학술논문
'학술논문'
에서 검색결과 64건 | 목록
1~10
Academic Journal
Deutsch, K.; Klämbt, V.; Kitzler, T.M.; Jobst-Schwan, T.; Schneider, R.; Buerger, F.; Seltzsam, S.; Nicolas-Frank, C.; Yousef, K.; Schierbaum, L.M.; Schneider, S.; Halawi, A.; Elmubarak, I.; Lemberg, K.; Shril, S.; Rodig, N.; Hildebrandt, F.; El Desoky, S.; Kari, J.A.; Hafeez, F.; Szczepańska, M.; Eid, L.A.; Awad, H.S.; Al-Saffar, M.; Soliman, N.A.; Tasic, V.; Mane, S.M.
In: Genes and Diseases . (Genes and Diseases, September 2024, 11(5))
Academic Journal
Kaminski, Michael M.; Alcantar, Miguel A.; Lape, Isadora T.; Greensmith, Robert; Huske, Allison C.; Valeri, Jacqueline A.; Marty, Francisco M.; Klämbt, Verena; Azzi, Jamil; Akalin, Enver; Riella, Leonardo V.; Collins, James J.
Nature Biomedical Engineering. 4(6):601-609
Electronic Resource
Klämbt, V.; Buerger, F.; Wang, C.; Naert, T.; Richter, K.; Nauth, T.; Weiss, A.C.; Sieckmann, T.; Lai, E.; Connaughton, D.M.; Seltzsam, S.; Mann, N.; Majmundar, A.J.; Wu, C.W.; Onuchic-Whitford, A.C.; Shril, S.; Schneider, S.; Schierbaum, L.; Dai, R.; Bekheirnia, M.R.; Joosten, Marieke; Shlomovitz, O.; Vivante, A.; Banne, E.; Mane, S.; Lifton, R.P.; Kirschner, K.M.; Kispert, A.; Rosenberger, G.; Fischer, K.D.; Lienkamp, S.S.; Zegers, M.M.P.; Hildebrandt, F.
Journal of the American Society of Nephrology; 273; 290; 1046-6673; 2; 34; ~Journal of the American Society of Nephrology~273~290~~~1046-6673~2~34~~
Academic Journal
Weng, Patricia L.; Majmundar, Amar J.; Khan, Kamal; Lim, Tze Y.; Shril, Shirlee; Jin, Gina; Musgrove, John; Wang, Minxian; Ahram, Dina F.; Aggarwal, Vimla S.; Bier, Louise E.; Heinzen, Erin L.; Onuchic-Whitford, Ana C.; Mann, Nina; Buerger, Florian; Schneider, Ronen; Deutsch, Konstantin; Kitzler, Thomas M.; Klambt, Verena; Kolb, Amy; Mao, Youying; El Achkar, Christelle Moufawad; Mitrotti, Adele; Martino, Jeremiah; Beck, Bodo B.; Altmuller, Janine; Benz, Marcus R.; Yano, Shoji; Mikati, Mohamad A.; Gunduz, Talha; Cope, Heidi; Shashi, Vandana; Trachtman, Howard; Bodria, Monica; Caridi, Gianluca; Pisani, Isabella; Fiaccadori, Enrico; AbuMaziad, Asmaa S.; Martinez-Agosto, Julian A.; Yadin, Ora; Zuckerman, Jonathan; Kim, Arang; John-Kroegel, Ulrike; Tyndall, Amanda, V; Parboosingh, Jillian S.; Innes, A. Micheil; Bierzynska, Agnieszka; Koziell, Ania B.; Muorah, Mordi; Saleem, Moin A.; Hoefele, Julia; Riedhammer, Korbinian M.; Gharavi, Ali G.; Jobanputra, Vaidehi; Pierce-Hoffman, Emma; Seaby, Eleanor G.; O'Donnell-Luria, Anne; Rehm, Heidi L.; Mane, Shrikant; D'Agati, Vivette D.; Pollak, Martin R.; Ghiggeri, Gian Marco; Lifton, Richard P.; Goldstein, David B.; Davis, Erica E.; Hildebrandt, Friedhelm; Sanna-Cherchi, Simone; Undiagnosed Dis Network; UCLA Clinical Genomics Ctr
Electronic Resource
