학술논문
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'학술논문'
에서 검색결과 204건 | 목록
1~20
Academic Journal
Jebran, Ahmad-Fawad; Seidler, Tim; Tiburcy, Malte; Daskalaki, Maria; Kutschka, Ingo; Fujita, Buntaro; Ensminger, Stephan; Bremmer, Felix; Moussavi, Amir; Yang, Huaxiao; Qin, Xulei; Missbach, Sophie; Drummer, Charis; Baraki, Hassina; Boretius, Susann; Hasenauer, Christopher; Nette, Tobias; Kowallick, Johannes; Ritter, Christian O.; Lotz, Joachim; Didie, Michael; Mietsch, Mathias; Meyer, Tim; Kensah, George; Krueger, Dennis; Sakib, Md Sadman; Kaurani, Lalit; Fischer, Andre; Dressel, Ralf; Rodriguez-Polo, Ignacio; Stauske, Michael; Diecke, Sebastian; Maetz-Rensing, Kerstin; Gruber-Dujardin, Eva; Bleyer, Martina; Petersen, Beatrix; Roos, Christian; Zhang, Liye; Walter, Lutz; Kaulfuss, Silke; Yigit, Goekhan; Wollnik, Bernd; Levent, Elif; Roshani, Berit; Stahl-Henning, Christiane; Stroebel, Philipp; Legler, Tobias; Riggert, Joachim; Hellenkamp, Kristian; Voigt, Jens-Uwe; Hasenfuss, Gerd; Hinkel, Rabea; Wu, Joseph C.; Behr, Ruediger; Zimmermann, Wolfram-Hubertus
Nature
Nature 639(8054), 503-511 (2025). doi:10.1038/s41586-024-08463-0
Nature 639(8054), 503-511 (2025). doi:10.1038/s41586-024-08463-0
Academic Journal
Constanza Tapia Contreras; Jonas Dominik Falke; Dana‐Magdalena Seifert; Carolin Schneider; Lukas Krauß; Xin Fang; Denise Müller; Engin Demirdizen; Melanie Spitzner; Tiago De Oliveira; Christian Schneeweis; Jochen Gaedcke; Silke Kaulfuß; Kimia Mirzakhani; Bernd Wollnik; Karly Conrads; Tim Beißbarth; Gabriela Salinas; Jonas Hügel; Nils Beyer; Sophia Rheinländer; Ulrich Sax; Matthias Wirth; Lena‐Christin Conradi; Maximilian Reichert; Volker Ellenrieder; Philipp Ströbel; Michael Ghadimi; Marian Grade; Dieter Saur; Elisabeth Hessmann; Günter Schneider
Mol Oncol
Molecular Oncology, Vol 19, Iss 2, Pp 295-310 (2025)
Molecular Oncology, Vol 19, Iss 2, Pp 295-310 (2025)
Academic Journal
Cuinat, Silvestre; Chatron, Nicolas; Petit, Florence; Brunelle, Perrine; Dincuff, Etienne; Aubert Mucca, Marion; Bieth, Eric; Schmetz, Ariane; Rieder, Harald; Wollnik, Bernd; Kaulfuß, Silke; Yigit, Gökhan; McKeown, Colina; Savage, Tim; Mulligan, Meghan R.; Bicknell, Louise S.; Corsten-Janssen, Nicole; Edery, Patrick; Lesca, Gaetan; de Villartay, Jean-Pierre; Putoux, Audrey
European Journal of Human Genetics. :1-10
Academic Journal
Dekker, Jordy ; Schot, Rachel ; Aldinger, Kimberly A. ; Everman, David B. ; Washington, Camerun ; Jones, Julie R. ; Sullivan, Jennifer A. ; Spillmann, Rebecca C. ; Shashi, Vandana ; Vitobello, Antonio ; Denommé-Pichon, Anne-Sophie ; Mosca-Boidron, Anne-Laure ; Perrin, Laurence ; Auvin, Stéphane ; Zaki, Maha S. ; Gleeson, Joseph G. ; Meave, Naomi ; Wallace, Cassidy ; Nambot, Sophie ; Delanne, Julian ; Ruggiero, Sarah M. ; Helbig, Ingo ; Fitzgerald, Mark P. ; Leventer, Richard J. ; Grange, Dorothy K. ; Argilli, Emanuela ; Sherr, Elliott H. ; Prakash, Supraja ; Neilson, Derek E. ; Nicita, Francesco ; Sferra, Antonella ; Bertini, Enrico S. ; Aiello, Chiara ; Brockmann, Knut ; Kuranov, Alexander B. ; Kaulfuss, Silke ; Basit, Sulman ; Alluqmani, Majed ; Almatrafi, Ahmad ; Friedman, Jan M. ; Guimond, Colleen ; Mohammed, Faruq ; Sharma, Pooja ; Goel, Divya ; Wirth, Thomas ; Anheim, Mathieu ; Bahena, Paulina ; Koparir, Asuman ; Kolokotronis, Konstantinos ; Vona, Barbara ; Haaf, Thomas ; Kunstmann, Erdmute ; Maroofian, Reza ; Sczakiel, Henrike L. ; Boschann, Felix ; Misra-Isrie, Mala ; Louie, Raymond J. ; Stolerman, Elliot S. ; Sanchez-Lara, Pedro A. ; Mergler, Sandra ; Oegema, Renske ; Zarate, Yuri A. ; Kariminejad, Ariana ; Tajsharghi, Homa ; Zeidler, Shimriet ; Kievit, Anneke J.A. ; Bouman, Arjan ; Cappuccio, Gerarda ; Brunetti-Pierri, Nicola ; Stuurman, Kyra E. ; Swols, Dayna Morel ; Tekin, Mustafa ; Upadia, Jariya ; Martin, Donna M. ; Craven, Daniel ; Hiatt, Susan M. ; van de Pol, Laura A. ; D'Arco, Felice ; Margot, Henri ; Wilke, Martina ; Yousefi, Soheil ; Barakat, Tahsin Stefan ; van Veghel-Plandsoen, Monique M. ; Aronica, Eleonora ; Anink, Jasper ; Rogers, Stephen L. ; Slep, Kevin C. ; Doherty, Dan ; Dobyns, William B. ; Mancini, Grazia M.S.
In The American Journal of Human Genetics 2 October 2025 112(10):2363-2380
Academic Journal
American Journal of Medical Genetics Part A. 194:111-114
Academic Journal
Hasselluhn, Marie C. ; Schlösser, Denise ; Versemann, Lennart ; Schmidt, Geske E. ; Ulisse, Maria ; Oschwald, Joana ; Zhang, Zhe ; Hamdan, Feda ; Xiao, Harry ; Kopp, Waltraut ; Spitalieri, Jessica ; Kellner, Christin ; Schneider, Carolin ; Reutlinger, Kristina ; Nagarajan, Sankari ; Steuber, Benjamin ; Sastra, Stephen A. ; Palermo, Carmine F. ; Appelhans, Jennifer ; Bohnenberger, Hanibal ; Todorovic, Jovan ; Kostyuchek, Irina ; Ströbel, Philipp ; Bockelmann, Aiko ; König, Alexander ; Ammer-Herrmenau, Christoph ; Schmidleitner, Laura ; Kaulfuß, Silke ; Wollnik, Bernd ; Hahn, Stephan A. ; Neesse, Albrecht ; Singh, Shiv K. ; Bastians, Holger ; Reichert, Maximilian ; Sax, Ulrich ; Olive, Kenneth P. ; Johnsen, Steven A. ; Schneider, Günter ; Ellenrieder, Volker ; Hessmann, Elisabeth
In Gastroenterology February 2024 166(2):298-312
Academic Journal
Emily Banks; Vincent Francis; Sheng-Jia Lin; Fares Kharfallah; Vladimir Fonov; Maxime Lévesque; Chanshuai Han; Gopinath Kulasekaran; Marius Tuznik; Armin Bayati; Reem Al-Khater; Fowzan S. Alkuraya; Loukas Argyriou; Meisam Babaei; Melanie Bahlo; Behnoosh Bakhshoodeh; Eileen Barr; Lauren Bartik; Mahmoud Bassiony; Miriam Bertrand; Dominique Braun; Rebecca Buchert; Mauro Budetta; Maxime Cadieux-Dion; Daniel G. Calame; Heidi Cope; Donna Cushing; Stephanie Efthymiou; Marwa Abd Elmaksoud; Huda G. El Said; Tawfiq Froukh; Harinder K. Gill; Joseph G. Gleeson; Laura Gogoll; Elaine S.-Y. Goh; Vykuntaraju K. Gowda; Tobias B. Haack; Mais O. Hashem; Stefan Hauser; Trevor L. Hoffman; Jacob S. Hogue; Akimoto Hosokawa; Henry Houlden; Kevin Huang; Stephanie Huynh; Ehsan G. Karimiani; Silke Kaulfuß; G. Christoph Korenke; Amy Kritzer; Hane Lee; James R. Lupski; Elysa J. Marco; Kirsty McWalter; Arakel Minassian; Berge A. Minassian; David Murphy; Juanita Neira-Fresneda; Hope Northrup; Denis M. Nyaga; Barbara Oehl-Jaschkowitz; Matthew Osmond; Richard Person; Davut Pehlivan; Cassidy Petree; Lynette G. Sadleir; Carol Saunders; Ludger Schoels; Vandana Shashi; Rebecca C. Spillmann; Varunvenkat M. Srinivasan; Paria N. Torbati; Tulay Tos; Undiagnosed Diseases Network; Maha S. Zaki; Dihong Zhou; Christiane Zweier; Jean-François Trempe; Thomas M. Durcan; Ziv Gan-Or; Massimo Avoli; Cesar Alves; Gaurav K. Varshney; Reza Maroofian; David A. Rudko; Peter S. McPherson
