학술논문
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'학술논문'
에서 검색결과 156건 | 목록
1~20
Academic Journal
Luise Kessler; Jeremias Krause; Florian Kraft; Asmaa K. Amin; Gyorgy Fekete; Anna Lengyel; Eva Pinti; Arpad Kovacs; Annette Lischka; Katja Eggermann; Ingo Kurth; Cordula Knopp; Miriam Elbracht; Matthias Begemann; Thomas Eggermann
Clin Genet
Clinical genetics 107(3), 241-370 (2024). doi:10.1111/cge.14649
Clinical genetics 107(3), 241-370 (2024). doi:10.1111/cge.14649
Academic Journal
Nava, Caroline; Cogne, Benjamin; Santini, Amandine; Leitão, Elsa; Lecoquierre, François; Chen, Yuyang; Stenton, Sarah L.; Besnard, Thomas; Heide, Solveig; Baer, Sarah; Jakhar, Abhilasha; Neuser, Sonja; Keren, Boris; Faudet, Anne; Forlani, Sylvie; Faoucher, Marie; Uguen, Kevin; Platzer, Konrad; Afenjar, Alexandra; Alessandri, Jean-Luc; Andres, Stephanie; Angelini, Chloé; Aral, Bernard; Arveiler, Benoit; Attie-Bitach, Tania; Aubert Mucca, Marion; Banneau, Guillaume; Barakat, Tahsin Stefan; Barcia, Giulia; Baulac, Stéphanie; Beneteau, Claire; Benkerdou, Fouzia; Bernard, Virginie; Bézieau, Stéphane; Bonneau, Dominique; Bonnet-Dupeyron, Marie-Noelle; Boussion, Simon; Boute, Odile; Brischoux-Boucher, Elise; Bryen, Samantha J.; Buratti, Julien; Busa, Tiffany; Caliebe, Almuth; Capri, Yline; Cassinari, Kévin; Caumes, Roseline; Cenni, Camille; Chambon, Pascal; Charles, Perrine; Christodoulou, John; Colson, Cindy; Conrad, Solène; Cospain, Auriane; Coursimault, Juliette; Courtin, Thomas; Couse, Madeline; Coutton, Charles; Creveaux, Isabelle; D’Gama, Alissa M.; Dauriat, Benjamin; de Sainte Agathe, Jean-Madeleine; Del Gobbo, Giulia; Delahaye-Duriez, Andrée; Delanne, Julian; Denommé-Pichon, Anne-Sophie; Dieux-Coeslier, Anne; Do Souto Ferreira, Laura; Doco-Fenzy, Martine; Drukewitz, Stephan; Duboc, Véronique; Dubourg, Christèle; Duffourd, Yannis; Dyment, David; El Chehadeh, Salima; Elmaleh, Monique; Faivre, Laurence; Fennelly, Samuel; Fischer, Hanna; Fradin, Mélanie; Galludec Vaillant, Camille; Ganne, Benjamin; Ghoumid, Jamal; Goel, Himanshu; Gokce-Samar, Zeynep; Goldenberg, Alice; Gonfreville Robert, Romain; Gorokhova, Svetlana; Goujon, Louise; Granier, Victoria; Gras, Mathilde; Greally, John M.; Greiten, Bianca; Gueguen, Paul; Guerrot, Anne-Marie; Guha, Saurav; Guimier, Anne; Haack, Tobias B.; Hadj Abdallah, Hamza; Halleb, Yosra; Harbuz, Radu; Harris, Madeleine; Hentschel, Julia; Héron, Bénédicte; Hitz, Marc-Phillip; Innes, A. Micheil; Jadas, Vincent; Januel, Louis; Jean-Marçais, Nolwenn; Jobanputra, Vaidehi; Jobic, Florence; Jornea, Ludmila; Jost, Céline; Julia, Sophie; Kaiser, Frank J.; Kaschta, Daniel; Kaya, Sabine; Ketteler, Petra; Khadija, Bochra; Kilpert, Fabian; Knopp, Cordula; Kraft, Florian; Krey, Ilona; Lackmy, Marilyn; Laffargue, Fanny; Lambert, Laetitia; Lamont, Ryan; Laugel, Vincent; Laurie, Steven; Lauzon, Julie L.; Lebreton, Louis; Lebrun, Marine; Legendre, Marine; Leguern, Eric; Lehalle, Daphné; Lejeune, Elodie; Lesca, Gaetan; Lesieur-Sebellin, Marion; Levy, Jonathan; Linglart, Agnès; Lyonnet, Stanislas; Lüthy, Kevin; Ma, Alan