Connaughton, D.M.; Dai, R.; Owen, D.J.; Marquez, J.; Mann, N.; Graham-Paquin, A.L.; Nakayama, M.; Coyaud, E.; Laurent, E.M.N.; St-Germain, J.R.; Snijders-Blok, L.; Vino, A.; Klämbt, V.; Deutsch, K.; Wu, C.H.W.; Kolvenbach, C.M.; Kause, F.; Ottlewski, I.; Schneider, R.; Kitzler, T.M.; Majmundar, A.J.; Buerger, F.; Onuchic-Whitford, A.C.; Youying, M.; Kolb, A.; Salmanullah, D.; Chen, E.; Ven, A.T. van der; Rao, J.; Ityel, H.; Seltzsam, S.; Rieke, J.M.; Chen, J.; Vivante, A.; Hwang, D.Y.; Kohl, S.; Dworschak, G.C.; Hermle, T.; Alders, M.; Bartolomaeus, T.; Bauer, S.T.; Baum, M.A.; Brilstra, E.H.; Challman, T.D.; Zyskind, J.; Costin, C.E.; Dipple, K.M.; Duijkers, F.A.; Ferguson, M.; Fitzpatrick, D.R.; Fick, R.; Glass, I.A.; Hulick, P.J.; Kline, A.D.; Krey, I.; Kumar, S.; Lu, W.; Marco, E.J.; Wentzensen, I.M.; Fisher, S.E.; Bouchard, M.; Khokha, M.K.; Shril, S.; Hildebrandt, F.
American Journal of Human Genetics; 727; 742; 0002-9297; 4; vol. 107; ~American Journal of Human Genetics~727~742~~~0002-9297~4~107~~
Electronic Resource
Massachusetts Institute of Technology. Institute for Medical Engineering & Science; Broad Institute of MIT and Harvard; Kaminski, Michael M.; Alcantar, Miguel A.; Lape, Isadora T.; Greensmith, Robert; Huske, Allison C.; Valeri, Jacqueline A.; Marty, Francisco M.; Klämbt, Verena; Azzi, Jamil; Akalin, Enver; Riella, Leonardo V.; Collins, James J.
Prof. Collins via Howard Silver
Academic Journal
Connaughton, Dervla M.; Dai, Rufeng; Owen, Danielle J.; Marquez, Jonathan; Mann, Nina; Graham-Paquin, Adda L.; Nakayama, Makiko; Coyaud, Etienne; Laurent, Estelle Mn; St-Germain, Jonathan R.; Blok, Lot Snijders; Vino, Arianna; Klambt, Verena; Deutsch, Konstantin; Wu, Chen-Han Wilfred; Kolvenbach, Caroline M.; Kause, Franziska; Ottlewski, Isabel; Schneider, Ronen; Kitzler, Thomas M.; Majmundar, Amar J.; Buerger, Florian; Onuchic-Whitford, Ana C.; Mao Youying; Kolb, Amy; Salmanullah, Daanya; Chen, Evan; van der Ven, Amelie T.; Rao, Jia; Ityel, Hadas; Seltzsam, Steve; Rieke, Johanna M.; Chen, Jing; Vivante, Asaf; Hwang, Daw-Yang; Kohl, Stefan; Dworschak, Gabriel C.; Hermle, Tobias; Alders, Marielle; Bartolomaeus, Tobias; Bauer, Stuart B.; Baum, Michelle A.; Brilstra, Eva H.; Challman, Thomas D.; Zyskind, Jacob; Costin, Carrie E.; Dipple, Katrina M.; Duijkers, Floor A.; Ferguson, Marcia; Fitzpatrick, David R.; Fick, Roger; Glass, Ian A.; Hulick, Peter J.; Kline, Antonie D.; Krey, Ilona; Kumar, Selvin; Lu, Weining; Marco, Elysa J.; Wentzensen, Ingrid M.; Mefford, Heather C.; Platzer, Konrad; Povolotskaya, Inna S.; Savatt, Juliann M.; Shcherbakova, Natalia, V; Senguttuvan, Prabha; Squire, Audrey E.; Stein, Deborah R.; Thiffault, Isabelle; Voinova, Victoria Y.; Somers, Michael J. G.; Ferguson, Michael A.; Traum, Avram Z.; Daouk, Ghaleb H.; Daga, Ankana; Rodig, Nancy M.; Terhal, Paulien A.; van Binsbergen, Ellen; Eid, Loai A.; Tasic, Velibor; Rasouly, Hila Milo; Lim, Tze Y.; Ahram, Dina F.; Gharavi, Ali G.; Reutter, Heiko M.; Rehm, Heidi L.; MacArthur, Daniel G.; Lek, Monkol; Laricchia, Kristen M.; Lifton, Richard P.; Xu, Hong; Mane, Shrikant M.; Sanna-Cherchi, Simone; Sharrocks, Andrew D.; Raught, Brian; Fisher, Simon E.; Bouchard, Maxime; Khokha, Mustafa K.; Shril, Shirlee; Hildebrandt, Friedhelm