Nature Communications, Vol 15, Iss 1, Pp 1-22 (2024)
Academic Journal
Reger R. Mikaeel; Joanne P. Young; Yun Li; Eric Smith; Mehgan Horsnell; Wendy Uylaki; Gonzalo Tapia Rico; Nicola K. Poplawski; Jennifer E. Hardingham; Yoko Tomita; Amanda R. Townsend; Jinghua Feng; Arne Zibat; Silke Kaulfuß; Christian Müller; Gökhan Yigit; Bernd Wollnik; Timothy J. Price
Genes, Chromosomes and Cancer. 61:105-113
Academic Journal
Schmidt, Julia; Schreiber, Gudrun; Altmüller, Janine; Thiele, Holger; Nürnberg, Peter; Li, Yun; Kaulfuß, Silke; Funke, Rudolf; Wilken, Bernd; Yigit, Gökhan; Wollnik, Bernd; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany; Department of Pediatric Neurology, Klinikum Kassel, Kassel, Germany; Max Delbrück Center for Molecular Medicine in the Helmholtz Association, Berlin, Germany; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Faculty of Medicine, University Hospital Cologne, Cologne, Germany; Cluster of Excellence 'Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells' (MBExC), University of Göttingen, Göttingen, Germany
Eur J Hum Genet
Academic Journal
Yigit, Gökhan; Sheffer, Ruth; Daana, Muhannad; Li, Yun; Kaygusuz, Emrah; Mor-Shakad, Hagar; Altmüller, Janine; Nürnberg, Peter; Douiev, Liza; Brockmann, Knut; Kaulfuss, Silke; Burfeind, Peter; Wollnik, Bernd; 1 Institute of Human Genetics, University Medical Center Göttingen, Gottingen, Germany; 2 Department of Human Genetics, Hadassah University Hospital, Jerusalem, Israel; 3 Child Development Institute, Clalit Health Services, Tel Aviv, Israel; 5 Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany; 7 Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, University Medical Center Göttingen, Gottingen, Germany
J Med Genet
Academic Journal
Meyer, Stefanie; Kaulfuß, Silke; Zechel, Sabrina; Kummer, Karsten; Hosseini, Ali Seif Amir; Ernst, Marielle Sophie; Schmidt, Jens; Pauli, Silke; Zschüntzsch, Jana; 1Department of Neurology, University Medical Center Göttingen, Göttingen, Germany; 2Department of Human Genetics, University Medical Center Göttingen, Göttingen, Germany; 3Department of Neuropathology, University Medical Center Göttingen, Göttingen, Germany; Seif Amir Hosseini, Ali; 4Department of Diagnostic and Interventional Radiology, University Medical Center Göttingen, Göttingen, Germany; 5Department of Neuroradiology, University Medical Center Göttingen, Göttingen, Germany
Front Neurol
Frontiers in Neurology, Vol 13 (2022)
Frontiers in Neurology, Vol 13 (2022)
Academic Journal
Franziska Schnabel; Susanne B. Kamphausen; Rudolf Funke; Silke Kaulfuß; Bernd Wollnik; Martin Zenker
American Journal of Medical Genetics Part A. 185:850-855
Academic Journal
Alexander Fichtner; Annika Richter; Simon Filmar; Nadine T Gaisa; Stefan Schweyer; Henning Reis; Daniel Nettersheim; Christoph Oing; Fabian A Gayer; Andreas Leha; Stefan Küffer; Philipp Ströbel; Silke Kaulfuß; Felix Bremmer
Histopathology : journal of the British Division of the International Academy of Pathology 78(4), 593-606 (2021). doi:10.1111/his.14258
Academic Journal