S.; Mach, Corinne; Mandel, Jean-Louis; Mansour-Hendili, Lamisse; Marcadier, Julien; Marin, Victor; Margot, Henri; Marquet, Valentine; May, Angèle; Mayr, Johannes A.; Meridda, Catherine; Michaud, Vincent; Michot, Caroline; Nadeau, Gwenael; Naudion, Sophie; Nguyen, Laetitia; Nizon, Mathilde; Nowak, Frédérique; Odent, Sylvie; Olin, Valerie; Osei-Owusu, Ikeoluwa A.; Osmond, Matthew; Õunap, Katrin; Pasquier, Laurent; Passemard, Sandrine; Pauly, Melissa; Patat, Olivier; Pensec, Marine; Perrin-Sabourin, Laurence; Petit, Florence; Philippe, Christophe; Planes, Marc; Poduri, Annapurna; Poirsier, Céline; Pouzet, Antoine; Prince, Bradley; Prouteau, Clément; Pujol, Aurora; Racine, Caroline; Rama, Mélanie; Ramond, Francis; Ranguin, Kara; Raway, Margaux; Reis, André; Renaud, Mathilde; Revencu, Nicole; Richard, Anne-Claire; Riera-Navarro, Lucile; Rius, Rocio; Rodriguez, Diana; Rodriguez-Palmero, Agustí; Rondeau, Sophie; Roser-Unruh, Annika; Rougeot Jung, Christelle; Safraou, Hana; Satre, Véronique; Saugier-Veber, Pascale; Sauvestre, Clément; Schaefer, Elise; Shao, Wanqing; Schanze, Ina; Schlump, Jan-Ulrich; Schlüter Martin, Agatha; Schluth-Bolard, Caroline; Schuhmann, Sarah; Schröder, Christopher; Sebastin, Monisha; Sigaudy, Sabine; Spielmann, Malte; Spodenkiewicz, Marta; St Clair, Laura; Steffann, Julie; Stoeva, Radka; Surowy, Harald; Tarnopolsky, Mark A.; Todosi, Calina; Toutain, Annick; Tran Mau-Them, Frédéric; Unterlauft, Astrid; Van-Gils, Julien; Vanlerberghe, Clémence; Vasileiou, Georgia; Vera, Gabriella; Verdel, André; Verloes, Alain; Vial, Yoann; Vignal, Cédric; Vincent, Marie; Vincent-Delorme, Catherine; Vincent-Devulder, Aline; Vitobello, Antonio; Weber, Sacha; Willems, Marjolaine; Zaafrane-Khachnaoui, Khaoula; Zacher, Pia; Zeltner, Lena; Ziegler, Alban; Galej, Wojciech P.; Dollfus, Hélène; Thauvin, Christel; Boycott, Kym M.; Marijon, Pierre; Lermine, Alban; Malan, Valérie; Rio, Marlène; Kuechler, Alma; Isidor, Bertrand; Drunat, Séverine; Smol, Thomas; Chatron, Nicolas; Piton, Amélie; Nicolas, Gael; Wagner, Matias; Abou Jamra, Rami; Héron, Delphine; Mignot, Cyril; Blanc, Pierre; O’Donnell-Luria, Anne; Whiffin, Nicola; Charbonnier, Camille; Charenton, Clément; Thevenon, Julien; Depienne, Christel
Nature Genetics. :1-15
Academic Journal
Hedberg-Oldfors, Carola; Meyer, Robert; Nolte, Kay; Abdul Rahim, Yassir; Lindberg, Christopher; Karason, Kristjan; Thuestad, Inger Johanne; Visuttijai, Kittichate; Geijer, Mats; Begemann, Matthias; Kraft, Florian; Lausberg, Eva; Hitpass, Lea; Götzl, Rebekka; Luna, Elizabeth J.; Lochmüller, Hanns; Koschmieder, Steffen; Gramlich, Michael; Gess, Burkhard; Elbracht, Miriam; Weis, Joachim; Kurth, Ingo; Oldfors, Anders; Knopp, Cordula
Brain : a journal of neurology. 143(8):2406-2420
Academic Journal
