학술논문
'학술논문'
에서 검색결과 91건 | 목록
1~10
Academic Journal
Schmidt, Axel; Danyel, Magdalena; Grundmann, Kathrin; Brunet, Theresa; Klinkhammer, Hannah; Hsieh, Tzung-Chien; Engels, Hartmut; Peters, Sophia; Knaus, Alexej; Moosa, Shahida; Averdunk, Luisa; Boschann, Felix; Sczakiel, Henrike Lisa; Schwartzmann, Sarina; Mensah, Martin Atta; Pantel, Jean Tori; Holtgrewe, Manuel; Bösch, Annemarie; Weiß, Claudia; Weinhold, Natalie; Suter, Aude-Annick; Stoltenburg, Corinna; Neugebauer, Julia; Kallinich, Tillmann; Kaindl, Angela M.; Holzhauer, Susanne; Bührer, Christoph; Bufler, Philip; Kornak, Uwe; Ott, Claus-Eric; Schülke, Markus; Nguyen, Hoa Huu Phuc; Hoffjan, Sabine; Grasemann, Corinna; Rothoeft, Tobias; Brinkmann, Folke; Matar, Nora; Sivalingam, Sugirthan; Perne, Claudia; Mangold, Elisabeth; Kreiss, Martina; Cremer, Kirsten; Betz, Regina C.; Mücke, Martin; Grigull, Lorenz; Klockgether, Thomas; Spier, Isabel; Heimbach, André; Bender, Tim; Brand, Fabian; Stieber, Christiane; Morawiec, Alexandra Marzena; Karakostas, Pantelis; Schäfer, Valentin S.; Bernsen, Sarah; Weydt, Patrick; Castro-Gomez, Sergio; Aziz, Ahmad; Grobe-Einsler, Marcus; Kimmich, Okka; Kobeleva, Xenia; Önder, Demet; Lesmann, Hellen; Kumar, Sheetal; Tacik, Pawel; Basin, Meghna Ahuja; Incardona, Pietro; Lee-Kirsch, Min Ae; Berner, Reinhard; Schuetz, Catharina; Körholz, Julia; Kretschmer, Tanita; Di Donato, Nataliya; Schröck, Evelin; Heinen, André; Reuner, Ulrike; Hanßke, Amalia-Mihaela; Kaiser, Frank J.; Manka, Eva; Munteanu, Martin; Kuechler, Alma; Cordula, Kiewert; Hirtz, Raphael; Schlapakow, Elena; Schlein, Christian; Lisfeld, Jasmin; Kubisch, Christian; Herget, Theresia; Hempel, Maja; Weiler-Normann, Christina; Ullrich, Kurt; Schramm, Christoph; Rudolph, Cornelia; Rillig, Franziska; Groffmann, Maximilian; Muntau, Ania; Tibelius, Alexandra; Schwaibold, Eva M. C.; Schaaf, Christian P.; Zawada, Michal; Kaufmann, Lilian; Hinderhofer, Katrin; Okun, Pamela M.; Kotzaeridou, Urania; Hoffmann, Georg F.; Choukair, Daniela; Bettendorf, Markus; Spielmann, Malte; Ripke, Annekatrin; Pauly, Martje; Münchau, Alexander; Lohmann, Katja; Hüning, Irina; Hanker, Britta; Bäumer, Tobias; Herzog, Rebecca; Hellenbroich, Yorck; Westphal, Dominik S.; Strom, Tim; Kovacs, Reka; Riedhammer, Korbinian