학술논문
'학술논문'
에서 검색결과 201건 | 목록
1~10
Academic Journal
Kalm, Tassja; Schob, Claudia; Völler, Hanna; Gardeitchik, Thatjana; Gilissen, Christian; Pfundt, Rolph; Klöckner, Chiara; Platzer, Konrad; Klabunde-Cherwon, Annick; Ries, Markus; Syrbe, Steffen; Beccaria, Francesca; Madia, Francesca; Scala, Marcello; Zara, Federico; Hofstede, Floris; Simon, Marleen E.H.; van Jaarsveld, Richard H.; Oegema, Renske; van Gassen, Koen L.I.; Holwerda, Sjoerd J.B.; Barakat, Tahsin Stefan; Bouman, Arjan; van Slegtenhorst, Marjon; Álvarez, Sara; Fernández-Jaén, Alberto; Porta, Javier; Accogli, Andrea; Mancardi, Margherita Maria; Striano, Pasquale; Iacomino, Michele; Chae, Jong-Hee; Jang, SeSong; Kim, Soo Y.; Chitayat, David; Mercimek-Andrews, Saadet; Depienne, Christel; Kampmeier, Antje; Kuechler, Alma; Surowy, Harald; Bertini, Enrico Silvio; Radio, Francesca Clementina; Mancini, Cecilia; Pizzi, Simone; Tartaglia, Marco; Gauthier, Lucas; Genevieve, David; Tharreau, Mylène; Azoulay, Noy; Zaks-Hoffer, Gal; Gilad, Nesia K.; Orenstein, Naama; Bernard, Geneviève; Thiffault, Isabelle; Denecke, Jonas; Herget, Theresia; Kortüm, Fanny; Kubisch, Christian; Bähring, Robert; Kindler, Stefan
In The American Journal of Human Genetics 6 June 2024 111(6):1206-1221
Academic Journal
Bayat, Allan; Grimes, Hannah; de Boer, Elke; Herlin, Morten Krogh; Dahl, Rebekka Staal; Lund, Ida Charlotte Bay; Bayat, Michael; Bolund, Anneli Clea Skjelmose; Gjerulfsen, Cathrine Elisabeth; Gregersen, Pernille Axél; Zilmer, Monica; Juhl, Stefan; Cebula, Katarzyna; Rahikkala, Elisa; Maystadt, Isabelle; Peron, Angela; Vignoli, Aglaia; Alfano, Rosa Maria; Stanzial, Franco; Benedicenti, Francesco; Currò, Aurora; Luk, Ho-Ming; Jouret, Guillaume; Zurita, Ella; Heuft, Lara; Schnabel, Franziska; Busche, Andreas; Veenstra-Knol, Hermine Elisabeth; Tkemaladze, Tinatin; Vrielynck, Pascal; Lederer, Damien; Platzer, Konrad; Ockeloen, Charlotte Wilhelmina; Goel, Himanshu; Low, Karen Jaqueline
In Genetics in Medicine August 2024 26(8)
Academic Journal
Burrage, Lindsay C.; Heaney, Jason D.; Kim, Seon-Young; Lanza, Denise G.; Liu, Zhandong; Mao, Dongxue; Milosavljevic, Aleksander; Nagamani, Sandesh C.S.; Posey, Jennifer E.; Ramamurthy, Uma; Ramanathan, Vivek; Rogers, Jeffrey; Rosenfeld, Jill A.; Roth, Matthew; Zahedi Darshoori, Ramin; Pan, Xueyang; Tao, Alice M.; Lu, Shenzhao; Ma, Mengqi; Hannan, Shabab B.; Slaugh, Rachel; Drewes Williams, Sarah; O'Grady, Lauren; Kanca, Oguz; Person, Richard; Carter, Melissa T.; Platzer, Konrad; Schnabel, Franziska; Abou Jamra, Rami; Roberts, Amy E.; Newburger, Jane W.; Revah-Politi, Anya; Granadillo, Jorge L.; Stegmann, Alexander P.A.; Sinnema, Margje; Accogli, Andrea; Salpietro, Vincenzo; Capra, Valeria; Ghaloul-Gonzalez, Lina; Brueckner, Martina; Simon, Marleen E.H.; Sweetser, David A.; Glinton, Kevin E.; Kirk, Susan E.; Wangler, Michael F.; Yamamoto, Shinya; Chung, Wendy K.; Bellen, Hugo J.