Florian Kraft; Piere Rodriguez-Aliaga; Weimin Yuan; Lena Franken; Kamil Zajt; Dimah Hasan; Ting-Ting Lee; Elisabetta Flex; Andreas Hentschel; A. Micheil Innes; Bixia Zheng; Dong Sun Julia Suh; Cordula Knopp; Eva Lausberg; Jeremias Krause; Xiaomeng Zhang; Pamela Trapane; Riley Carroll; Martin McClatchey; Andrew E. Fry; Lisa Wang; Sebastian Giesselmann; Hieu Hoang; Dustin Baldridge; Gary A. Silverman; Francesca Clementina Radio; Enrico Bertini; Andrea Ciolfi; Katherine A Blood; Jean-Madeleine de Sainte Agathe; Perrine Charles; Gaber Bergant; Goran Čuturilo; Borut Peterlin; Karin Diderich; Haley Streff; Laurie Robak; Renske Oegema; Ellen van Binsbergen; John Herriges; Carol J. Saunders; Andrea Maier; Stefan Wolking; Yvonne Weber; Hanns Lochmüller; Stefanie Meyer; Alberto Aleman; Kiran Polavarapu; Gael Nicolas; Alice Goldenberg; Lucie Guyant; Kathleen Pope; Katherine N. Hehmeyer; Kristin G. Monaghan; Annegret Quade; Thomas Smol; Roseline Caumes; Sarah Duerinckx; Chantal Depondt; Wim Van Paesschen; Claudine Rieubland; Claudia Poloni; Michel Guipponi; Severine Arcioni; Marije Meuwissen; Anna C. Jansen; Jessica Rosenblum; Tobias B. Haack; Miriam Bertrand; Lea Gerstner; Janine Magg; Olaf Riess; Jörg B. Schulz; Norbert Wagner; Martin Wiesmann; Joachim Weis; Thomas Eggermann; Matthias Begemann; Andreas Roos; Martin Häusler; Tim Schedl; Marco Tartaglia; Juliane Bremer; Stephen C. Pak; Judith Frydman; Miriam Elbracht; Ingo Kurth
Science
Academic Journal
Axel Schmidt; Magdalena Danyel; Kathrin Grundmann; Theresa Brunet; Hannah Klinkhammer; Tzung-Chien Hsieh; Hartmut Engels; Sophia Peters; Alexej Knaus; Shahida Moosa; Luisa Averdunk; Felix Boschann; Henrike Lisa Sczakiel; Sarina Schwartzmann; Martin Atta Mensah; Jean Tori Pantel; Manuel Holtgrewe; Annemarie Bösch; Claudia Weiß; Natalie Weinhold; Aude-Annick Suter; Corinna Stoltenburg; Julia Neugebauer; Tillmann Kallinich; Angela M. Kaindl; Susanne Holzhauer; Christoph Bührer; Philip Bufler; Uwe Kornak; Claus-Eric Ott; Markus Schülke; Hoa Huu Phuc Nguyen; Sabine Hoffjan; Corinna Grasemann; Tobias Rothoeft; Folke Brinkmann; Nora Matar; Sugirthan Sivalingam; Claudia Perne; Elisabeth Mangold; Martina Kreiss; Kirsten Cremer; Regina C. Betz; Martin Mücke; Lorenz Grigull; Thomas Klockgether; Isabel Spier; André Heimbach; Tim Bender; Fabian Brand; Christiane Stieber; Alexandra Marzena Morawiec; Pantelis Karakostas; Valentin S. Schäfer; Sarah Bernsen; Patrick Weydt; Sergio Castro-Gomez; Ahmad Aziz; Marcus Grobe-Einsler; Okka Kimmich; Xenia Kobeleva; Demet Önder; Hellen Lesmann; Sheetal Kumar; Pawel Tacik; Meghna Ahuja Bhasin; Pietro Incardona; Min Ae Lee-Kirsch; Reinhard Berner; Catharina Schuetz; Julia Körholz; Tanita Kretschmer; Nataliya Di Donato; Evelin Schröck; André Heinen; Ulrike Reuner; Amalia-Mihaela Hanßke; Frank J. Kaiser; Eva Manka; Martin Munteanu; Alma Kuechler; Kiewert Cordula; Raphael Hirtz; Elena Schlapakow; Christian Schlein; Jasmin Lisfeld; Christian Kubisch; Theresia Herget; Maja Hempel; Christina Weiler-Normann; Kurt Ullrich; Christoph Schramm; Cornelia Rudolph; Franziska Rillig; Maximilian Groffmann; Ania Muntau; Alexandra Tibelius; Eva M. C. Schwaibold; Christian P. Schaaf; Michal Zawada; Lilian Kaufmann; Katrin Hinderhofer; Pamela M. Okun; Urania Kotzaeridou; Georg F. Hoffmann; Daniela Choukair; Markus Bettendorf; Malte