Schmidt, Julia; Bremmer, Felix; Brockmann, Knut; Kaulfuß, Silke; Wollnik, Bernd; 2 Institute of Pathology University Medical Center Göttingen Göttingen Germany; 3 Interdisciplinary Pediatric Center for Children With Developmental Disabilities and Severe Chronic Disorders University Medical Center Göttingen Göttingen Germany; 1 Institute of Human Genetics University Medical Center Göttingen Göttingen Germany
Clinical Genetics. 102:239-241
Academic Journal
Schmidt, Julia; Dreha-Kulaczewski, Steffi; Zafeiriou, Maria Patapia; Schreiber, Marie-Kristin; Wilken, Bernd; Funke, Rudolf; Neuhofer, Christiane M.; Altmüller, Janine; Thiele, Holger; Nürnberg, Peter; Biskup, Saskia; Li, Yun; Zimmermann, Wolfram-Hubertus; Kaulfuß, Silke; Yigit, Gökhan; Wollnik, Bernd; 1 Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany; 2 Department of Pediatics and Adolescent Medicine, University Medical Center Göttingen, Göttingen, Germany; Zafeiriou, Maria-Patapia; 3 Institute of Pharmacology and Toxicology, University Medical Center Göttingen, Göttingen, Germany; 6 Department of Pediatric Neurology, Klinikum Kassel, Kassel, Germany; Neuhofer, Christiane M; 9 Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine, University Hospital Cologne, Cologne, Germany; 12 CeGaT GmbH, Center for Genomics and Transcriptomics, Tübingen, Germany; Zimmermann, Wolfram Hubertus
Front Cell Dev Biol
Frontiers in Cell and Developmental Biology, Vol 10 (2022)
Front. Cell Dev. Biol. 10:1025332 (2022)
Frontiers in Cell and Developmental Biology, Vol 10 (2022)
Front. Cell Dev. Biol. 10:1025332 (2022)
Academic Journal
Michael T. Parsons; Emma Tudini; Hongyan Li; Eric Hahnen; Barbara Wappenschmidt; Lidia Feliubadaló; Cora M. Aalfs; Simona Agata; Kristiina Aittomäki; Elisa Alducci; María Concepción Alonso‐Cerezo; Norbert Arnold; Bernd Auber; Rachel Austin; Jacopo Azzollini; Judith Balmaña; Elena Barbieri; Claus R. Bartram; Ana Blanco; Britta Blümcke; Sandra Bonache; Bernardo Bonanni; Åke Borg; Beatrice Bortesi; Joan Brunet; Carla Bruzzone; Karolin Bucksch; Giulia Cagnoli; Trinidad Caldés; Almuth Caliebe; Maria A. Caligo; Mariarosaria Calvello; Gabriele L. Capone; Sandrine M. Caputo; Ileana Carnevali; Estela Carrasco; Virginie Caux‐Moncoutier; Pietro Cavalli; Giulia Cini; Edward M. Clarke; Paola Concolino; Elisa J. Cops; Laura Cortesi; Fergus J. Couch; Esther Darder; Miguel Hoya; Michael Dean; Irmgard Debatin; Jesús Del Valle; Capucine Delnatte; Nicolas Derive; Orland Diez; Nina Ditsch; Susan M. Domchek; Véronique Dutrannoy; Diana M. Eccles; Hans Ehrencrona; Ute Enders; D. Gareth Evans; Chantal Farra; Ulrike Faust; Ute Felbor; Irene Feroce; Miriam Fine; William D. Foulkes; Henrique C.R. Galvao; Gaetana Gambino; Andrea Gehrig; Francesca Gensini; Anne‐Marie Gerdes; Aldo Germani; Jutta Giesecke; Viviana Gismondi; Carolina Gómez; Encarna B. Garcia; Sara González; Elia Grau; Sabine Grill; Eva Gross; Aliana Guerrieri‐Gonzaga; Marine Guillaud‐Bataille; Sara Gutiérrez‐Enríquez; Thomas Haaf; Karl Hackmann; Thomas V.O. Hansen; Marion Harris; Jan Hauke; Tilman Heinrich; Heide Hellebrand; Karen N. Herold; Ellen Honisch; Judit Horvath; Claude Houdayer; Verena Hübbel; Silvia Iglesias; Angel Izquierdo; Paul A. James; Linda A.M. Janssen; Udo