M.; Mayerhanser, Katharina; Graf, Elisabeth; Brugger, Melanie; Hoefele, Julia; Oexle, Konrad; Mirza-Schreiber, Nazanin; Berutti, Riccardo; Schatz, Ulrich; Krenn, Martin; Makowski, Christine; Weigand, Heike; Schröder, Sebastian; Rohlfs, Meino; Vill, Katharina; Hauck, Fabian; Borggraefe, Ingo; Müller-Felber, Wolfgang; Kurth, Ingo; Elbracht, Miriam; Knopp, Cordula; Begemann, Matthias; Kraft, Florian; Lemke, Johannes R.; Hentschel, Julia; Platzer, Konrad; Strehlow, Vincent; Abou Jamra, Rami; Kehrer, Martin; Demidov, German; Beck-Wödl, Stefanie; Graessner, Holm; Sturm, Marc; Zeltner, Lena; Schöls, Ludger J.; Magg, Janine; Bevot, Andrea; Kehrer, Christiane; Kaiser, Nadja; Turro, Ernest; Horn, Denise; Grüters-Kieslich, Annette; Klein, Christoph; Mundlos, Stefan; Nöthen, Markus; Riess, Olaf; Meitinger, Thomas; Krude, Heiko; Krawitz, Peter M.; Haack, Tobias; Ehmke, Nadja; Wagner, Matias
Nature Genetics. 56(8):1644-1653
Academic Journal
Caron, Véronique; Chassaing, Nicolas; Ragge, Nicola; Boschann, Felix; Ngu, Angelina My-Hoa; Meloche, Elisabeth; Chorfi, Sarah; Lakhani, Saquib A; Ji, Weizhen; Steiner, Laurie; Marcadier, Julien; Jansen, Philip R; van de Pol, Laura A; van Hagen, Johanna M; Russi, Alvaro Serrano; Le Guyader, Gwenaël; Nordenskjöld, Magnus; Nordgren, Ann; Anderlid, Britt-Marie; Plaisancié, Julie; Stoltenburg, Corinna; Horn, Denise; Drenckhahn, Anne; Hamdan, Fadi F; Lefebvre, Mathilde; Attie-Bitach, Tania; Forey, Peggy; Smirnov, Vasily; Ernould, Françoise; Jacquemont, Marie-Line; Grotto, Sarah; Alcantud, Alberto; Coret, Alicia; Ferrer-Avargues, Rosario; Srivastava, Siddharth; Vincent-Delorme, Catherine; Romoser, Shelby; Safina, Nicole; Saade, Dimah; Lupski, James R; Calame, Daniel G; Geneviève, David; Chatron, Nicolas; Schluth-Bolard, Caroline; Myers, Kenneth A; Dobyns, William B; Calvas, Patrick; Study, The DDD; Salmon, Caroline; Holt, Richard; Elmslie, Frances; Allaire, Marc; Prigozhin, Daniil M; Tremblay, André; Michaud, Jacques L
Genetics in Medicine. 25(8)
Academic Journal
Boschann, Felix; Fischer-Zirnsak, Björn; Wienker, Thomas F.; Holtgrewe, Manuel; Seelow, Dominik; Eichhorn, Birgit; Döhnert, Steffi; Fahsold, Raimund; Horn, Denise; Graul-Neumann, Luitgard M.
In European Journal of Medical Genetics September 2020 63(9)
Academic Journal
Ferretti, A.; Parisi, P.; Gardella, E.; Furlan, M.; Fenger, C.D.; Furia, F.; Rubboli, G.; Møller, R.S.; Glinton, K.E.; Yang, Y.; Stankiewicz, P.; Boschann, F.; Amlie-Wolf, L.; Gripp, K.W.; Zeidler, S.; Moretti, R.; Mignot, C.; Stoltenburg, C.; Tarquinio, D.C.; Devinsky, O.