Spielmann; Annekatrin Ripke; Martje Pauly; Alexander Münchau; Katja Lohmann; Irina Hüning; Britta Hanker; Tobias Bäumer; Rebecca Herzog; Yorck Hellenbroich; Dominik S. Westphal; Tim Strom; Reka Kovacs; Korbinian M. Riedhammer; Katharina Mayerhanser; Elisabeth Graf; Melanie Brugger; Julia Hoefele; Konrad Oexle; Nazanin Mirza-Schreiber; Riccardo Berutti; Ulrich Schatz; Martin Krenn; Christine Makowski; Heike Weigand; Sebastian Schröder; Meino Rohlfs; Katharina Vill; Fabian Hauck; Ingo Borggraefe; Wolfgang Müller-Felber; Ingo Kurth; Miriam Elbracht; Cordula Knopp; Matthias Begemann; Florian Kraft; Johannes R. Lemke; Julia Hentschel; Konrad Platzer; Vincent Strehlow; Rami Abou Jamra; Martin Kehrer; German Demidov; Stefanie Beck-Wödl; Holm Graessner; Marc Sturm; Lena Zeltner; Ludger J. Schöls; Janine Magg; Andrea Bevot; Christiane Kehrer; Nadja Kaiser; Ernest Turro; Denise Horn; Annette Grüters-Kieslich; Christoph Klein; Stefan Mundlos; Markus Nöthen; Olaf Riess; Thomas Meitinger; Heiko Krude; Peter M. Krawitz; Tobias Haack; Nadja Ehmke; Matias Wagner
Nat Genet
Nat. Genet., DOI: 10.1038/s41588-024-01836-1 (2024)
Nat. Genet., DOI: 10.1038/s41588-024-01836-1 (2024)
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
Kimberley Jade Anderson; Eirny Tholl Thorolfsdottir; Ilana M. Nodelman; Sara Tholl Halldorsdottir; Stefania Benonisdottir; Malak Alghamdi; Naif Almontashiri; Brenda J. Barry; Matthias Begemann; Jacquelyn F. Britton; Sarah Burke; Benjamin Cogne; Ana S.A. Cohen; Carles de Diego Boguñá; Evan E. Eichler; Elizabeth C. Engle; Jill A. Fahrner; Laurence Faivre; Mélanie Fradin; Nico Fuhrmann; Christine W. Gao; Gunjan Garg; Dagmar Grečmalová; Mina Grippa; Jacqueline R. Harris; Kendra Hoekzema; Tova Hershkovitz; Sydney Hubbard; Katrien Janssens; Julie A. Jurgens; Stanislav Kmoch; Cordula Knopp; Meral Aktas Koptagel; Farah A. Ladha; Pablo Lapunzina; Tobias Lindau; Marije Meuwissen; Andreina Minicucci; Emily Neuhaus; Mathilde Nizon; Lenka Nosková; Kristen Park; Chirag Patel; Rolph Pfundt; Pankaj Prasun; Nils Rahner; Nathaniel H. Robin; Carey Ronspies; Jasmin Roohi; Jill Rosenfeld; Margarita Saenz; Carol Saunders; Zornitza Stark; Isabelle Thiffault; Sarah Thull; Danita Velasco; Clara Velmans; Jolijn Verseput; Antonio Vitobello; Tianyun Wang; Karin Weiss; Ingrid M. Wentzensen; Genay Pilarowski; Thor Eysteinsson; Madelyn Gillentine; Kári Stefánsson; Agnar Helgason; Gregory D. Bowman; Hans Tomas Bjornsson
medRxiv
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
Maimuna S. Paul; Sydney L. Michener; Hongling Pan; Hiuling Chan; Jessica M. Pfliger; Jill A. Rosenfeld; Vanesa C. Lerma; Alyssa Tran; Megan A. Longley; Richard A. Lewis; Monika Weisz-Hubshman; Mir Reza Bekheirnia; Nasim Bekheirnia; Lauren Massingham; Michael Zech; Matias Wagner; Hartmut Engels; Kirsten Cremer; Elisabeth Mangold; Sophia Peters; Jessica Trautmann; Claudia Perne; Jessica L. Mester; Maria J. Guillen Sacoto; Richard Person; Pamela P. McDonnell; Stacey R. Cohen; Laina Lusk; Ana S.A. Cohen; Jean-Baptiste Le Pichon; Tomi Pastinen; Dihong