Jeschke; Silke Kaulfuß; Katharina Keupp; Marion Kiechle; Alexandra Kölbl; Sophie Krieger; Torben A. Kruse; Anders Kvist; Fiona Lalloo; Mirjam Larsen; Vanessa L. Lattimore; Charlotte Lautrup; Susanne Ledig; Elena Leinert; Alexandra L. Lewis; Joanna Lim; Markus Loeffler; Adrià López‐Fernández; Emanuela Lucci‐Cordisco; Nicolai Maass; Siranoush Manoukian; Monica Marabelli; Laura Matricardi; Alfons Meindl; Rodrigo D. Michelli; Setareh Moghadasi; Alejandro Moles‐Fernández; Marco Montagna; Gemma Montalban; Alvaro N. Monteiro; Eva Montes; Luigi Mori; Lidia Moserle; Clemens R. Müller; Christoph Mundhenke; Nadia Naldi; Katherine L. Nathanson; Matilde Navarro; Heli Nevanlinna; Cassandra B. Nichols; Dieter Niederacher; Henriette R. Nielsen; Kai‐ren Ong; Nicholas Pachter; Edenir I. Palmero; Laura Papi; Inge Sokilde Pedersen; Bernard Peissel; Pedro Perez‐Segura; Katharina Pfeifer; Marta Pineda; Esther Pohl‐Rescigno; Nicola K. Poplawski; Berardino Porfirio; Anne S. Quante; Juliane Ramser; Rui M. Reis; Françoise Revillion; Kerstin Rhiem; Barbara Riboli; Julia Ritter; Daniela Rivera; Paula Rofes; Andreas Rump; Monica Salinas; Ana María Sánchez de Abajo; Gunnar Schmidt; Ulrike Schoenwiese; Jochen Seggewiß; Ares Solanes; Doris Steinemann; Mathias Stiller; Dominique Stoppa‐Lyonnet; Kelly J. Sullivan; Rachel Susman; Christian Sutter; Sean V. Tavtigian; Soo H. Teo; Alex Teulé; Mads Thomassen; Maria Grazia Tibiletti; Marc Tischkowitz; Silvia Tognazzo; Amanda E. Toland; Eva Tornero; Therese Törngren; Sara Torres‐Esquius; Angela Toss; Alison H. Trainer; Katherine M. Tucker; Christi J. Asperen; Marion T. Mackelenbergh; Liliana Varesco; Gardenia Vargas‐Parra; Raymonda Varon; Ana Vega; Ángela Velasco; Anne‐Sophie Vesper; Alessandra Viel; Maaike P. G. Vreeswijk; Sebastian A. Wagner; Anke Waha; Logan C. Walker; Rhiannon J. Walters; Shan Wang‐Gohrke; Bernhard H. F. Weber; Wilko Weichert; Kerstin Wieland; Lisa Wiesmüller; Isabell Witzel; Achim Wöckel; Emma R. Woodward; Silke Zachariae; Valentina Zampiga; Christine Zeder‐Göß; KConFab Investigators; Conxi Lázaro; Arcangela Nicolo; Paolo Radice; Christoph Engel; Rita K. Schmutzler; David E. Goldgar; Amanda B. Spurdle
Hum Mutat
Human Mutation
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Institut de Recerca Germans Trias i Pujol (IGTP)
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
RUNA. Repositorio da Consellería de Sanidade e Sergas
Servizo Galego de Saúde (SERGAS)
Dipòsit Digital de la UB
Universidad de Barcelona
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Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
Parsons, M T, Tudini, E, Li, H, Hahnen, E, Wappenschmidt, B, Feliubadaló, L, Aalfs, C M, Agata, S, Aittomäki, K, Alducci, E, Alonso-Cerezo, M C, Arnold, N, Auber, B, Austin, R, Azzollini, J, Balmaña, J, Barbieri, E, Bartram, C R, Blanco, A, Blümcke, B, Bonache, S, Bonanni, B, Borg, Å, Bortesi, B, Brunet, J, Bruzzone, C, Bucksch, K, Cagnoli, G, Caldés, T, Caliebe, A, Caligo, M A, Calvello, M, Capone, G L, Caputo, S M, Carnevali, I, Carrasco, E, Caux-Moncoutier, V, Cavalli, P, Cini, G, Clarke, E M, Concolino, P, Cops, E J, Cortesi, L, Couch, F J, Darder, E, de la Hoya, M, Dean, M, Debatin, I, del Valle, J, Delnatte, C, Derive, N, Diez, O, Ditsch, N, Domchek, S