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1دورية أكاديمية
المؤلفون: Sheng-Jia Lin, Barbara Vona, Tracy Lau, Kevin Huang, Maha S. Zaki, Huda Shujaa Aldeen, Ehsan Ghayoor Karimiani, Clarissa Rocca, Mahmoud M. Noureldeen, Ahmed K. Saad, Cassidy Petree, Tobias Bartolomaeus, Rami Abou Jamra, Giovanni Zifarelli, Aditi Gotkhindikar, Ingrid M. Wentzensen, Mingjuan Liao, Emalyn Elise Cork, Pratishtha Varshney, Narges Hashemi, Mohammad Hasan Mohammadi, Aboulfazl Rad, Juanita Neira, Mehran Beiraghi Toosi, Cordula Knopp, Ingo Kurth, Thomas D. Challman, Rebecca Smith, Asmahan Abdalla, Thomas Haaf, Mohnish Suri, Manali Joshi, Wendy K. Chung, Andres Moreno-De-Luca, Henry Houlden, Reza Maroofian, Gaurav K. Varshney
المصدر: Genome Medicine, Vol 15, Iss 1, Pp 1-24 (2023)
مصطلحات موضوعية: 2-oxo acid dehydrogenase, OGDHL, Genetic compensation, Disease model, Zebrafish, Neurodevelopmental disorders, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1756-994XTest
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2دورية أكاديمية
المؤلفون: Shujuan Zhao, Kedous Y. Mekbib, Martijn A. van der Ent, Garrett Allington, Andrew Prendergast, Jocelyn E. Chau, Hannah Smith, John Shohfi, Jack Ocken, Daniel Duran, Charuta G. Furey, Le Thi Hao, Phan Q. Duy, Benjamin C. Reeves, Junhui Zhang, Carol Nelson-Williams, Di Chen, Boyang Li, Timothy Nottoli, Suxia Bai, Myron Rolle, Xue Zeng, Weilai Dong, Po-Ying Fu, Yung-Chun Wang, Shrikant Mane, Paulina Piwowarczyk, Katie Pricola Fehnel, Alfred Pokmeng See, Bermans J. Iskandar, Beverly Aagaard-Kienitz, Quentin J. Moyer, Evan Dennis, Emre Kiziltug, Adam J. Kundishora, Tyrone DeSpenza, Ana B. W. Greenberg, Seblewengel M. Kidanemariam, Andrew T. Hale, James M. Johnston, Eric M. Jackson, Phillip B. Storm, Shih-Shan Lang, William E. Butler, Bob S. Carter, Paul Chapman, Christopher J. Stapleton, Aman B. Patel, Georges Rodesch, Stanislas Smajda, Alejandro Berenstein, Tanyeri Barak, E. Zeynep Erson-Omay, Hongyu Zhao, Andres Moreno-De-Luca, Mark R. Proctor, Edward R. Smith, Darren B. Orbach, Seth L. Alper, Stefania Nicoli, Titus J. Boggon, Richard P. Lifton, Murat Gunel, Philip D. King, Sheng Chih Jin, Kristopher T. Kahle
المصدر: Nature Communications, Vol 14, Iss 1, Pp 1-23 (2023)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2041-1723Test
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3دورية أكاديمية
المؤلفون: Rauan Kaiyrzhanov, Maha S. Zaki, Tracy Lau, Sambuddha Sen, Reza Azizimalamiri, Mina Zamani, Gözde Yeşil Sayin, Taru Hilander, Stephanie Efthymiou, Viorica Chelban, Ruth Brown, Kyle Thompson, Maria Irene Scarano, Jaya Ganesh, Kairgali Koneev, Ismail Musab Gülaçar, Richard Person, Dinara Sadykova, Yerdan Maidyrov, Tahereh Seifi, Aizhan Zadagali, Geneviève Bernard, Katrina Allis, Houda Zghal Elloumi, Amanda Lindy, Ehsan Taghiabadi, Sumit Verma, Rachel Logan, Brian Kirmse, Renkui Bai, Shaimaa M. Khalaf, Mohamed S. Abdel‐Hamid, Alireza Sedaghat, Gholamreza Shariati, Mahmoud Issa, Jawaher Zeighami, Hasnaa M. Elbendary, Garry Brown, Robert W. Taylor, Hamid Galehdari, Joseph J. Gleeson, Christopher J. Carroll, James A. Cowan, Andres Moreno‐De‐Luca, Henry Houlden, Reza Maroofian
