학술논문
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'학술논문'
에서 검색결과 106건 | 목록
1~20
Academic Journal
Levine, Jesse M. ; Calame, Daniel G. ; Sangermano, Riccardo ; Du, Haowei ; Saad, Ahmed ; Lisfeld, Jasmin ; Bierhals, Tatjana ; Denecke, Jonas ; Uctepe, Eyyup ; Celik, Merve Yoldas ; Yesilyurt, Ahmet ; Yildiz Er, Hilal ; Yilmaz Gulec, Elif ; Mushiba, Aziza ; Almontashiri, Naif ; Gawlinski, Pawel ; Wiszniewski, Wojciech ; Karaca, Ender ; Alabdi, Lama ; Pehlivan, Davut ; Marafi, Dana ; Zaki, Maha S. ; Alkuraya, Fowzan S. ; Gleeson, Joseph G. ; Jhangiani, Shalini N. ; Gibbs, Richard A. ; Posey, Jennifer E. ; Bujakowska, Kinga M. ; Lupski, James R.
In The American Journal of Human Genetics 5 February 2026 113(2):362-379
Academic Journal
Loberti, Lorenzo ; Adamo, Loredaria ; Antolini, Enrica ; Casamassima, Giulia ; Destrèe, Anne ; Brunetti-Pierri, Nicola ; Genevieve, David ; Christophe, Philippe ; Coubes, Christine ; Van Esch, Hilde ; Herget, Theresia ; Kortüm, Fanny ; Lisfeld, Jasmin ; Möllring, Anna Charlotte ; Zenker, Martin ; Levy, Jonathan ; Perrin, Laurence ; Tabet, Anne-Claude ; Maruani, Anna ; Sorlin, Arthur ; Stieber, Daniel ; Herissant, Lucas ; Dahan, Karin ; Sinibaldi, Lorenzo ; Capolino, Rossella ; Dentici, Maria Lisa ; Dallapiccola, Bruno ; Novelli, Antonio ; Garavelli, Livia ; Caraffi, Stefano Giuseppe ; Piatelli, Gianluca ; Valenzuela, Irene ; Digilio, Maria Cristina ; Caumes, Roseline ; Knopp, Cordula ; Chwiałkowska, Karolina ; Jezela-Stanek, Aleksandra ; Kwasniewski, Miroslaw ; Korotko, Urszula ; Gorzałczyńska, Ewelina ; Canitano, Roberto ; Grosso, Salvatore ; Rahikkala, Elisa ; Mattern, Larissa ; Elbracht, Miriam ; Zuffardi, Orsetta ; Caputo, Valentina ; Toschi, Benedetta ; Beunders, Gea ; Leeuwen, Lisette ; Elting, Mariet W. ; van der Laan, Liselot ; Broekema, Marjoleine F. ; Groffen, Alexander J. ; van de Kamp, Jiddeke M. ; van Haelst, Mieke M. ; Alders, Marielle ; Mauro, Salvatore Pietro ; De Razza, Francesca ; Varvara, Dora ; Kick, Johanna ; Gaspar, Harald ; Braun, Dominique ; Lausberg, Eva ; Maier, Andrea ; Ruault, Valentin ; Genesio, Rita ; Tartaglia, Marco ; Tita, Rossella ; Bruttini, Mirella ; Longo, Ilaria ; Baldassarri, Margherita ; Mencarelli, Maria Antonietta ; Renieri, Alessandra ; Pinto, Anna Maria
In Genetics in Medicine June 2025 27(6)
Academic Journal
Schuy, Jakob ; Sæther, Kristine Bilgrav ; Lisfeld, Jasmin ; Ek, Marlene ; Grochowski, Christopher M. ; Lun, Ming Yin ; Hastie, Alex ; Rudolph, Susanne ; Fuchs, Sigrid ; Neveling, Kornelia ; Hempel, Maja ; Hoischen, Alexander ; Pettersson, Maria ; Carvalho, Claudia M.B. ; Eisfeldt, Jesper ; Lindstrand, Anna
In Genetics in Medicine Open 2024 2