M, Dutrannoy, V, Eccles, D M, Ehrencrona, H, Enders, U, Evans, D G, Faust, U, Felbor, U, Feroce, I, Fine, M, Galvao, H C R, Gambino, G, Gehrig, A, Gensini, F, Gerdes, A-M, Germani, A, Giesecke, J, Gismondi, V, Gómez, C, Gómez Garcia, E B, González, S, Grau, E, Grill, S, Gross, E, Guerrieri-Gonzaga, A, Guillaud-Bataille, M, Gutiérrez-Enríquez, S, Haaf, T, Hackmann, K, Hansen, T V O, Harris, M, Hauke, J, Heinrich, T, Hellebrand, H, Herold, K N, Honisch, E, Horvath, J, Houdayer, C, Hübbel, V, Iglesias, S, Izquierdo, A, James, P A, Janssen, L A M, Jeschke, U, Kaulfuß, S, Keupp, K, Kiechle, M, Kölbl, A, Krieger, S, Kruse, T A, Kvist, A, Lalloo, F, Larsen, M, Lattimore, V L, Lautrup, C, Ledig, S, Leinert, E, Lewis, A L, Lim, J, Loeffler, M, López-Fernández, A, Lucci-Cordisco, E, Maass, N, Manoukian, S, Marabelli, M, Matricardi, L, Meindl, A, Michelli, R D, Moghadasi, S, Moles-Fernández, A, Montagna, M, Montalban, G, Monteiro, A N, Montes, E, Mori, L, Moserle, L, Müller, C R, Mundhenke, C, Naldi, N, Nathanson, K L, Navarro, M, Nevanlinna, H, Nichols, C B, Niederacher, D, Nielsen, H R, Ong, K, Pachter, N, Palmero, E I, Papi, L, Pedersen, I S, Peissel, B, Pérez-Segura, P, Pfeifer, K, Pineda, M, Pohl-Rescigno, E, Poplawski, N K, Porfirio, B, Quante, A S, Ramser, J, Rei, R M, Revillion, F, Rhiem, K, Riboli, B, Ritter, J, Rivera, D, Rofes, P, Rump, A, Salinas, M, Sánchez de Abajo, A M, Schmidt, G, Schoenwiese, U, Seggewiß, J, Solanes, A, Steinemann, D, Stiller, M, Stoppa-Lyonnet, D, Sullivan, K J, Susman, R, Sutter, C, Tavtigian, S V, Teo, S H, Teulé, A, Thomassen, M, Tibiletti, M G, Tognazzo, S, Toland, A E, Tornero, E, Törngren, T, Torres-Esquius, S, Toss, A, Trainer, A H, van Asperen, C J, van Mackelenbergh, M T, Varesco, L, Vargas-Parra, G, Varon, R, Vega, A, Velasco, Á, Vesper, A-S, Viel, A, Vreeswijk, M P G, Wagner, S A, Waha, A, Walker, L C, Walters, R J, Wang-Gohrke, S, Weber, B H F, Weichert, W, Wieland, K, Wiesmüller, L, Witzel, I, Wöckel, A, Woodward, E R, Zachariae, S, Zampiga, V, Zeder-Göß, C, KConFab Investigators, Lázaro, C, De Nicolo, A, Radice, P, Engel, C, Schmutzler, R K, Goldgar, D E & Spurdle, A B 2019, 'Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants : An ENIGMA resource to support clinical variant classification', Human Mutation, vol. 40, no. 9, pp. 1557-1578. https://doi.org/10.1002/humu.23818
Parsons, M T, Tudini, E, Li, H, Hahnen, E, Wappenschmidt, B, Feliubadaló, L, Aalfs, C M, Agata, S, Aittomäki, K, Alducci, E, Alonso-Cerezo, M C, Arnold, N, Auber, B, Austin, R, Azzollini, J, Balmaña, J, Barbieri, E, Bartram, C R, Blanco, A, Blümcke, B, Bonache, S, Bonanni, B, Borg, Å, Bortesi, B, Brunet, J, Bruzzone, C, Bucksch, K, Cagnoli, G, Caldés, T, Caliebe, A, Caligo, M A, Calvello, M, Capone, G L, Caputo, S M, Carnevali, I, Carrasco, E, Caux-Moncoutier, V, Cavalli, P, Cini, G, Clarke, E M, Concolino, P, Cops, E J, Cortesi, L, Couch, F J, Darder, E, de la Hoya, M, Dean, M, Gerdes, A-M, Hansen, T V O, Wagner, S A & kConFab Investigators 2019, ' Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants : An ENIGMA resource to support clinical variant classification ', Human Mutation, vol. 40, no. 9, pp. 1557-1578 . https://doi.org/10.1002/humu.23818