In The American Journal of Human Genetics 4 April 2024 111(4):742-760
Academic Journal
de Fallois, Jonathan; Sieckmann, Tobias; Schönauer, Ria; Petzold, Friederike; Münch, Johannes; Pauly, Melissa; Vasileiou, Georgia; Findeisen, Christin; Kampmeier, Antje; Kuechler, Alma; Reis, André; Decker, Eva; Bergmann, Carsten; Platzer, Konrad; Tasic, Velibor; Kirschner, Karin Michaela; Shril, Shirlee; Hildebrandt, Friedhelm; Chung, Wendy K.; Halbritter, Jan
In Kidney International Reports May 2024
Academic Journal
Bosch, Elisabeth; Popp, Bernt; Güse, Esther; Skinner, Cindy; van der Sluijs, Pleuntje J.; Maystadt, Isabelle; Pinto, Anna Maria; Renieri, Alessandra; Bruno, Lucia Pia; Granata, Stefania; Marcelis, Carlo; Baysal, Özlem; Hartwich, Dewi; Holthöfer, Laura; Isidor, Bertrand; Cogne, Benjamin; Wieczorek, Dagmar; Capra, Valeria; Scala, Marcello; De Marco, Patrizia; Ognibene, Marzia; Jamra, Rami Abou; Platzer, Konrad; Carter, Lauren B.; Kuismin, Outi; van Haeringen, Arie; Maroofian, Reza; Valenzuela, Irene; Cuscó, Ivon; Martinez-Agosto, Julian A.; Rabani, Ahna M.; Mefford, Heather C.; Pereira, Elaine M.; Close, Charlotte; Anyane-Yeboa, Kwame; Wagner, Mallory; Hannibal, Mark C.; Zacher, Pia; Thiffault, Isabelle; Beunders, Gea; Umair, Muhammad; Bhola, Priya T.; McGinnis, Erin; Millichap, John; van de Kamp, Jiddeke M.; Prijoles, Eloise J.; Dobson, Amy; Shillington, Amelle; Graham, Brett H.; Garcia, Evan-Jacob; Galindo, Maureen Kelly; Ropers, Fabienne G.; Nibbeling, Esther A.R.; Hubbard, Gail; Karimov, Catherine; Goj, Guido; Bend, Renee; Rath, Julie; Morrow, Michelle M.; Millan, Francisca; Salpietro, Vincenzo; Torella, Annalaura; Nigro, Vincenzo; Kurki, Mitja; Stevenson, Roger E.; Santen, Gijs W.E.; Zweier, Markus; Campeau, Philippe M.; Severino, Mariasavina; Reis, André; Accogli, Andrea; Vasileiou, Georgia
In Genetics in Medicine November 2023 25(11)
Academic Journal
Calame, Daniel G.; Guo, Tianyu; Wang, Chen; Garrett, Lillian; Jolly, Angad; Dawood, Moez; Kurolap, Alina; Henig, Noa Zunz; Fatih, Jawid M.; Herman, Isabella; Du, Haowei; Mitani, Tadahiro; Becker, Lore; Rathkolb, Birgit; Gerlini, Raffaele; Seisenberger, Claudia; Marschall, Susan; Hunter, Jill V.; Gerard, Amanda; Heidlebaugh, Alexis; Challman, Thomas; Spillmann, Rebecca C.; Jhangiani, Shalini N.; Coban-Akdemir, Zeynep; Lalani, Seema; Liu, Lingxiao; Revah-Politi, Anya; Iglesias, Alejandro; Guzman, Edwin; Baugh, Evan; Boddaert, Nathalie; Rondeau, Sophie; Ormieres, Clothide; Barcia, Giulia; Tan, Queenie K.G.; Thiffault, Isabelle; Pastinen, Tomi; Sheikh, Kazim; Biliciler, Suur; Mei, Davide; Melani, Federico; Shashi, Vandana; Yaron, Yuval; Steele, Mary; Wakeling, Emma; Østergaard, Elsebet; Nazaryan-Petersen, Lusine; Millan, Francisca; Santiago-Sim, Teresa; Thevenon, Julien; Bruel, Ange-Line; Thauvin-Robinet, Christel; Popp, Denny; Platzer, Konrad; Gawlinski, Pawel; Wiszniewski, Wojciech; Marafi, Dana; Pehlivan, Davut; Posey, Jennifer E.; Gibbs, Richard A.; Gailus-Durner, Valerie; Guerrini, Renzo; Fuchs, Helmut; Hrabě de Angelis, Martin; Hölter, Sabine M.; Cheung, Hoi-Hung; Gu, Shen; Lupski, James R.
