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1Academic Journal
المؤلفون: Ashraf Hussain, Maria Fernanda Villalba, Dayna Morel Swols, Rayan Abou Khzam, Brittney Keira Johnson, LéShon Peart, Sarha D’Haiti, Alana L. Grajewski, Mustafa Tekin, Ta Chen Chang, Guney Bademci
المصدر: Scientific Reports, Vol 15, Iss 1, Pp 1-8 (2025)
مصطلحات موضوعية: Anterior segment anomaly, Cataract, Genome sequencing, Glaucoma, Congenital, Ethnicities, Medicine, Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2045-2322
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2Academic Journal
المؤلفون: LéShon Peart, Mustafa Tekin
المصدر: Balkan Medical Journal, Vol 41, Iss 3, Pp 161-166 (2024)
مصطلحات موضوعية: Medicine
وصف الملف: electronic resource
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3Academic Journal
المؤلفون: 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
المصدر: Human Genomics, Vol 17, Iss 1, Pp 1-10 (2023)
مصطلحات موضوعية: Genetic, Gene variants, Multicultural, Minority, Racial and ethnic, Sensorineural hearing loss, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1479-7364
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4Academic Journal
المؤلفون: Stephanie Bivona, Carson Smith, Guney Bademci, LéShon Peart, Joanna Gonzalez, Nicholas Borja, Stephan Zuchner, Mustafa Tekin
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101018- (2024)
وصف الملف: electronic resource
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5Academic Journal
المؤلفون: Carson Smith, Dayna Morel, LéShon Peart, Memoona Ramzan, Mustafa Tekin
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101150- (2024)
وصف الملف: electronic resource
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6Academic JournalSNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation
المؤلفون: 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
المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-19 (2024)
مصطلحات موضوعية: Science
Relation: https://doi.org/10.1038/s41467-024-45933-5; https://doaj.org/toc/2041-1723; https://doaj.org/article/bcbaa63ccab94af78752b6e4bbdb83c5
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7Academic Journal
المؤلفون: 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
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100150- (2023)
Relation: http://www.sciencedirect.com/science/article/pii/S2949774423001504; https://doaj.org/toc/2949-7744; https://doaj.org/article/c8aa0841127942399e8f99339e00529f
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8Academic Journal
المؤلفون: 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
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100165- (2023)
Relation: http://www.sciencedirect.com/science/article/pii/S2949774423001656; https://doaj.org/toc/2949-7744; https://doaj.org/article/8d6fbcfe67924aceaddb07d1959979c0
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9Academic Journal
المؤلفون: 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
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100707- (2023)
Relation: http://www.sciencedirect.com/science/article/pii/S2949774423007070; https://doaj.org/toc/2949-7744; https://doaj.org/article/f83e52f4765d42f396ee5f4eeeb65a82