Parsons, M T, Tudini, E, Li, H, Hahnen, E, Wappenschmidt, B, Feliubadaló, L, Aalfs, C M, Agata, S, Aittomäki, K, Alducci, E, Alonso-Cerezo, M C, Arnold, N, Auber, B, Austin, R, Azzollini, J, Balmaña, J, Barbieri, E, Bartram, C R, Blanco, A, Blümcke, B, Bonache, S, Bonanni, B, Borg, Å, Bortesi, B, Brunet, J, Bruzzone, C, Bucksch, K, Cagnoli, G, Caldés, T, Caliebe, A, Caligo, M A, Calvello, M, Capone, G L, Caputo, S M, Carnevali, I, Carrasco, E, Caux-Moncoutier, V, Cavalli, P, Cini, G, Clarke, E M, Concolino, P, Cops, E J, Cortesi, L, Couch, F J, Gerdes, A-M, Hansen, T V O, Kruse, T A, Nielsen, H R, Pedersen, I S, Lautrup, C K, Thomassen, M & kConFab Investigators 2019, ' Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants : An ENIGMA resource to support clinical variant classification ', Human Mutation, vol. 40, no. 9, pp. 1557-1578 . https://doi.org/10.1002/humu.23818
Evans, D G, Lalloo, F, Woodward, E & et al. 2019, 'Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification', Human Mutation. https://doi.org/10.1002/humu.23818
Human Mutation
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Institut de Recerca Germans Trias i Pujol (IGTP)
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
RUNA. Repositorio da Consellería de Sanidade e Sergas
Servizo Galego de Saúde (SERGAS)
Dipòsit Digital de la UB
Universidad de Barcelona
instname
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
Parsons, M T, Tudini, E, Li, H, Hahnen, E, Wappenschmidt, B, Feliubadaló, L, Aalfs, C M, Agata, S, Aittomäki, K, Alducci, E, Alonso-Cerezo, M C, Arnold, N, Auber, B, Austin, R, Azzollini, J, Balmaña, J, Barbieri, E, Bartram, C R, Blanco, A, Blümcke, B, Bonache, S, Bonanni, B, Borg, Å, Bortesi, B, Brunet, J, Bruzzone, C, Bucksch, K, Cagnoli, G, Caldés, T, Caliebe, A, Caligo, M A, Calvello, M, Capone, G L, Caputo, S M, Carnevali, I, Carrasco, E, Caux-Moncoutier, V, Cavalli, P, Cini, G, Clarke, E M, Concolino, P, Cops, E J, Cortesi, L, Couch, F J, Darder, E, de la Hoya, M, Dean, M, Debatin, I, del Valle, J, Delnatte, C, Derive, N, Diez, O, Ditsch, N, Domchek, S M, Dutrannoy, V, Eccles, D M, Ehrencrona, H, Enders, U, Evans, D G, Faust, U, Felbor, U, Feroce, I, Fine, M, Galvao, H C R, Gambino, G, Gehrig, A, Gensini, F, Gerdes, A-M, Germani, A, Giesecke, J, Gismondi, V, Gómez, C, Gómez Garcia, E B, González, S, Grau, E, Grill, S, Gross, E, Guerrieri-Gonzaga, A, Guillaud-Bataille, M, Gutiérrez-Enríquez, S, Haaf, T, Hackmann, K, Hansen, T V O, Harris, M, Hauke, J, Heinrich, T, Hellebrand, H, Herold, K N, Honisch, E, Horvath, J, Houdayer, C, Hübbel, V, Iglesias, S, Izquierdo, A, James, P A, Janssen, L A M, Jeschke, U, Kaulfuß, S, Keupp, K, Kiechle, M, Kölbl, A, Krieger, S, Kruse, T A, Kvist, A, Lalloo, F, Larsen, M, Lattimore, V L, Lautrup, C, Ledig, S, Leinert, E, Lewis, A L, Lim, J, Loeffler, M, López-Fernández, A, Lucci-Cordisco, E, Maass, N, Manoukian, S, Marabelli, M, Matricardi, L, Meindl, A, Michelli, R D, Moghadasi, S, Moles-Fernández, A, Montagna, M, Montalban, G, Monteiro, A N, Montes, E, Mori, L, Moserle, L, Müller, C R, Mundhenke, C, Naldi, N, Nathanson, K L, Navarro, M, Nevanlinna, H, Nichols, C B, Niederacher, D, Nielsen, H