In The American Journal of Human Genetics 3 August 2023 110(8):1394-1413
Academic Journal
Priestley, Jessica R.C.; Deshwar, Ashish R.; Murthy, Harsha; D’Agostino, Maria D.; Dupuis, Lucie; Gangaram, Balram; Gray, Christopher; Jobling, Rebekah; Pannia, Emanuela; Platzer, Konrad; Prescott, Katrina; Redman, Melody; Rippert, Alyssa L.; Rosenfeld, Jill A.; Scott, Daryl A.; Wang, Yi W.; Schmederer, Zelia; Dalal, Ashwin; Sarma, Asodu S.; Skraban, Cara; Dowling, James.J.; Mendoza-Londono, Roberto; Slavotinek, Anne; Bhoj, Elizabeth J.
In Genetics in Medicine August 2023 25(8)
Academic Journal
Bundalian, Linnaeus; Su, Yin-Yuan; Chen, Siwei; Velluva, Akhil; Kirstein, Anna Sophia; Garten, Antje; Biskup, Saskia; Battke, Florian; Lal, Dennis; Heyne, Henrike O.; Platzer, Konrad; Lin, Chen-Ching; Lemke, Johannes R.; Le Duc, Diana
In The American Journal of Human Genetics 6 July 2023 110(7):1110-1122
Academic Journal
Cediel, Maria Lucia; Stawarski, Michal; Blanc, Xavier; Nosková, Lenka; Magner, Martin; Platzer, Konrad; Gburek-Augustat, Janina; Baldridge, Dustin; Constantino, John N.; Ranza, Emmanuelle; Bettler, Bernhard; Antonarakis, Stylianos E.
In The American Journal of Human Genetics 6 October 2022 109(10):1885-1893
Academic Journal
Rosenhahn, Erik; O’Brien, Thomas J.; Zaki, Maha S.; Sorge, Ina; Wieczorek, Dagmar; Rostasy, Kevin; Vitobello, Antonio; Nambot, Sophie; Alkuraya, Fowzan S.; Hashem, Mais O.; Alhashem, Amal; Tabarki, Brahim; Alamri, Abdullah S.; Al Safar, Ayat H.; Bubshait, Dalal K.; Alahmady, Nada F.; Gleeson, Joseph G.; Abdel-Hamid, Mohamed S.; Lesko, Nicole; Ygberg, Sofia; Correia, Sandrina P.; Wredenberg, Anna; Alavi, Shahryar; Seyedhassani, Seyed M.; Ebrahimi Nasab, Mahya; Hussien, Haytham; Omar, Tarek E.I.; Harzallah, Ines; Touraine, Renaud; Tajsharghi, Homa; Morsy, Heba; Houlden, Henry; Shahrooei, Mohammad; Ghavideldarestani, Maryam; Abdel-Salam, Ghada M.H.; Torella, Annalaura; Zanobio, Mariateresa; Terrone, Gaetano; Brunetti-Pierri, Nicola; Omrani, Abdolmajid; Hentschel, Julia; Lemke, Johannes R.; Sticht, Heinrich; Abou Jamra, Rami; Brown, Andre E.X.; Maroofian, Reza; Platzer, Konrad
In The American Journal of Human Genetics 4 August 2022 109(8):1421-1435
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