학술논문
'학술논문'
에서 검색결과 31건 | 목록
1~10
Academic Journal
Jil D. Stegmann; Jeshurun C. Kalanithy; Gabriel C. Dworschak; Nina Ishorst; Enrico Mingardo; Filipa M. Lopes; Yee Mang Ho; Phillip Grote; Tobias T. Lindenberg; Öznur Yilmaz; Khadija Channab; Steve Seltzsam; Shirlee Shril; Friedhelm Hildebrandt; Felix Boschann; André Heinen; Angad Jolly; Katherine Myers; Kim McBride; Mir Reza Bekheirnia; Nasim Bekheirnia; Marcello Scala; Manuela Morleo; Vincenzo Nigro; Annalaura Torella; TUDP consortium; Michele Pinelli; Valeria Capra; Andrea Accogli; Silvia Maitz; Alice Spano; Rory J. Olson; Eric W. Klee; Brendan C. Lanpher; Se Song Jang; Jong-Hee Chae; Philipp Steinbauer; Dietmar Rieder; Andreas R. Janecke; Julia Vodopiutz; Ida Vogel; Jenny Blechingberg; Jennifer L. Cohen; Kacie Riley; Victoria Klee; Laurence E. Walsh; Matthias Begemann; Miriam Elbracht; Thomas Eggermann; Arzu Stoppe; Kyra Stuurman; Marjon van Slegtenhorst; Tahsin Stefan Barakat; Maureen S. Mulhern; Tristan T. Sands; Cheryl Cytrynbaum; Rosanna Weksberg; Federica Isidori; Tommaso Pippucci; Giulia Severi; Francesca Montanari; Michael C. Kruer; Somayeh Bakhtiari; Hossein Darvish; Heiko Reutter; Gregor Hagelueken; Matthias Geyer; Adrian S. Woolf; Jennifer E. Posey; James R. Lupski; Benjamin Odermatt; Alina C. Hilger
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-12 (2024)
Academic Journal
Mingardo, E; Beaman, G; Grote, P; Nordenskjold, A; Newman, W; Woolf, AS; Eckstein, M; Hilger, AC; Dworschak, GC; Rosch, W; Ebert, AK; Stein, R; Brusco, A; Di Grazia, M; Tamer, A; Torres, FM; Hernandez, JL; Erben, P; Maj, C; Olmos, JM; Riancho, JA; Valero, C; Hostettler, IC; Houlden, H; Werring, DJ; Schumacher, J; Gehlen, J; Giel, AS; Buerfent, BC; Arkani, S; Akesson, E; Rotstein, E; Ludwig, M; Holmdahl, G; Giorgio, E; Berettini, A; Keene, D; Cervellione, RM; Younsi, N; Ortlieb, M; Oswald, J; Haid, B; Promm, M; Neissner, C; Hirsch, K; Stehr, M; Schafer, FM; Schmiedeke, E; Boemers, TM; van Rooij, IALM; Feitz, WFJ; Marcelis, CLM; Lacher, M; Nelson, J; Ure, B; Fortmann, C; Gale, DP; Chan, MMY; Ludwig, KU; Nothen, MM; Heilmann, S; Zwink, N; Jenetzky, E; Odermatt, B; Knapp, M; Reutter, H
Communications biology. 5(1):1203
Academic Journal
Stegmann, Jil D.; Kalanithy, Jeshurun C.; Dworschak, Gabriel C.; Ishorst, Nina; Mingardo, Enrico; Lopes, Filipa M.; Ho, Yee Mang; Grote, Phillip; Lindenberg, Tobias T.; Yilmaz, Öznur; Channab, Khadija; Seltzsam, Steve; Shril, Shirlee; Hildebrandt, Friedhelm; Boschann, Felix; Heinen, André; Jolly, Angad; Myers, Katherine; McBride, Kim; Bekheirnia, Mir Reza; Bekheirnia, Nasim; Scala, Marcello; Morleo, Manuela; Nigro, Vincenzo; Torella, Annalaura; Pinelli, Michele; Capra, Valeria; Accogli, Andrea; Maitz, Silvia; Spano, Alice; Olson, Rory J.; Klee, Eric W.; Lanpher, Brendan C.; Jang, Se Song; Chae, Jong-Hee; Steinbauer, Philipp; Rieder, Dietmar; Janecke, Andreas R.; Vodopiutz, Julia; Vogel, Ida; Blechingberg, Jenny; Cohen, Jennifer L.; Riley, Kacie; Klee, Victoria; Walsh, Laurence E.; Begemann, Matthias; Elbracht, Miriam; Eggermann, Thomas; Stoppe, Arzu; Stuurman, Kyra; van Slegtenhorst, Marjon; Barakat, Tahsin Stefan; Mulhern, Maureen S.; Sands, Tristan T.; Cytrynbaum, Cheryl; Weksberg, Rosanna; Isidori, Federica; Pippucci, Tommaso; Severi, Giulia; Montanari, Francesca; Kruer, Michael C.; Bakhtiari, Somayeh; Darvish, Hossein; Reutter, Heiko; Hagelueken, Gregor; Geyer, Matthias; Woolf, Adrian S.; Posey, Jennifer E.; Lupski, James R.; Odermatt, Benjamin; Hilger, Alina C.