Academic Journal
Salaverria, Itziar ; Martin-Guerrero, Idoia ; Wagener, Rabea ; Kreuz, Markus ; Kohler, Christian W. ; Richter, Julia ; Pienkowska-Grela, Barbara ; Adam, Patrick ; Burkhardt, Birgit ; Claviez, Alexander ; Damm-Welk, Christine ; Drexler, Hans G. ; Hummel, Michael ; Jaffe, Elaine S. ; Küppers, Ralf ; Lefebvre, Christine ; Lisfeld, Jasmin ; Löffler, Markus ; Macleod, Roderick A.F. ; Nagel, Inga ; Oschlies, Ilske ; Rosolowski, Maciej ; Russell, Robert B. ; Rymkiewicz, Grzegorz ; Schindler, Detlev ; Schlesner, Matthias ; Scholtysik, René ; Schwaenen, Carsten ; Spang, Rainer ; Szczepanowski, Monika ; Trümper, Lorenz ; Vater, Inga ; Wessendorf, Swen ; Klapper, Wolfram ; Siebert, Reiner
In Blood 20 February 2014 123(8):1187-1198
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
Kaschta, Daniel; Post, Christina; Gaass, Franziska; Al-Tawil, Milad; Arriens, Vincent; Balachandran, Saranya; Bäumer, Tobias; Berge, Valerie; Birgel, Friederike; Dalski, Andreas; Dittmar, Maike; Franke, Andre; Franzenburg, Sören; Fuß, Janina; Gehring, Bettina; Gembicki, Rebecca; Greiten, Bianca; Grohte, Kristin; Hanker, Britta; Händler, Kristian; Harder, Lana; Hellenbroich, Yorck; Herget, Theresia; Herrmann, Gloria; Hiort, Olaf; Hoff, Kirstin; Hoffmann, Birga; Hornig, Nadine; Hüning, Irina; Kautza-Lucht, Monika; Köhler, Juliane; Liegmann, Anna-Sophie; Lisfeld, Jasmin; Löscher, Britt-Sabina; Margraf, Nils G.; Meyenborg, Michelle; Möllring, Anna; Muhle, Hiltrud; Penas, Eva Maria Murga; Nommels, Henning; Papingi, Dzhoy; Poggenburg, Imke; Pozojevic, Jelena; Rosenstiel, Philip; Recke, Andreas; Roberts, Kimberly; Rösler, Laelia; Rust, Franka; Salewski, Maj-Britt; Schau-Römer, Katharina; Schlein, Christian; Sreenivasan, Varun K.A.; Toutouna, Louiza; Utermann-Thüsing, Caroline; van der Ven, Amelie T.; Volk, Alexander E.; Wehnert, Janne; Wilson, Sandra; Woitschach, Rixa; Yumiceba, Veronica; Zühlke, Christine; Münchau, Alexander; Brüggemann, Norbert; Vater, Inga; Caliebe, Almuth; Nagel, Inga; Spielmann, Malte
Genome Medicine. September 18, 2025, Vol. 17 Issue 1
Academic Journal
Die Onkologie: Organ der Deutschen Krebsgesellschaft e.V.. :1-6
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; Bhasin, 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. :1-2
Academic Journal
Neurogenetics; Jul2023, Vol. 24 Issue 3, p171-180, 10p
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
Neurogenetics; Apr2023, Vol. 24 Issue 2, p79-93, 15p
Academic Journal
Scholz, Tasja; Blohm, Martin Ernst; Kortüm, Fanny; Bierhals, Tatjana; Lessel, Davor; van der Ven, Amelie T.; Lisfeld, Jasmin
Neonatology. August 1, 2021, Vol. 118 Issue 4, p454, 8 p.
