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1Academic JournalSNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation
المؤلفون: 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
المساهمون: 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
مصطلحات موضوعية: SNURPORTIN, ribonucleoprotein
وصف الملف: ELETTRONICO
Relation: info:eu-repo/semantics/altIdentifier/pmid/38413582; info:eu-repo/semantics/altIdentifier/wos/WOS:001178774300021; volume:15; issue:1; firstpage:1; lastpage:19; numberofpages:19; journal:NATURE COMMUNICATIONS; https://hdl.handle.net/11585/968046; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85186742934; https://www.nature.com/articles/s41467-024-45933-5
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2Academic Journal
المصدر: Monatsschrift Kinderheilkunde ; volume 170, issue S2, page 71-76 ; ISSN 0026-9298 1433-0474