Zhou; Kendra Engleman; Caroline Racine; Laurence Faivre; Sébastien Moutton; Anne-Sophie Denommé-Pichon; Hyun Yong Koh; Annapurna Poduri; Jeffrey Bolton; Cordula Knopp; Dong Sun Julia Suh; Andrea Maier; Mehran Beiraghi Toosi; Ehsan Ghayoor Karimiani; Reza Maroofian; Gerald Bradley Schaefer; Vijayalakshmi Ramakumaran; Pradeep Vasudevan; Benito Banos-Pinero; Alistair T. Pagnamenta; Chitra Prasad; Matthew Osmond; Sarah Schuhmann; Georgia Vasileiou; Sophie Russ-Hall; Ingrid E. Scheffer; Gemma L. Carvill; Heather Mefford; Maria T. Acosta; Margaret Adam; David R. Adams; Raquel L. Alvarez; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A. Ashley; Carlos A. Bacino; Guney Bademci; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Hugo J. Bellen; Jimmy Bennett; Beverly Berg-Rood; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Devon Bonner; Lorenzo Botto; Brenna Boyd; Lauren C. Briere; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Thomas Cassini; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao-Tuan Chao; Ivan Chinn; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. 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Am. J. Hum. Genet. 111, 96-118 (2024)
Academic Journal
Pfeifer, Mateja; Rehder, Helga; Gerykova Bujalkova, Maria; Bartsch, Christine; Fritz, Barbara; Knopp, Cordula; Beckers, Björn; Dohle, Frank; Meyer-Wittkopf, Matthias; Axt-Fliedner, Roland; Beribisky, Alexander V.; Hofer, Manuel; Laccone, Franco; Schoner, Katharina
Orphanet Journal of Rare Diseases. 19(1)
Academic Journal
Schmetz, Ariane; Lüdecke, Hermann-Josef; Surowy, Harald; Sivalingam, Sugirtahn; Bruel, Ange-Line; Caumes, Roseline; Charles, Perrine; Chatron, Nicolas; Chrzanowska, Krystyna; Codina-Solà, Marta; Colson, Cindy; Cuscó, Ivon; Denommé-Pichon, Anne-Sophie; Edery, Patrick; Faivre, Laurence; Green, Andrew; Heide, Solveig; Hsieh, Tzung-Chien; Hustinx, Alexander; Kleinendorst, Lotte; Knopp, Cordula; Kraft, Florian; Krawitz, Peter M.; Lasa-Aranzasti, Amaia; Lesca, Gaetan; López-González, Vanesa; Maraval, Julien; Mignot, Cyril; Neuhann, Teresa; Netzer, Christian; Oehl-Jaschkowitz, Barbara; Petit, Florence; Philippe, Christophe; Posmyk, Renata; Putoux, Audrey; Reis, André; Sánchez-Soler, María José; Suh, Julia; Tkemaladze, Tinatin; Tran Mau Them, Frédéric; Travessa, André; Trujillano, Laura; Valenzuela, Irene; van Haelst, Mieke M.; Vasileiou, Georgia; Vincent-Delorme, Catherine; Walther, Mona; Verde, Pablo; Bramswig, Nuria C.; Wieczorek, Dagmar
Human Genetics. :1-14
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Yaoxian Xu; Christoph Kuppe; Javier Perales-Patón; Sikander Hayat; Jennifer Kranz; Ali T. Abdallah; James Nagai; Zhijian Li; Fabian Peisker; Turgay Saritas; Maurice Halder; Sylvia Menzel; Konrad Hoeft; Annegien Kenter; Hyojin Kim; Claudia R. C. van Roeyen; Michael Lehrke; Julia Moellmann; Thimoteus Speer; Eva M. Buhl; Remco Hoogenboezem; Peter Boor; Jitske Jansen; Cordula Knopp; Ingo Kurth; Bart Smeets; Eric Bindels; Marlies E. J. Reinders; Carla Baan; Joost Gribnau; Ewout J. Hoorn; Joachim Steffens; Tobias B. Huber; Ivan Costa; Jürgen Floege; Rebekka K. Schneider; Julio Saez-Rodriguez; Benjamin S. Freedman; Rafael Kramann