Academic Journal
Mio Aerden; Anne-Sophie Denommé-Pichon; Dominique Bonneau; Ange-Line Bruel; Julian Delanne; Bénédicte Gérard; Benoît Mazel; Christophe Philippe; Lucile Pinson; Clément Prouteau; Audrey Putoux; Frédéric Tran Mau-Them; Éléonore Viora-Dupont; Antonio Vitobello; Alban Ziegler; Amélie Piton; Bertrand Isidor; Christine Francannet; Pierre-Yves Maillard; Sophie Julia; Anais Philippe; Elise Schaefer; Saskia Koene; Claudia Ruivenkamp; Mariette Hoffer; Eric Legius; Miel Theunis; Boris Keren; Julien Buratti; Perrine Charles; Thomas Courtin; Mala Misra-Isrie; Mieke van Haelst; Quinten Waisfisz; Dagmar Wieczorek; Ariane Schmetz; Theresia Herget; Fanny Kortüm; Jasmin Lisfeld; François-Guillaume Debray; Nuria C. Bramswig; Isis Atallah; Heidi Fodstad; Guillaume Jouret; Berta Almoguera; Saoud Tahsin-Swafiri; Fernando Santos-Simarro; Maria Palomares-Bralo; Vanesa López-González; Maria Kibaek; Pernille M. Tørring; Alessandra Renieri; Lucia Pia Bruno; Katrin Õunap; Monica Wojcik; Tzung-Chien Hsieh; Peter Krawitz; Hilde Van Esch
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Aerden, M, Denommé-Pichon, A-S, Bonneau, D, Bruel, A-L, Delanne, J, Gérard, B N, Mazel, B, Philippe, C, Pinson, L, Prouteau, C, Putoux, A, Tran Mau-Them, F, Viora-Dupont, É, Vitobello, A, Ziegler, A, Piton, A, Isidor, B, Francannet, C, Maillard, P-Y, Julia, S, Philippe, A, Schaefer, E, Koene, S, Ruivenkamp, C, Hoffer, M, Legius, E, Theunis, M, Keren, B, Buratti, J, Charles, P, Courtin, T, Misra-Isrie, M, van Haelst, M, Waisfisz, Q, Wieczorek, D, Schmetz, A, Herget, T, Kortüm, F, Lisfeld, J, Debray, F-G, Bramswig, N C, Atallah, I, Fodstad, H, Jouret, G, Almoguera, B, Tahsin-Swafiri, S, Santos-Simarro, F, Palomares-Bralo, M, López-González, V, Kibaek, M, Tørring, P M, Renieri, A, Bruno, L P, Õunap, K, Wojcik, M, Hsieh, T-C, Krawitz, P & van Esch, H 2023, 'The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant', European Journal of Human Genetics, vol. 31, no. 4, pp. 461-468. https://doi.org/10.1038/s41431-023-01307-x
Consejería de Sanidad de la Comunidad de Madrid
Aerden, M, Denommé-Pichon, A-S, Bonneau, D, Bruel, A-L, Delanne, J, Gérard, B N, Mazel, B, Philippe, C, Pinson, L, Prouteau, C, Putoux, A, Tran Mau-Them, F, Viora-Dupont, É, Vitobello, A, Ziegler, A, Piton, A, Isidor, B, Francannet, C, Maillard, P-Y, Julia, S, Philippe, A, Schaefer, E, Koene, S, Ruivenkamp, C, Hoffer, M, Legius, E, Theunis, M, Keren, B, Buratti, J, Charles, P, Courtin, T, Misra-Isrie, M, van Haelst, M, Waisfisz, Q, Wieczorek, D, Schmetz, A, Herget, T, Kortüm, F, Lisfeld, J, Debray, F-G, Bramswig, N C, Atallah, I, Fodstad, H, Jouret, G, Almoguera, B, Tahsin-Swafiri, S, Santos-Simarro, F, Palomares-Bralo, M, López-González, V, Kibaek, M, Tørring, P M, Renieri, A, Bruno, L P, Õunap, K, Wojcik, M, Hsieh, T-C, Krawitz, P & van Esch, H 2023, 'The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant', European Journal of Human Genetics, vol. 31, no. 4, pp. 461-468. https://doi.org/10.1038/s41431-023-01307-x
Academic Journal
Holling, Tess; Lisfeld, Jasmin; Johannsen, Jessika; Matschke, Jakob; Song, Feizhi; Altmeppen, Hermann Clemens; Kutsche, Kerstin