Academic Journal
Seltzsam, S.; Wang, C.; Zheng, B.; Mann, N.; Connaughton, D.M.; Wu, C.-H.W.; Schneider, S.; Schierbaum, L.; Kause, F.; Kolvenbach, C.M.; Nakayama, M.; Dai, R.; Ottlewski, I.; Schneider, R.; Deutsch, K.; Buerger, F.; Klämbt, V.; Mao, Y.; Onuchic-Whitford, A.C.; Nicolas-Frank, C.; Yousef, K.; Pantel, D.; Lai, E.W.; Salmanullah, D.; Majmundar, A.J.; Rodig, N.M.; Somers, M.J.G.; Traum, A.Z.; Stein, D.R.; Daga, A.; Baum, M.A.; Daouk, G.H.; Shril, S.; Ferguson, M.A.; Hildebrandt, F.; Bauer, S.B.; Tasic, V.; Awad, H.S.; Eid, L.A.; El Desoky, S.; Shalaby, M.; Kari, J.A.; Fathy, H.M.; Soliman, N.A.; Mane, S.M.
In: Genetics in Medicine . (Genetics in Medicine, February 2022, 24(2):307-318)
Academic Journal
Vavassori, S.; Prader, S.; Planas, R.; Marchetti, T.; Koovely, D.; Pachlopnik Schmid, J.; Chou, J.; Almutairi, A.; Platt, C.D.; Elkins, M.; Weeks, S.; Geha, R.; Faletti, L.E.; Maccari, M.E.; Ehl, S.; Haunerdinger, V.; Güngör, T.; Opitz, L.; Joset, P.; Fraser, C.J.; Gao, X.; Schuch, L.A.; Forstner, M.; Griese, M.; Wagner, M.; Hoefele, J.; Zhu, Y.; Elakis, G.; Buckley, M.F.; Roscioli, T.; Gabbett, M.T.; Omran, H.; Kaiser, T.; Kessler, C.; Olbrich, H.; Frosk, P.; Rubin, T.; Klämbt, V.; Hildebrandt, F.; Soliman, N.A.; von Hardenberg, S.; Klemann, C.; Baumann, U.; Lenz, D.; Staufner, C.; Klein-Franke, A.; Schwemmle, M.; Huber, M.; Sturm, E.; Hartleif, S.; Häffner, K.; Gimpel, C.; Brotschi, B.; Laube, G.; Kottke, R.; Reu-Hofer, S.; Moll, S.; Weber, A.; Kaur, H.; Hiller, S.
In: Journal of Allergy and Clinical Immunology . (Journal of Allergy and Clinical Immunology, August 2021, 148(2):381-393)
Academic Journal
Mann, N.; Schneider, R.; Klämbt, V.; Lovric, S.; Mao, Y.; Tan, W.; Onuchic-Whitford, A.C.; Kitzler, T.M.; Kause, F.; Nakayama, M.; Buerger, F.; Shril, S.; van der Ven, A.T.; Majmundar, A.J.; Kolb, A.; Braun, D.A.; Rao, J.; Jobst-Schwan, T.; Hildebrandt, F.; Mzoughi, S.; Guccione, E.; Kühl, S.J.; Kühl, M.; Werberger, A.; Schanze, D.; Zenker, M.; Shi, S.; Kadlec, J.; Treimer, E.; Schumann, S.; Schmeisser, M.J.; Holton, K.M.; Mildenberger, E.; Lennert, T.; Kuechler, A.; Wieczorek, D.; Gross, O.; Ermisch-Omran, B.; Skalej, M.; Janecke, A.R.; Soliman, N.A.; Mane, S.M.; Lifton, R.P.
In: Journal of the American Society of Nephrology . (Journal of the American Society of Nephrology, March 2021, 32(3):580-596)
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