المصدر: Annals of Clinical and Translational Neurology, Vol 9, Iss 12, Pp 2025-2035 (2022)
مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2328-9503Test
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4دورية أكاديمية
المؤلفون: Hormos Salimi Dafsari, Joshua G. Pemberton, Elizabeth A. Ferrer, Tony Yammine, Chantal Farra, Mohammad Hasan Mohammadi, Ehsan Ghayoor Karimiani, Narges Hashemi, Mirna Souaid, Sandra Sabbagh, Paria Najarzadeh Torbati, Suliman Khan, Emmanuel Roze, Andres Moreno‐De‐Luca, Aida M. Bertoli‐Avella, Henry Houlden, Tamas Balla, Reza Maroofian
المصدر: Annals of Clinical and Translational Neurology, Vol 9, Iss 9, Pp 1345-1358 (2022)
مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2328-9503Test
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5
المؤلفون: Adam J. Kundishora, Garrett Allington, Stephen McGee, Kedous Y. Mekbib, Vladimir Gainullin, Andrew T. Timberlake, Carol Nelson-Williams, Emre Kiziltug, Hannah Smith, Jack Ocken, John Shohfi, August Allocco, Phan Q. Duy, Aladine A. Elsamadicy, Weilai Dong, Shujuan Zhao, Yung-Chun Wang, Hanya M. Qureshi, Michael L. DiLuna, Shrikant Mane, Irina R. Tikhonova, Po-Ying Fu, Christopher Castaldi, Francesc López-Giráldez, James R. Knight, Charuta G. Furey, Bob S. Carter, Shozeb Haider, Andres Moreno-De-Luca, Seth L. Alper, Murat Gunel, Francisca Millan, Richard P. Lifton, Rebecca I. Torene, Sheng Chih Jin, Kristopher T. Kahle
المصدر: Nature Medicine. 29:667-678
مصطلحات موضوعية: General Medicine, General Biochemistry, Genetics and Molecular Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5ddcb39fe7c83d567c19dfb555a653bfTest
https://doi.org/10.1038/s41591-023-02238-2Test -
6
المؤلفون: Sara Nagy, Tracy Lau, Shahryar Alavi, Ehsan Ghayoor Karimiani, Jalal Vallian, Bobby G. Ng, Samaneh Noroozi Asl, Javad Akhondian, Amir Bahreini, Omid Yaghini, Prech Uapinyoying, Carsten Bonnemann, Hudson H. Freeze, Vajira H. W. Dissanayake, Nirmala D. Sirisena, Miriam Schmidts, Henry Houlden, Andres Moreno‐De‐Luca, Reza Maroofian
المصدر: Clinical Genetics. 102:530-536
مصطلحات موضوعية: Brain Diseases, Seizures, Intellectual Disability, Homozygote, Genetics, Humans, Membrane Proteins, Muscle, Skeletal, Mannosyltransferases, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::046d1adaf8c17c09ac4670427d17c5e5Test
https://doi.org/10.1111/cge.14208Test -
7