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Radke, Josefine; Ishaque, Naveed; Koll, Randi; Gu, Zuguang; Schumann, Elisa; Sieverling, Lina; Uhrig, Sebastian; Hübschmann, Daniel; Toprak, Umut H.; López, Cristina; Hostench, Xavier Pastor; Borgoni, Simone; Juraeva, Dilafruz; Pritsch, Fabienne; Paramasivam, Nagarajan; Balasubramanian, Gnana Prakash; Schlesner, Matthias; Sahay, Shashwat; Weniger, Marc; Pehl, Debora; Radbruch, Helena; Osterloh, Anja; Korfel, Agnieszka; Misch, Martin; Onken, Julia; Faust, Katharina; Vajkoczy, Peter; Moskopp, Dag; Wang, Yawen; Jödicke, Andreas; Trümper, Lorenz; Anagnostopoulos, Ioannis; Lenze, Dido; Küppers, Ralf; Hummel, Michael; Schmitt, Clemens A.; Wiestler, Otmar D.; Wolf, Stephan; Unterberg, Andreas; Eils, Roland; Herold-Mende, Christel; Brors, Benedikt; Siebert, Reiner; Wagner, Susanne; Haake, Andrea; Richter, Julia; Richter, Gesine; Lawerenz, Chris; Eils, Jürgen; Kerssemakers, Jules; Jaeger-Schmidt, Christina; Scholz, Ingrid; Bergmann, Anke K.; Borst, Christoph; Braulke, Friederike; Burkhardt, Birgit; Claviez, Alexander; Dreyling, Martin; Eberth, Sonja; Einsele, Hermann; Frickhofen, Norbert; Haas, Siegfried; Hansmann, Martin-Leo; Karsch, Dennis; Klepl, Nicole; Kneba, Michael; Lisfeld, Jasmin; Mantovani-Löffler, Luisa; Rohde, Marius; Ott, German; Stadler, Christina; Staib, Peter; Stilgenbauer, Stephan; Zenz, Thorsten; Kube, Dieter; Klapper, Wolfram; Kostezka, Ulrike; Möller, Peter; Rosenwald, Andreas; Szczepanowski, Monika; Ammerpohl, Ole; Aukema, Sietse M.; Binder, Vera; Borkhardt, Arndt; Hoell, Jessica I.; Leich, Ellen; Lichter, Peter; Nagel, Inga; Pischimariov, Jordan; Radlwimmer, Bernhard; Rosenstiel, Philip; Schilhabel, Markus; Schreiber, Stefan; Vater, Inga; Wagener, Rabea; Bernhart, Stephan H.; Binder, Hans; Doose, Gero; Hoffmann, Steve; Hopp, Lydia; Kleinheinz, Kortine; Kretzmer, Helene; Kreuz, Markus; Korbel, Jan; Langenberger, David; Loeffler, Markus; Rosolowski, Maciej; Stadler, Peter F.; Sungalee, Stephanie; Wiemann, Stefan; Heppner, Frank L.; ICGC MMML-Seq Consortium; Coordination (C1); Data Center (C2); Clinical Centers (WP1); Normal Cells (WPN); Pathology and Analyte Preparation (WP2-3); Sequencing and genomics (WP4-7); Bioinformatics (WP8-9)
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Nature Communications 13(1), 2558 (2022). doi:10.1038/s41467-022-30050-y
Nature Communications, Vol 13, Iss 1, Pp 1-20 (2022)
Nature Communications 13(1), 2558 (2022). doi:10.1038/s41467-022-30050-y
Kaschta, Daniel; Post, Christina; Gaass, Franziska; Al-Tawil, Milad; Arriens, Vincent; Balachandran, Saranya; Bäumer, Tobias; Berge, Valerie; Birgel, Friederike; Dalski, Andreas; Dittmar, Maike; Franke, Andre; Franzenburg, Sören; Fuß, Janina; Gehring, Bettina; Gembicki, Rebecca; Greiten, Bianca; Grohte, Kristin; Hanker, Britta; Händler, Kristian; Harder, Lana; Hellenbroich, Yorck; Herget, Theresia; Herrmann, Gloria; Hiort, Olaf; Hoff, Kirstin; Hoffmann, Birga; Hornig, Nadine; Hüning, Irina; Kautza-Lucht, Monika; Köhler, Juliane; Liegmann, Anna-Sophie; Lisfeld, Jasmin; Löscher, Britt-Sabina; Margraf, Nils G.; Meyenborg, Michelle; Möllring, Anna; Muhle, Hiltrud; Penas, Eva Maria Murga; Nommels, Henning; Papingi, Dzhoy; Poggenburg, Imke; Pozojevic, Jelena; Rosenstiel, Philip; Recke, Andreas; Roberts, Kimberly; Rösler, Laelia; Rust, Franka; Salewski, Maj-Britt; Schau-Römer, Katharina; Schlein, Christian; Sreenivasan, Varun K.A.; Toutouna, Louiza; Utermann-Thüsing, Caroline; van der Ven, Amelie T.; Volk, Alexander E.; Wehnert, Janne; Wilson, Sandra; Woitschach, Rixa; Yumiceba, Veronica; Zühlke, Christine; Münchau, Alexander; Brüggemann, Norbert; Vater, Inga; Caliebe, Almuth; Nagel, Inga; Spielmann, Malte
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