In: Pediatric Neurology . (Pediatric Neurology, September 2024, 158:17-25)
Academic Journal
Stegmann, J.D.; Kalanithy, J.C.; Dworschak, G.C.; Ishorst, N.; Reutter, H.; Mingardo, E.; Channab, K.; Odermatt, B.; Lindenberg, T.T.; Yilmaz, Ö.; Lopes, F.M.; Ho, Y.M.; Woolf, A.S.; Grote, P.; Seltzsam, S.; Shril, S.; Hildebrandt, F.; Boschann, F.; Heinen, A.; Jolly, A.; Bekheirnia, M.R.; Posey, J.E.; Lupski, J.R.; Myers, K.; McBride, K.; Bekheirnia, N.; Scala, M.; Morleo, M.; Nigro, V.; Torella, A.; Pinelli, M.; Capra, V.; Accogli, A.; Maitz, S.; Spano, A.; Olson, R.J.; Klee, E.W.; Lanpher, B.C.; Jang, S.S.; Chae, J.-H.; Steinbauer, P.; Rieder, D.; Janecke, A.R.; Vodopiutz, J.; Vogel, I.; Blechingberg, J.; Cohen, J.L.; Riley, K.; Klee, V.; Walsh, L.E.; Begemann, M.; Elbracht, M.; Eggermann, T.; Stoppe, A.; Stuurman, K.; van Slegtenhorst, M.; Barakat, T.S.; Mulhern, M.S.; Sands, T.T.; Cytrynbaum, C.; Weksberg, R.; Isidori, F.; Pippucci, T.; Severi, G.; Montanari, F.; Kruer, M.C.; Bakhtiari, S.; Darvish, H.; Hagelueken, G.; Geyer, M.; Hilger, A.C.
In: npj Genomic Medicine . (npj Genomic Medicine, December 2024, 9(1))
Academic Journal
Koparir, A.; Lekszas, C.; Rose, T.; Rappl, L.; Klopocki, E.; Haaf, T.; Liedtke, D.; Keseroglu, K.; Özbudak, E.M.; Rad, A.; Maroofian, R.; Narendran, N.; Hasanzadeh, A.; Karimiani, E.G.; Boschann, F.; Kornak, U.; Vona, B.
In: Human Genomics . (Human Genomics, December 2024, 18(1))
Academic Journal
Hramyka, D.; Zhao, M.X.; Stolpe, O.; Nieminen, M.; Beule, D.; Metushi, I.G.; Sczakiel, H.L.; Adam, R.; Danyel, M.; Einicke, L.; Hägerling, R.; Mundlos, S.; Schwartzmann, S.; Seelow, D.; Ehmke, N.; Mensah, M.A.; Boschann, F.; Knaus, A.
In: Nucleic Acids Research . (Nucleic Acids Research, 5 July 2024, 52(W1):W148-W158)
RNA analysis and computer-aided facial phenotyping help to classify a novel TRIO splice site variant
Academic Journal
Schwartzmann, S.; Zhao, M.; Sczakiel, H.L.; Hildebrand, G.; Ehmke, N.; Horn, D.; Mensah, M.A.; Boschann, F.
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, July 2024, 194(7))
Academic Journal
Sczakiel, H.L.; Zhao, M.; Danyel, M.; Ehmke, N.; Seelow, D.; Horn, D.; Boschann, F.; Wollert-Wulf, B.; Janz, M.; Stoltenburg, C.; Damseh, N.; Al-Ashhab, M.; Balci, T.B.; Osmond, M.; Andrade, A.; Schallner, J.; Porrmann, J.; McDonald, K.; Liao, M.; Oppermann, H.; Platzer, K.; Dierksen, N.; Mojarrad, M.; Eslahi, A.; Bakaeean, B.; Calame, D.G.; Lupski, J.R.; Firoozfar, Z.; Seyedhassani, S.M.; Mohammadi, S.A.; Anwaar, N.; Rahman, F.; Maroofian, R.
In: European Journal of Human Genetics . (European Journal of Human Genetics, August 2023, 31(8):905-917)
Academic Journal
Becker, L.-L.; Prager, C.; Kaindl, A.M.; Horn, D.; Boschann, F.; Van Hoeymissen, E.; Voets, T.; Vriens, J.
In: Epilepsia . (Epilepsia, May 2023, 64(5):e61-e68)
검색 결과 제한하기
제한된 항목
[Author] Boschann F
발행연도 제한
-
학술DB(Database Provider)
저널명(출판물, Title)
출판사(Publisher)
자료유형(Source Type)
주제어
언어