학술논문
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SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation
Academic Journal
Nashabat, Marwan; Nabavizadeh, Nasrinsadat; Saraçoğlu, Hilal Pırıl; Sarıbaş, Burak; Avcı, Şahin; Börklü, Esra; Beillard, Emmanuel; Yılmaz, Elanur; Uygur, Seyide Ecesu; Kayhan, Cavit Kerem; Bosco, Luca; Eren, Zeynep Bengi; Steindl, Katharina; Richter, Manuela Friederike; Bademci, Guney; Rauch, Anita; Fattahi, Zohreh; Valentino, Maria Lucia; Connolly, Anne M.; Bahr, Angela; Viola, Laura; Bergmann, Anke Katharina; Rocha, Maria Eugenia; Peart, LeShon; Castro-Rojas, Derly Liseth; Bültmann, Eva; Khan, Suliman; Giarrana, Miriam Liliana; Teleanu, Raluca Ioana; Gonzalez, Joanna Michelle; Pini, Antonella; Schädlich, Ines Sophie; Vill, Katharina; Brugger, Melanie; Zuchner, Stephan; Pinto, Andreia; Donkervoort, Sandra; Bivona, Stephanie Ann; Riza, Anca; Streata, Ioana; Gläser, Dieter; Baquero-Montoya, Carolina; Garcia-Restrepo, Natalia; Kotzaeridou, Urania; Brunet, Theresa; Epure, Diana Anamaria; Bertoli-Avella, Aida; Kariminejad, Ariana; Tekin, Mustafa; von Hardenberg, Sandra; Bönnemann, Carsten G.; Stettner, Georg M.; Zanni, Ginevra; Kayserili, Hülya; Oflazer, Zehra Piraye; Escande-Beillard, Nathalie
Nature Communications. 15(1)
Academic Journal
Graessner, Holm; Reinhard, Carola; Bäumer, Tobias; Baumgärtner, Annette; Brockmann, Knut; Brüggemann, Norbert; Bültmann, Eva; Erdmann, Jeanette; Heise, Kirstin; Höglinger, Günter; Hüning, Irina; Kaiser, Frank J.; Klein, Christine; Klopstock, Thomas; Krägeloh-Mann, Ingeborg; Kraemer, Markus; Luedtke, Kerstin; Mücke, Martin; Musacchio, Thomas; Nadke, Andreas; Osmanovic, Alma; Ritter, Gabriele; Röse, Katharina; Schippers, Christopher; Schöls, Ludger; Schüle, Rebecca; Schulz, Jörg B.; Sproß, Joachim; Stasch, Eveline; Wunderlich, Gilbert; Münchau, Alexander
Orphanet Journal of Rare Diseases. 19(1)
Academic Journal
European Journal of Pediatrics. 182(10):4663-4672
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation
Academic Journal
Marwan Nashabat; Nasrinsadat Nabavizadeh; Hilal Pırıl Saraçoğlu; Burak Sarıbaş; Şahin Avcı; Esra Börklü; Emmanuel Beillard; Elanur Yılmaz; Seyide Ecesu Uygur; Cavit Kerem Kayhan; Luca Bosco; Zeynep Bengi Eren; Katharina Steindl; Manuela Friederike Richter; Guney Bademci; Anita Rauch; Zohreh Fattahi; Maria Lucia Valentino; Anne M. Connolly; Angela Bahr; Laura Viola; Anke Katharina Bergmann; Maria Eugenia Rocha; LeShon Peart; Derly Liseth Castro-Rojas; Eva Bültmann; Suliman Khan; Miriam Liliana Giarrana; Raluca Ioana Teleanu; Joanna Michelle Gonzalez; Antonella Pini; Ines Sophie Schädlich; Katharina Vill; Melanie Brugger; Stephan Zuchner; Andreia Pinto; Sandra Donkervoort; Stephanie Ann Bivona; Anca Riza; Undiagnosed Diseases Network; Ioana Streata; Dieter Gläser; Carolina Baquero-Montoya; Natalia Garcia-Restrepo; Urania Kotzaeridou; Theresa Brunet; Diana Anamaria Epure; Aida Bertoli-Avella; Ariana Kariminejad; Mustafa Tekin; Sandra von Hardenberg; Carsten G. Bönnemann; Georg M. Stettner; Ginevra Zanni; Hülya Kayserili; Zehra Piraye Oflazer; Nathalie Escande-Beillard
Nature Communications, Vol 15, Iss 1, Pp 1-19 (2024)
Academic Journal
Holm Graessner; Carola Reinhard; Tobias Bäumer; Annette Baumgärtner; Knut Brockmann; Norbert Brüggemann; Eva Bültmann; Jeanette Erdmann; Kirstin Heise; Günter Höglinger; Irina Hüning; Frank J. Kaiser; Christine Klein; Thomas Klopstock; Ingeborg Krägeloh-Mann; Markus Kraemer; Kerstin Luedtke; Martin Mücke; Thomas Musacchio; Andreas Nadke; Alma Osmanovic; Gabriele Ritter; Katharina Röse; Christopher Schippers; Ludger Schöls; Rebecca Schüle; Jörg B. Schulz; Joachim Sproß; Eveline Stasch; Gilbert Wunderlich; Alexander Münchau
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
Academic Journal
Martina Michaelis; Monika A. Rieger; Stephanie Burgess; Viktoria Töws; Femke I. Abma; Ute Bültmann; Benjamin C. Amick; Eva Rothermund
BMC Public Health, Vol 22, Iss 1, Pp 1-9 (2022)
Academic Journal
Neuroradiology: A Journal Dedicated to Neuroimaging and Interventional Neuroradiology. 64(5):1021-1031
Academic Journal
Markus, Fenja; Kannengießer, Annika; Näder, Patricia; Atigbire, Paul; Scholten, Alexander; Vössing, Christine; Bültmann, Eva; Korenke, G. Christoph; Owczarek-Lipska, Marta; Neidhardt, John
Journal of Human Genetics. 66(12):1159-1167
Academic Journal
Genes. November, 2022, Vol. 13 Issue 11
Academic Journal
Roßberg, Willi; Timm, Max; Matin, Farnaz; Zanoni, Alessandra; Krüger, Caroline; Giourgas, Alexandros; Bültmann, Eva; Lenarz, Thomas; Kral, Andrej; Lesinski-Schiedat, Anke
European Archives of Oto-Rhino-Laryngology: and Head & Neck. 278(4):951-958
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[검색어] Bültmann, Eva
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