학술논문
'학술논문'
에서 검색결과 16건 | 목록
1~10
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
Majid Alfadhel; Marwan Nashabat; Mohammed Saleh; Mohammed Elamin; Ahmed Alfares; Ali Al Othaim; Muhammad Umair; Hind Ahmed; Faroug Ababneh; Fuad Al Mutairi; Wafaa Eyaid; Abdulrahman Alswaid; Lina Alohali; Eissa Faqeih; Mohammed Almannai; Majed Aljeraisy; Bayan Albdah; Mohamed A. Hussein; Zuhair Rahbeeni; Ali Alasmari
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Academic Journal
Journal of Biochemical and Clinical Genetics, Vol 4, Iss 1, Pp 42-47 (2021)
Academic Journal
Kheloud M. Alhamoudi; Tlili Barhoumi; Hamad Al-Eidi; Abdulaziz Asiri; Marwan Nashabat; Manal Alaamery; Masheal Alharbi; Yazeid Alhaidan; Brahim Tabarki; Muhammad Umair; Majid Alfadhel
Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)
Mutated RAP1GDS1 causes a new syndrome of dysmorphic feature, intellectual disability & speech delay
Academic Journal
Abdulaziz Asiri; Essra Aloyouni; Muhammad Umair; Yusra Alyafee; Abeer Al Tuwaijri; Kheloud M. Alhamoudi; Bader Almuzzaini; Abeer Al Baz; Deemah Alwadaani; Marwan Nashabat; Majid Alfadhel
Annals of Clinical and Translational Neurology, Vol 7, Iss 6, Pp 956-964 (2020)
Academic Journal
Muhammad Umair; Muhammad Farooq Khan; Mohammed Aldrees; Marwan Nashabat; Kheloud M. Alhamoudi; Muhammad Bilal; Yusra Alyafee; Abeer Al Tuwaijri; Manar Aldarwish; Ahmed Al-Rumayyan; Hamad Alkhalaf; Mohammad A. M. Wadaan; Majid Alfadhel
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
Academic Journal
Mohammad Bosaeed; Ebrahim Mahmoud; Mohammad Hussein; Ahmad Alharbi; Abdulrahman Alsaedy; Adel Alothman; Majed Aljeraisy; Hajar Alqahtani; Marwan Nashabat; Badriah Almutairi; Manar Almaghaslah; Omar Aldibasi; Sameera AlJohani; Abderrezak Bouchama; Yaseen Arabi; Ahmad Alaskar
Trials, Vol 21, Iss 1, Pp 1-3 (2020)
Academic Journal
Majid Alfadhel; Muhammad Umair; Bader Almuzzaini; Saif Alsaif; Sulaiman A. AlMohaimeed; Maher A. Almashary; Wardah Alharbi; Latifah Alayyar; Abdulrahman Alasiri; Mariam Ballow; Abdulkareem AlAbdulrahman; Monira Alaujan; Marwan Nashabat; Ali Al‐Odaib; Waleed Altwaijri; Ahmed Al‐Rumayyan; Muhammad T. Alrifai; Ahmed Alfares; Mohammed AlBalwi; Brahim Tabarki
Annals of Clinical and Translational Neurology, Vol 6, Iss 10, Pp 2097-2103 (2019)
Academic Journal
Journal of Biochemical and Clinical Genetics, Vol 2, Iss 1, Pp 65-69 (2019)
Academic Journal
Marwan Nashabat; Abdulrahman Obaid; Fuad Al Mutairi; Mohammed Saleh; Mohammed Elamin; Hind Ahmed; Faroug Ababneh; Wafaa Eyaid; Abdulrahman Alswaid; Lina Alohali; Eissa Faqeih; Majed Aljeraisy; Mohamed A. Hussein; Ali Alasmari; Majid Alfadhel
BMC Pediatrics, Vol 19, Iss 1, Pp 1-9 (2019)
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[AR] Marwan Nashabat
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