R, Ong, K, Pachter, N, Palmero, E I, Papi, L, Pedersen, I S, Peissel, B, Pérez-Segura, P, Pfeifer, K, Pineda, M, Pohl-Rescigno, E, Poplawski, N K, Porfirio, B, Quante, A S, Ramser, J, Rei, R M, Revillion, F, Rhiem, K, Riboli, B, Ritter, J, Rivera, D, Rofes, P, Rump, A, Salinas, M, Sánchez de Abajo, A M, Schmidt, G, Schoenwiese, U, Seggewiß, J, Solanes, A, Steinemann, D, Stiller, M, Stoppa-Lyonnet, D, Sullivan, K J, Susman, R, Sutter, C, Tavtigian, S V, Teo, S H, Teulé, A, Thomassen, M, Tibiletti, M G, Tognazzo, S, Toland, A E, Tornero, E, Törngren, T, Torres-Esquius, S, Toss, A, Trainer, A H, van Asperen, C J, van Mackelenbergh, M T, Varesco, L, Vargas-Parra, G, Varon, R, Vega, A, Velasco, Á, Vesper, A-S, Viel, A, Vreeswijk, M P G, Wagner, S A, Waha, A, Walker, L C, Walters, R J, Wang-Gohrke, S, Weber, B H F, Weichert, W, Wieland, K, Wiesmüller, L, Witzel, I, Wöckel, A, Woodward, E R, Zachariae, S, Zampiga, V, Zeder-Göß, C, KConFab Investigators, Lázaro, C, De Nicolo, A, Radice, P, Engel, C, Schmutzler, R K, Goldgar, D E & Spurdle, A B 2019, 'Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants : An ENIGMA resource to support clinical variant classification', Human Mutation, vol. 40, no. 9, pp. 1557-1578. https://doi.org/10.1002/humu.23818
Parsons, M T, Tudini, E, Li, H, Hahnen, E, Wappenschmidt, B, Feliubadaló, L, Aalfs, C M, Agata, S, Aittomäki, K, Alducci, E, Alonso-Cerezo, M C, Arnold, N, Auber, B, Austin, R, Azzollini, J, Balmaña, J, Barbieri, E, Bartram, C R, Blanco, A, Blümcke, B, Bonache, S, Bonanni, B, Borg, Å, Bortesi, B, Brunet, J, Bruzzone, C, Bucksch, K, Cagnoli, G, Caldés, T, Caliebe, A, Caligo, M A, Calvello, M, Capone, G L, Caputo, S M, Carnevali, I, Carrasco, E, Caux-Moncoutier, V, Cavalli, P, Cini, G, Clarke, E M, Concolino, P, Cops, E J, Cortesi, L, Couch, F J, Darder, E, de la Hoya, M, Dean, M, Gerdes, A-M, Hansen, T V O, Wagner, S A & kConFab Investigators 2019, ' Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants : An ENIGMA resource to support clinical variant classification ', Human Mutation, vol. 40, no. 9, pp. 1557-1578 . https://doi.org/10.1002/humu.23818
Parsons, M T, Tudini, E, Li, H, Hahnen, E, Wappenschmidt, B, Feliubadaló, L, Aalfs, C M, Agata, S, Aittomäki, K, Alducci, E, Alonso-Cerezo, M C, Arnold, N, Auber, B, Austin, R, Azzollini, J, Balmaña, J, Barbieri, E, Bartram, C R, Blanco, A, Blümcke, B, Bonache, S, Bonanni, B, Borg, Å, Bortesi, B, Brunet, J, Bruzzone, C, Bucksch, K, Cagnoli, G, Caldés, T, Caliebe, A, Caligo, M A, Calvello, M, Capone, G L, Caputo, S M, Carnevali, I, Carrasco, E, Caux-Moncoutier, V, Cavalli, P, Cini, G, Clarke, E M, Concolino, P, Cops, E J, Cortesi, L, Couch, F J, Gerdes, A-M, Hansen, T V O, Kruse, T A, Nielsen, H R, Pedersen, I S, Lautrup, C K, Thomassen, M & kConFab Investigators 2019, ' Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants : An ENIGMA resource to support clinical variant classification ', Human Mutation, vol. 40, no. 9, pp. 1557-1578 . https://doi.org/10.1002/humu.23818
Evans, D G, Lalloo, F, Woodward, E & et al. 2019, 'Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification', Human Mutation. https://doi.org/10.1002/humu.23818
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