المؤلفون: Shujuan Zhao, Kedous Y. Mekbib, Martijn A. van der Ent, Garrett Allington, Andrew Prendergast, Jocelyn E. Chau, Hannah Smith, John Shohfi, Jack Ocken, Daniel Duran, Charuta G. Furey, Hao Thi Le, Phan Q. Duy, Benjamin C. Reeves, Junhui Zhang, Carol Nelson-Williams, Di Chen, Boyang Li, Timothy Nottoli, Suxia Bai, Myron Rolle, Xue Zeng, Weilai Dong, Po-Ying Fu, Yung-Chun Wang, Shrikant Mane, Paulina Piwowarczyk, Katie Pricola Fehnel, Alfred Pokmeng See, Bermans J. Iskandar, Beverly Aagaard-Kienitz, Adam J. Kundishora, Tyrone DeSpenza, Ana B.W. Greenberg, Seblewengel M. Kidanemariam, Andrew T. Hale, James M. Johnston, Eric M. Jackson, Phillip B. Storm, Shih-Shan Lang, William E. Butler, Bob S. Carter, Paul Chapman, Christopher J. Stapleton, Aman B. Patel, Georges Rodesch, Stanislas Smajda, Alejandro Berenstein, Tanyeri Barak, E. Zeynep Erson-Omay, Hongyu Zhao, Andres Moreno-De-Luca, Mark R. Proctor, Edward R. Smith, Darren B. Orbach, Seth L. Alper, Stefania Nicoli, Titus J. Boggon, Richard P. Lifton, Murat Gunel, Philip D. King, Sheng Chih Jin, Kristopher T. Kahle
المصدر: bioRxiv
مصطلحات موضوعية: Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ee1c52b11848fed120127d869285bb3Test
https://doi.org/10.1101/2023.03.18.532837Test -
8
المؤلفون: Amrita K. Singh, Stephen Viviano, Garrett Allington, Stephen McGee, Emre Kiziltug, Kedous Y. Mekbib, John P. Shohfi, Phan Q. Duy, Tyrone DeSpenza, Charuta G Furey, Benjamin C. Reeves, Hannah Smith, Shaojie Ma, André M. M. Sousa, Adriana Cherskov, August Allocco, Carol Nelson-Williams, Shozeb Haider, Syed R. A. Rizvi, Seth L. Alper, Nenad Sestan, Hermela Shimelis, Lauren K. Walsh, Richard P. Lifton, Andres Moreno-De-Luca, Sheng Chih Jin, Paul Kruszka, Engin Deniz, Kristopher T. Kahle
المصدر: medRxiv
مصطلحات موضوعية: Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d5b4777feae2c28d2d2914f370fe856Test
https://doi.org/10.1101/2023.03.19.23287455Test -
9
المؤلفون: Tyrone DeSpenza, Emre Kiziltug, Garrett Allington, Daniel G. Barson, David O’Connor, Stephanie M. Robert, Kedous Y. Mekbib, Pranav Nanda, Ana Greenberg, Amrita Singh, Phan Q. Duy, Francesca Mandino, Shujuan Zhao, Anna Lynn, Benjamin C. Reeves, Arnaud Marlier, Stephanie A. Getz, Carol Nelson-Williams, Hermela Shimelis, Lauren K. Walsh, Jinhui Zhang, Wei Wang, Annaliese OuYang, Hannah Smith, William Butler, Bob S. Carter, Engin Deniz, Evelyn M. R. Lake, Todd Constable, Murat Gûnel, Richard P. Lifton, Seth L. Alper, Sheng Chih Jin, Michael C. Crair, Andres Moreno-De-Luca, Bryan W. Luikart, Kristopher T. Kahle
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7667e40127dd5663eea3c40a7991dcaaTest
https://doi.org/10.1101/2023.03.18.533275Test -
10
المؤلفون: Adam J. Kundishora, Benjamin C. Reeves, Andres Moreno-De-Luca, Christopher S. Hong, Stephanie M. Robert, Aladine A. Elsamadicy, Dominick Tuason, Michael L. DiLuna
المصدر: Journal of Neurosurgery: Case Lessons. 5
مصطلحات موضوعية: General Medicine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::08e48023e422124c00714ae8e749dc4dTest
https://doi.org/10.3171/case22481Test