학술논문
'학술논문'
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1~10
Academic Journal
Balkan Medical Journal, Vol 41, Iss 3, Pp 161-166 (2024)
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
LéShon Peart; Joanna Gonzalez; Dayna Morel Swols; Duygu Duman; Turcin Saridogan; Memoona Ramzan; Mohammad Faraz Zafeer; Xue Zhong Liu; Adrien A. Eshraghi; Michael E. Hoffer; Simon I. Angeli; Guney Bademci; Susan Blanton; Carson Smith; Fred F. Telischi; Mustafa Tekin
Human Genomics, Vol 17, Iss 1, Pp 1-10 (2023)
Academic Journal
Stephanie Bivona; Carson Smith; Guney Bademci; LéShon Peart; Joanna Gonzalez; Nicholas Borja; Stephan Zuchner; Mustafa Tekin
Genetics in Medicine Open, Vol 2, Iss , Pp 101018- (2024)
Academic Journal
Genetics in Medicine Open, Vol 2, Iss , Pp 101150- (2024)
Academic Journal
Stephanie Bivona; Mustafa Tekin; Guney Bademci; Carson Smith; LeShon Peart; Brittney Johnson; Joanna Gonzalez; Nicholas Borja; Paulo Borjas Mendoza; Irman Forghani; Deborah Barbouth; Kumarie Latchman; Willa Thorson; Shengru Guo; Stephan Zuchner
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100150- (2023)
Academic Journal
Vladimir Camarena; Alejo Morales; Monique Williams; Mohammad Zafeer; Okan Kilic; Ali Kamiar; Monica Rasmuseen; LeShon Peart; Guney Bademci; Deborah Barbouth; Sarah Smithson; Lina Shehadeh; Gaofeng Wang; Katherina Walz; Mustafa Tekin
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100165- (2023)
Academic Journal
Guney Bademci; Stephanie Bivona; LeShon Peart; Brittney Johnson; Joanna Gonzalez; Nicholas Borja; Paulo Borjas Mendoza; Irman Forghani; Deborah Barbouth; Kumarie Latchman; Willa Thorson; Shengru Guo; Carson Smith; Stephan Zuchner; Mustafa Tekin
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100707- (2023)
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[AR] LeShon Peart
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