Nat Genet
Nature Genetics, 54, 11, pp. 1690-1701
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Academic Journal
Sheng-Jia Lin; Barbara Vona; Tracy Lau; Kevin Huang; Maha S. Zaki; Huda Shujaa Aldeen; Ehsan Ghayoor Karimiani; Clarissa Rocca; Mahmoud M. Noureldeen; Ahmed K. Saad; Cassidy Petree; Tobias Bartolomaeus; Rami Abou Jamra; Giovanni Zifarelli; Aditi Gotkhindikar; Ingrid M. Wentzensen; Mingjuan Liao; Emalyn Elise Cork; Pratishtha Varshney; Narges Hashemi; Mohammad Hasan Mohammadi; Aboulfazl Rad; Juanita Neira; Mehran Beiraghi Toosi; Cordula Knopp; Ingo Kurth; Thomas D. Challman; Rebecca Smith; Asmahan Abdalla; Thomas Haaf; Mohnish Suri; Manali Joshi; Wendy K. Chung; Andres Moreno-De-Luca; Henry Houlden; Reza Maroofian; Gaurav K. Varshney
Genome Medicine, Vol 15, Iss 1, Pp 1-24 (2023)
Academic Journal
Natja Haag; Ene-Choo Tan; Matthias Begemann; Lars Buschmann; Florian Kraft; Petra Holschbach; Angeline H. M. Lai; Maggie Brett; Ganeshwaran H. Mochida; Stephanie DiTroia; Lynn Pais; Jennifer E. Neil; Muna Al-Saffar; Laila Bastaki; Christopher A. Walsh; Ingo Kurth; Cordula Knopp
Eur J Hum Genet
Academic Journal
Axel Schmidt; Magdalena Danyel; Kathrin Grundmann; Theresa Brunet; Hannah Klinkhammer; Tzung-Chien Hsieh; Hartmut Engels; Sophia Peters; Alexej Knaus; Shahida Moosa; Luisa Averdunk; Felix Boschann; Henrike Sczakiel; Sarina Schwartzmann; Martin Atta Mensah; Jean Tori Pantel; Manuel Holtgrewe; Annemarie Bösch; Claudia Weiß; Natalie Weinhold; Aude-Annick Suter; Corinna Stoltenburg; Julia Neugebauer; Tillmann Kallinich; Angela M. Kaindl; Susanne Holzhauer; Christoph Bührer; Philip Bufler; Uwe Kornak; Claus-Eric Ott; Markus Schülke; Hoa Huu Phuc Nguyen; Sabine Hoffjan; Corinna Grasemann; Tobias Rothoeft; Folke Brinkmann; Nora Matar; Sugirthan Sivalingam; Claudia Perne; Elisabeth Mangold; Martina Kreiss; Kirsten Cremer; Regina C. Betz; Tim Bender; Martin Mücke; Lorenz Grigull; Thomas Klockgether; Spier Isabel; Heimbach André; Bender Tim; Fabian Brand; Christiane Stieber; Alexandra Marzena Morawiec; Pantelis Karakostas; Valentin S. Schäfer; Sarah Bernsen; Patrick Weydt; Sergio Castro-Gomez; Ahmad Aziz; Marcus Grobe-Einsler; Okka Kimmich; Xenia Kobeleva; Demet Önder; Hellen Lesmann; Sheetal Kumar; Pawel Tacik; Min Ae Lee-Kirsch; Reinhard Berner; Catharina Schuetz; Julia Körholz; Tanita Kretschmer; Nataliya Di Donato; Evelin Schröck; André Heinen; Ulrike Reuner; Amalia-Mihaela Hanßke; Frank J. Kaiser; Eva Manka; Martin Munteanu; Alma Kuechler; Kiewert Cordula; Raphael Hirtz; Elena Schlapakow; Christian Schlein; Jasmin Lisfeld; Christian Kubisch; Theresia Herget; Maja Hempel; Christina Weiler-Normann; Kurt Ullrich; Christoph Schramm; Cornelia Rudolph; Franziska Rillig; Maximilian Groffmann; Ania Muntau; Alexandra Tibelius; Eva M. C. Schwaibold; Christian P. Schaaf; Michal Zawada; Lilian Kaufmann; Katrin Hinderhofer; Pamela M. Okun; Urania Kotzaeridou; Georg