학술논문
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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
Anna Grether; Ivan Ivanovski; Martina Russo; Anaïs Begemann; Katharina Steindl; Lucia Abela; Michael Papik; Markus Zweier; Beatrice Oneda; Pascal Joset; Anita Rauch
Molecular Genetics & Genomic Medicine, Vol 11, Iss 5, Pp n/a-n/a (2023)
Academic Journal
Paranchai Boonsawat; Anselm H. C. Horn; Katharina Steindl; Alessandra Baumer; Pascal Joset; Dennis Kraemer; Angela Bahr; Ivan Ivanovski; Elena M. Cabello; Michael Papik; Markus Zweier; Beatrice Oneda; Pietro Sirleto; Tilo Burkhardt; Heinrich Sticht; Anita Rauch
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-12 (2022)
Academic Journal
Lot Snijders Blok; Jolijn Verseput; Dmitrijs Rots; Hanka Venselaar; A. Micheil Innes; Connie Stumpel; Katrin Õunap; Karit Reinson; Eleanor G. Seaby; Shane McKee; Barbara Burton; Katherine Kim; Johanna M. van Hagen; Quinten Waisfisz; Pascal Joset; Katharina Steindl; Anita Rauch; Dong Li; Elaine H. Zackai; Sarah E. Sheppard; Beth Keena; Hakon Hakonarson; Andreas Roos; Nicolai Kohlschmidt; Anna Cereda; Maria Iascone; Erika Rebessi; Kristin D. Kernohan; Philippe M. Campeau; Francisca Millan; Jesse A. Taylor; Hanns Lochmüller; Martin R. Higgs; Amalia Goula; Birgitta Bernhard; Danita J. Velasco; Andrew A. Schmanski; Zornitza Stark; Lyndon Gallacher; Lynn Pais; Paul C. Marcogliese; Shinya Yamamoto; Nicholas Raun; Taryn E. Jakub; Jamie M. Kramer; Joery den Hoed; Simon E. Fisher; Han G. Brunner; Tjitske Kleefstra
HGG Advances, Vol 4, Iss 1, Pp 100157- (2023)
Academic Journal
Frontiers in Immunology, Vol 13 (2022)
Academic Journal
Epilepsia Open, Vol 6, Iss 4, Pp 793-794 (2021)
Academic Journal
Anaïs Begemann; Mario A. Acuña; Markus Zweier; Marie Vincent; Katharina Steindl; Ruxandra Bachmann-Gagescu; Annette Hackenberg; Lucia Abela; Barbara Plecko; Judith Kroell-Seger; Alessandra Baumer; Kazuhiro Yamakawa; Yushi Inoue; Reza Asadollahi; Heinrich Sticht; Hanns Ulrich Zeilhofer; Anita Rauch
Molecular Medicine, Vol 25, Iss 1, Pp 1-15 (2019)
Academic Journal
Johannes Trück; Seraina Prader; Giancarlo Natalucci; Cornelia Hagmann; Barbara Brotschi; Janet Kelly; Dirk Bassler; Katharina Steindl; Anita Rauch; Matthias Baumgartner; Ralph Fingerhut; Mathias Hauri-Hohl; Tayfun Güngör; Jana Pachlopnik Schmid; Christoph Berger; Janine Reichenbach
Swiss Medical Weekly, Vol 150, Iss 2526 (2020)
Academic Journal
Dennis Kraemer; Silvia Azzarello-Burri; Katharina Steindl; Paranchai Boonsawat; Markus Zweier; Konstantin J. Dedes; Pascal Joset; Daniel Fink; Anita Rauch
Swiss Medical Weekly, Vol 149, Iss 3334 (2019)
Academic Journal
Patricia Haug; Samuel Koller; Jordi Maggi; Elena Lang; Silke Feil; Agnès Wlodarczyk; Luzy Bähr; Katharina Steindl; Marianne Rohrbach; Christina Gerth-Kahlert; Wolfgang Berger
Genes, Vol 12, Iss 1, p 65 (2021)
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[AR] Katharina Steindl
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