학술논문
'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
Lauren G. Mascibroda; Mohammad Shboul; Nathan D. Elrod; Laurence Colleaux; Hanan Hamamy; Kai-Lieh Huang; Natoya Peart; Moirangthem Kiran Singh; Hane Lee; Barry Merriman; Jeanne N. Jodoin; Poojitha Sitaram; Laura A. Lee; Raja Fathalla; Baeth Al-Rawashdeh; Osama Ababneh; Mohammad El-Khateeb; Nathalie Escande-Beillard; Stanley F. Nelson; Yixuan Wu; Liang Tong; Linda J. Kenney; Sudipto Roy; William K. Russell; Jeanne Amiel; Bruno Reversade; Eric J. Wagner
Nature Communications, Vol 13, Iss 1, Pp 1-17 (2022)
Academic Journal
Samantha Wong; Yu Xuan Tan; Abigail Yi Ting Loh; Kiat Yi Tan; Hane Lee; Zainab Aziz; Stanley F Nelson; Engin Özkan; Hülya Kayserili; Nathalie Escande‐Beillard; Bruno Reversade
EMBO Molecular Medicine, Vol 15, Iss 5, Pp n/a-n/a (2023)
A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI‐NET sequencing
Academic Journal
Nasrinsadat Nabavizadeh; Annkatrin Bressin; Mohammad Shboul; Ricardo Moreno Traspas; Poh Hui Chia; Carine Bonnard; Emmanuelle Szenker‐Ravi; Burak Sarıbaş; Emmanuel Beillard; Umut Altunoglu; Zohreh Hojati; Scott Drutman; Susanne Freier; Mohammad El‐Khateeb; Rajaa Fathallah; Jean‐Laurent Casanova; Wesam Soror; Alaa Arafat; Nathalie Escande‐Beillard; Andreas Mayer; Bruno Reversade
EMBO Molecular Medicine, Vol 15, Iss 2, Pp n/a-n/a (2023)
Academic Journal
Sahar Elouej; Karim Harhouri; Morgane Le Mao; Genevieve Baujat; Sheela Nampoothiri; Hϋlya Kayserili; Nihal Al Menabawy; Laila Selim; Arianne Llamos Paneque; Christian Kubisch; Davor Lessel; Robert Rubinsztajn; Chayki Charar; Catherine Bartoli; Coraline Airault; Jean-François Deleuze; Agnes Rötig; Peter Bauer; Catarina Pereira; Abigail Loh; Nathalie Escande-Beillard; Antoine Muchir; Lisa Martino; Yosef Gruenbaum; Song-Hua Lee; Philippe Manivet; Guy Lenaers; Bruno Reversade; Nicolas Lévy; Annachiara De Sandre-Giovannoli
Nature Communications, Vol 11, Iss 1, Pp 1-15 (2020)
Academic Journal
Sahar Elouej; Karim Harhouri; Morgane Le Mao; Genevieve Baujat; Sheela Nampoothiri; Hϋlya Kayserili; Nihal Al Menabawy; Laila Selim; Arianne Llamos Paneque; Christian Kubisch; Davor Lessel; Robert Rubinsztajn; Chayki Charar; Catherine Bartoli; Coraline Airault; Jean-François Deleuze; Agnes Rötig; Peter Bauer; Catarina Pereira; Abigail Loh; Nathalie Escande-Beillard; Antoine Muchir; Lisa Martino; Yosef Gruenbaum; Song-Hua Lee; Philippe Manivet; Guy Lenaers; Bruno Reversade; Nicolas Lévy; Annachiara De Sandre-Giovannoli
Nature Communications, Vol 11, Iss 1, Pp 1-1 (2020)
Academic Journal
Ariana Kariminejad; Fariba Afroozan; Bita Bozorgmehr; Alireza Ghanadan; Susan Akbaroghli; Hamid Reza Khorram Khorshid; Faezeh Mojahedi; Aria Setoodeh; Abigail Loh; Yu Xuan Tan; Nathalie Escande-Beillard; Fransiska Malfait; Bruno Reversade; Thatjana Gardeitchik; Eva Morava
International Journal of Molecular Sciences, Vol 18, Iss 3, p 635 (2017)
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제한된 항목
[AR] Nathalie Escande‐Beillard
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