F. Hoffmann; Daniela Choukair; Markus Bettendorf; Malte Spielmann; Annekatrin Ripke; Martje Pauly; Alexander Münchau; Katja Lohmann; Irina Hüning; Britta Hanker; Tobias Bäumer; Rebecca Herzog; Yorck Hellenbroich; Dominik S. Westphal; Tim Strom; Reka Kovacs; Korbinian M. Riedhammer; Katharina Mayerhanser; Elisabeth Graf; Melanie Brugger; Julia Hoefele; Konrad Oexle; Nazanin Mirza-Schreiber; Riccardo Berutti; Ulrich Schatz; Martin Krenn; Christine Makowski; Heike Weigand; Sebastian Schröder; Meino Rohlfs; Vill Katharina; Fabian Hauck; Ingo Borggraefe; Wolfgang Müller-Felber; Ingo Kurth; Miriam Elbracht; Cordula Knopp; Matthias Begemann; Florian Kraft; Johannes R. Lemke; Julia Hentschel; Konrad Platzer; Vincent Strehlow; Rami Abou Jamra; Martin Kehrer; German Demidov; Stefanie Beck-Wödl; Holm Graessner; Marc Sturm; Lena Zeltner; Ludger J. Schöls; Janine Magg; Andrea Bevot; Christiane Kehrer; Nadja Kaiser; Denise Horn; Annette Grüters-Kieslich; Christoph Klein; Stefan Mundlos; Markus Nöthen; Olaf Riess; Thomas Meitinger; Heiko Krude; Peter M. Krawitz; Tobias Haack; Nadja Ehmke; Matias Wagner
Academic Journal
Hellen Lesmann; Alexander Hustinx; Shahida Moosa; Hannah Klinkhammer; Elaine Marchi; Pilar Caro; Ibrahim M. Abdelrazek; Jean Tori Pantel; Merle ten Hagen; Meow-Keong Thong; Rifhan Azwani Binti Mazlan; Sok Kun Tae; Tom Kamphans; Wolfgang Meiswinkel; Jing-Mei Li; Behnam Javanmardi; Alexej Knaus; Annette Uwineza; Cordula Knopp; Tinatin Tkemaladze; Miriam Elbracht; Larissa Mattern; Rami Abou Jamra; Clara Velmans; Vincent Strehlow; Maureen Jacob; Angela Peron; Cristina Dias; Beatriz Carvalho Nunes; Thainá Vilella; Isabel Furquim Pinheiro; Chong Ae Kim; Maria Isabel Melaragno; Hannah Weiland; Sophia Kaptain; Karolina Chwiałkowska; Miroslaw Kwasniewski; Ramy Saad; Sarah Wiethoff; Himanshu Goel; Clara Tang; Anna Hau; Tahsin Stefan Barakat; Przemysław Panek; Amira Nabil; Julia Suh; Frederik Braun; Israel Gomy; Luisa Averdunk; Ekanem Ekure; Gaber Bergant; Borut Peterlin; Claudio Graziano; Nagwa Gaboon; Moisés Fiesco-Roa; Alessandro Mauro Spinelli; Nina-Maria Wilpert; Prasit Phowthongkum; Nergis Güzel; Tobias B. Haack; Rana Bitar; Andreas Tzschach; Agusti Rodriguez-Palmero; Theresa Brunet; Sabine Rudnik-Schöneborn; Silvina Noemi Contreras-Capetillo; Ava Oberlack; Carole Samango-Sprouse; Teresa Sadeghin; Margaret Olaya; Konrad Platzer; Artem Borovikov; Franziska Schnabel; Lara Heuft; Vera Herrmann; Renske Oegema; Nour Elkhateeb; Sheetal Kumar; Katalin Komlosi; Khoushoua Mohamed; Silvia Kalantari; Fabio Sirchia; Antonio F. Martinez-Monseny; Matthias Höller; Louiza Toutouna; Amal Mohamed; Amaia Lasa-Aranzasti; John A. Sayer; Nadja Ehmke; Magdalena Danyel; Henrike Sczakiel; Sarina Schwartzmann; Felix Boschann; Max Zhao; Ronja Adam; Lara Einicke; Denise Horn; Kee Seang Chew; KAM Choy Chen; Miray Karakoyun; Ben Pode-Shakked; Aviva Eliyahu; Rachel Rock; Teresa Carrion; Odelia Chorin; Yuri A. Zarate; Marcelo Martinez Conti; Mert Karakaya; Moon Ley Tung; Bharatendu Chandra; Arjan Bouman; Aime Lumaka; Naveed Wasif; Marwan