Duccio Maria Cordelli; Goran Cuturilo; Veronica Di Pisa; Juliette Dupont Garcia; Roberto Gastaldi; Lucio Giordano; Andrea Guala; Christina Hoei-Hansen; Mie Inaba; Alessandro Iodice; Jens Erik Klint Nielsen; Vladimir Kuburovic; Brissia Lazalde-Medina; Baris Malbora; Seiji Mizuno; Oana Moldovan; Rikke S. Møller; Petra Muschke; Valeria Otelli; Chiara Pantaleoni; Carmelo Piscopo; Maria Luisa Poch-Olive; Igor Prpic; Purificación Marín Reina; Federico Raviglione; Emilia Ricci; Emanuela Scarano; Graziella Simonte; Robert Smigiel; George Tanteles; Luigi Tarani; Aurelien Trimouille; Elvis Terci Valera; Samantha Schrier Vergano; Karin Writzl; Bert Callewaert; Salvatore Savasta; Maria Elisabeth Street; Lorenzo Iughetti; Sergio Bernasconi; Paolo Giorgi Rossi; Livia Garavelli
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)
Academic Journal
Natalia, Borkowska; Lukasz, Kaluzny; Dariusz, Rokicki; Elzbieta, Szmida; Pawel, Kowalski; Monika, Dus-Zuchowska; Pawel, Skiba; Elzbieta, Ciara; Mateusz, Biela; Malgorzata, Rydzanicz; Rafal, Ploski; Robert, Smigiel
Academic Journal
Bodetko, Aleksandra; Chrzanowska, Joanna; Rydzanicz, Malgorzata; Borys-Iwanicka, Agnieszka; Karpinski, Pawel; Bladowska, Joanna; Ploski, Rafal; Smigiel, Robert
Genes. February, 2024, Vol. 15 Issue 2
Academic Journal
Magdalena Klaniewska; Krystian Toczewski; Anna Rozensztrauch; Michal Bloch; Agata Dzielendziak; Piotr Gasperowicz; Ryszard Slezak; Rafał Ploski; Małgorzata Rydzanicz; Robert Smigiel; Dariusz Patkowski
Frontiers in Pediatrics, Vol 9 (2021)
Academic Journal
Robert, Smigiel; Anna, Rozensztrauch; Anna, Walczak; Małgorzata, Rydzanicz; Piotr, Stawinski; Marta, Berghausen-Mazur; Grażyna, Kostrzewa; Malgorzata, Sasiadek; Rafal, Ploski
Clinical Dysmorphology. 28:211-214
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