npj Genomic Medicine. 9(1)
Academic Journal
Dworschak, Gabriel C.; Punetha, Jaya; Kalanithy, Jeshurun C.; Mingardo, Enrico; Erdem, Haktan B.; Akdemir, Zeynep C.; Karaca, Ender; Mitani, Tadahiro; Marafi, Dana; Fatih, Jawid M.; Jhangiani, Shalini N.; Hunter, Jill V.; Dakal, Tikam Chand; Dhabhai, Bhanupriya; Dabbagh, Omar; Alsaif, Hessa S.; Alkuraya, Fowzan S.; Maroofian, Reza; Houlden, Henry; Efthymiou, Stephanie; Dominik, Natalia; Salpietro, Vincenzo; Sultan, Tipu; Haider, Shahzad; Bibi, Farah; Thiele, Holger; Hoefele, Julia; Riedhammer, Korbinian M.; Wagner, Matias; Guella, Ilaria; Demos, Michelle; Keren, Boris; Buratti, Julien; Charles, Perrine; Nava, Caroline; Héron, Delphine; Heide, Solveig; Valkanas, Elise; Waddell, Leigh B.; Jones, Kristi J.; Oates, Emily C.; Cooper, Sandra T.; MacArthur, Daniel; Syrbe, Steffen; Ziegler, Andreas; Platzer, Konrad; Okur, Volkan; Chung, Wendy K.; O’Shea, Sarah A.; Alcalay, Roy; Fahn, Stanley; Mark, Paul R.; Guerrini, Renzo; Vetro, Annalisa; Hudson, Beth; Schnur, Rhonda E.; Hoganson, George E.; Burton, Jennifer E.; McEntagart, Meriel; Lindenberg, Tobias; Yilmaz, Öznur; Odermatt, Benjamin; Pehlivan, Davut; Posey, Jennifer E.; Lupski, James R.; Reutter, Heiko
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(9):1715-1725
Academic Journal
Köllges, R.; Stegmann, J.; Schneider, S.; Waffenschmidt, L.; Fazaal, J.; Breuer, K.; Ludwig, K.U.; Dworschak, G.C.; Mingardo, E.; Hilger, A.C.; Rösch, W.; Hofmann, A.; Neissner, C.; Ebert, A.-K.; Stein, R.; Younsi, N.; Hirsch-Koch, K.; Schmiedeke, E.; Zwink, N.; Jenetzky, E.; Thiele, H.; Reutter, H.
In: Biomolecules . (Biomolecules, July 2023, 13(7))
Academic Journal
Enders, M.; Weier, A.; Chunder, R.; An, Y.; Odermatt, B.; Kuerten, S.; Bremm, F.; Feigenspan, A.; Buettner, C.; Ekici, A.B.; Mingardo, E.
In: International Journal of Molecular Sciences . (International Journal of Molecular Sciences, February 2023, 24(4))
Academic Journal
Häberlein, F.; Merten, N.; Schulze Köhling, N.-K.; Simon, K.; Kostenis, E.; Gomeza, J.; Mingardo, E.; Reinoß, P.; Nagarajan, B.; Odermatt, B.; Japp, A.; Schrage, R.; Pegurier, C.; Gillard, M.; Monk, K.R.
In: Cell Chemical Biology . (Cell Chemical Biology, 20 October 2022, 29(10):1541-1555.e7)
Academic Journal
Nagarajan, B.; Häberlein, F.; Mingardo, E.; Kleinert, H.; Yilmaz, Ö.; Christ, A.; Eiberger, B.; Odermatt, B.; Harder, A.; Kubitscheck, U.; Japp, A.; Zoons, A.; Rau, B.; Hartmann, D.; Sandhoff, R.; Eckhardt, M.
In: GLIA . (GLIA, 1 March 2020, 68(3):509-527)
Academic Journal
Dworschak, G. C.; Punetha, J.; Kalanithy, J. C.; Mingardo, E.; Erdem, H. B.; Akdemir, Z. C.; Karaca, E.; Mitani, T.; Marafi, D.; Fatih, J. M.; Jhangiani, S. N.; Hunter, J. V.; Dakal, T.; Dhabhai, B.; Dabbagh, O.; Alsaif, H. S.; Alkuraya, F. S.; Maroofian, R.; Houlden, H.; Efthymiou, S.; Dominik, N.; Salpietro, V.; Sultan, T.; Haider, S.; Bibi, F.; Thiele, H.; Hoefele, J.; Riedhammer, K. M.; Wagner, M.; Guella, I.; Demos, M.; Keren, B.; Buratti, J.; Charles, P.; Nava, C.; Valkanas, E.; Waddell, L. B.; Jones, K. J.; Oates, E. C.; Cooper, S. T.; MacArthur, D.; Schnur, R. E.; Hoganson, G. E.; Burton, J. E.; McEntagart, M.; Pehlivan, D.; Posey, J. E.; Lupski, J. R.; Reutter, H.
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