Shinawi; Patrick R. Blackburn; Tianyun Wang; Tim Niehues; Axel Schmidt; Regina Rita Roth; Dagmar Wieczorek; Ping Hu; Rebekah L. Waikel; Suzanna E. Ledgister Hanchard; Gehad Elmakkawy; Sylvia Safwat; Frédéric Ebstein; Elke Krüger; Sébastien Küry; Stéphane Bézieau; Annabelle Arlt; Eric Olinger; Felix Marbach; Dong Li; Lucie Dupuis; Roberto Mendoza-Londono; Sofia Douzgou Houge; Denisa Weis; Brian Hon-Yin Chung; Christopher C.Y. Mak; Hülya Kayserili; Nursel Elcioglu; Ayca Aykut; Peli Özlem Şimşek-Kiper; Nina Bögershausen; Bernd Wollnik; Heidi Beate Bentzen; Ingo Kurth; Christian Netzer; Aleksandra Jezela-Stanek; Koen Devriendt; Karen W. Gripp; Martin Mücke; Alain Verloes; Christian P. Schaaf; Christoffer Nellåker; Benjamin D. Solomon; Markus M. Nöthen; Ebtesam Abdalla; Gholson J. Lyon; Peter M. Krawitz; Tzung-Chien Hsieh
medRxiv
Res Sq
40 Seiten (2024). doi:10.21203/rs.3.rs-4438861/v1
Res Sq
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Academic Journal
Thomas Eggermann; Johanna Brück; Cordula Knopp; György Fekete; Christian Kratz; Velibor Tasic; Ingo Kurth; Miriam Elbracht; Katja Eggermann; Matthias Begemann
J Mol Med (Berl)
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Lesmann, Hellen; Moosa, Shahida; Pantel, Tori; Rosnev, Stanislav; Hustinx, Alexander; Javanmardi, Behnam; Knaus, Alexej; Kamphans, Tom; Meiswinkel, Wolfgang; Li, Jing-Mei; Hagen, Merle ten; Caro, Pilar; Velmans, Clara; Höller, Matthias; Abdelrazek, Ibrahim; Elmakkawy, Gehad; Alaadin, Khoushoua; Coetzer, Kimberly Christine; Ebstein, Frédéric; Küry, Sebastian; Abdalla, Ebtesam; Elbracht, Miriam; Knopp, Cordula; Arlt, Annabelle; Graziano, Claudio; Artem, Borovikov; Uwineza, Annette; Marbach, Felix; Netzer, Christian; Jamra, Rami Abou; Nöthen, Markus; Lyon, Gholson; Krawitz, Peter; Hsieh, Tzung-Chien
Genetics in Medicine Open. 1(1)
Academic Journal
Florian Erger; Rajindra P. Aryal; Björn Reusch; Yasuyuki Matsumoto; Robert Meyer; Junwei Zeng; Cordula Knopp; Maxence Noel; Lukas Muerner; Andrea Wenzel; Stefan Kohl; Nikolai Tschernoster; Gunter Rappl; Isabelle Rouvet; Jutta Schröder-Braunstein; Felix S. Seibert; Holger Thiele; Martin G. Häusler; Lutz T. Weber; Maike Büttner-Herold; Miriam Elbracht; Sandra F. Cummings; Janine Altmüller; Sandra Habbig; Richard D. Cummings; Bodo B. Beck
Proc Natl Acad Sci U S A
Erger, Florian; Aryal, Rajindra P; Reusch, Björn; Matsumoto, Yasuyuki; Meyer, Robert; Zeng, Junwei;Knopp , Cordula ; Noel, Maxence; Muerner, Lukas; Wenzel, Andrea; Kohl, Stefan; Tschernoster, Nikolai; Rappl, Gunter; Rouvet, Isabelle; Schröder-Braunstein, Jutta; Seibert, Felix S; Thiele, Holger; Häusler, Martin G; Weber, Lutz T; Büttner-Herold, Maike; ... (2023). Germline C1GALT1C1 mutation causes a multisystem chaperonopathy. Proceedings of the National Academy of Sciences of the United States of America-PNAS, 120(22), e2211087120. National Academy of Sciences 10.1073/pnas.2211087120
Erger, Florian; Aryal, Rajindra P; Reusch, Björn; Matsumoto, Yasuyuki; Meyer, Robert; Zeng, Junwei;
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