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Clinical genome sequencing in patients with hereditary breast and ovarian cancer: Concept, implementation and benefits by Dennis Witt, Marc Sturm, Antje Stäbler, Benita Menden, Lisa Ruisinger, Kristin Bosse, Ines Gruber, Andreas Hartkopf, Silja Gauß, German Demidov, Nicolas Casadei, Elena Buena Atienza, Kira Mehnert, Janna Witt, Caspar Gross, Leon Schütz, Christopher Schroeder, Stephan Ossowski, Andreas Dufke, Tobias B. Haack, Olaf Riess, Ulrike Faust
Published 2025-08-01Get full text
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Pregnancy-related issues in rare and low-prevalence diseases: results of ERN transversal working group on pregnancy and family planning survey by Dina Zucchi, Diana Marinello, Chiara Tani, Giovanni Fulvio, Silvia Aguilera, Alexandra Benachi, Ruth Biller, Ignacio Blanco, Petra Borgards, Marie-Claude Boiteux, Maria Luisa Brandi, Ester Costafreda, Joao E. Fonseca, Micaela Fredi, Violeta Iotova, Simone Louisse, Cecilia Nalli, Michela Onali, Beverley Power, Christine Rousset-Jablonski, Dominique Sturz, Angela Tincani, Ana Vieira, Susana Capela, Dorica Dan, Julie De Backer, Christine de Die-Smulders, Andreas Dufke, Estelle Lecointe Artzner, Giuseppe Limongelli, Birgit Lorenz, Wiebke Papenthin, María Jesús Pascau, Johanna Raidt, Isabelle Ray-Coquard, Rachel Rimmer, Claas Röhl, Holm Schneider, Tet Yap, Rosaria Talarico, Marta Mosca
Published 2025-03-01Get full text
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Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. by Rocio Acuna-Hidalgo, Pelagia Deriziotis, Marloes Steehouwer, Christian Gilissen, Sarah A Graham, Sipko van Dam, Julie Hoover-Fong, Aida B Telegrafi, Anne Destree, Robert Smigiel, Lindsday A Lambie, Hülya Kayserili, Umut Altunoglu, Elisabetta Lapi, Maria Luisa Uzielli, Mariana Aracena, Banu G Nur, Ercan Mihci, Lilia M A Moreira, Viviane Borges Ferreira, Dafne D G Horovitz, Katia M da Rocha, Aleksandra Jezela-Stanek, Alice S Brooks, Heiko Reutter, Julie S Cohen, Ali Fatemi, Martin Smitka, Theresa A Grebe, Nataliya Di Donato, Charu Deshpande, Anthony Vandersteen, Charles Marques Lourenço, Andreas Dufke, Eva Rossier, Gwenaelle Andre, Alessandra Baumer, Careni Spencer, Julie McGaughran, Lude Franke, Joris A Veltman, Bert B A De Vries, Albert Schinzel, Simon E Fisher, Alexander Hoischen, Bregje W van Bon
Published 2017-03-01Get full text
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