학술논문
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'학술논문'
에서 검색결과 64건 | 목록
1~20
Academic Journal
Nebal Waill Saadi; Basma Adel Ibrahim; Qusay Abed Fahad; Henry Houlden; Rahema Mohammad; Mina Zamani; Adel A. Kareem; Ali Kadhim Al-Husseinawi; Hayder Kadhim Jabbar; Saif Hamed Farhan; Omar A.Thu Noon; Mays Al-Tai
Brain Disorders, Vol 20, Iss , Pp 100294- (2025)
Academic Journal
Avinash V. Dharmadhikari; Maria Alba Abad; Sheraz Khan; Reza Maroofian; Tristan T. Sands; Farid Ullah; Itaru Samejima; Yanwen Shen; Martin A. Wear; Kiara E. Moore; Elena Kondakova; Natalia Mitina; Theres Schaub; Grace K. Lee; Christine H. Umandap; Sara M. Berger; Alejandro D. Iglesias; Bernt Popp; Rami Abou Jamra; Heinz Gabriel; Stefan Rentas; Alyssa L. Rippert; Christopher Gray; Kosuke Izumi; Laura K. Conlin; Daniel C. Koboldt; Theresa Mihalic Mosher; Scott E. Hickey; Dara V. F. Albert; Haley Norwood; Amy Feldman Lewanda; Hongzheng Dai; Pengfei Liu; Tadahiro Mitani; Dana Marafi; Hatice Koçak Eker; Davut Pehlivan; Jennifer E. Posey; Natalie C. Lippa; Natalie Vena; Erin L. Heinzen; David B. Goldstein; Cyril Mignot; Jean-Madeleine de Sainte Agathe; Nouriya Abbas Al-Sannaa; Mina Zamani; Saeid Sadeghian; Reza Azizimalamiri; Tahere Seifia; Maha S. Zaki; Ghada M. H. Abdel-Salam; Mohamed S. Abdel-Hamid; Lama Alabdi; Fowzan Sami Alkuraya; Heba Dawoud; Aya Lofty; Peter Bauer; Giovanni Zifarelli; Erum Afzal; Faisal Zafar; Stephanie Efthymiou; Daniel Gossett; Meghan C. Towne; Raey Yeneabat; Belen Perez-Duenas; Ana Cazurro-Gutierrez; Edgard Verdura; Veronica Cantarin-Extremera; Ana do Vale Marques; Aleksandra Helwak; David Tollervey; Sandeep N. Wontakal; Vimla S. Aggarwal; Jill A. Rosenfeld; Victor Tarabykin; Shinya Ohta; James R. Lupski; Henry Houlden; William C. Earnshaw; Erica E. Davis; A. Arockia Jeyaprakash; Jun Liao
Nature Communications, Vol 16, Iss 1, Pp 1-24 (2025)
Academic Journal
Isle Bastille; Lucy Lee; Cynthia Moncada-Reid; Wei-Ming Yu; Austen Sitko; Andrea Yung; Mina Zamani; Nele Christophersen; Reza Maroofian; Hamid Galehdari; Norbert Babai; Barbara Vona; Tobias Moser; Lisa Goodrich
Cell Reports, Vol 44, Iss 6, Pp 115796- (2025)
Academic Journal
Rezvan Zabihi; Mina Zamani; Majid Aminzadeh; Niloofar Chamanrou; Fatemeh Zahra Kiani; Tahere Seifi; Jawaher Zeighami; Tahere Yadegari; Alireza Sedaghat; Alihossein Saberi; Mohammad Hamid; Gholamreza Shariati; Hamid Galehdari
Frontiers in Genetics, Vol 15 (2024)
Academic Journal
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
Annals of Clinical and Translational Neurology, Vol 9, Iss 12, Pp 2025-2035 (2022)
Academic Journal
Atefe Papi; Mina Zamani; Gholamreza Shariati; Alireza Sedaghat; Tahere Seifi; Samira Negahdari; Sahar Sadat Sedighzadeh; Jawaher Zeighami; Alihossein Saberi; Mohammad Hamid; Hamid Galehdari
Molecular Genetics & Genomic Medicine, Vol 11, Iss 2, Pp n/a-n/a (2023)
Academic Journal
Journal of Medical Microbiology and Infectious Diseases, Vol 8, Iss 4, Pp 166-171 (2020)
Academic Journal
Mina Zamani; Tahereh Seifi; Jawaher Zeighami; Neda Mazaheri; Emad Jahangirnezhad; Minoo Gholamzadeh; Alireza Sedaghat; Gholamreza Shariati; Hamid Galehdari
Basic and Clinical Neuroscience, Vol 11, Iss 4, Pp 549-556 (2020)
Academic Journal
Mina Zamani; Ali-Mohammad Foroughmand; Mohammad-Reza Hajjari; Babak Bakhshinejad; Rory Johnson; Hamid Galehdari
Frontiers in Oncology, Vol 12 (2022)
Academic Journal
Network Biology, Vol 10, Iss 1, Pp 1-9 (2020)
Academic Journal
Iranian Journal of Astronomy and Astrophysics, Vol 6, Iss 1, Pp 9-23 (2019)
Academic Journal
Frontiers in Physiology, Vol 11 (2021)
Academic Journal
Intractable & Rare Diseases Research. 2020, 9(1):48
Academic Journal
Samira Negahdari; Mina Zamani; Tahereh Seifi; Sahar Sedighzadeh; Neda Mazaheri; Jawaher Zeighami; Alireza Sedaghat; Alihossein Saberi; Mohammad Hamid; Bijan keikhaei; Ramin Radpour; Gholamreza Shariati; Hamid Galehdari
International Journal of Preventive Medicine, Vol 11, Iss 1, Pp 117-117 (2020)
Academic Journal
Hormos Salimi Dafsari; Celine Deneubourg; Kritarth Singh; Reza Maroofian; Zita Suprenant; Ay Lin Kho; Neil J Ingham; Karen P Steel; Preethi Sheshadri; Franciska Baur; Lea Hentrich; Birgit Gerisch; Mina Zamani; Cesar Alves; Ata Siddiqui; Haidar S Dafsari; Mehri Salari; Anthony E. Lang; Michael Harris; Alice Abdelaleem; Saeid Sadeghian; Reza Azizimalamiri; Hamid Galehdari; Gholamreza Shariati; Alireza Sedaghat; Jawaher Zeighami; Daniel Calame; Dana Marafi; Ruizhi Duan; Adrian Boehnke; Gary D. Clark; Jill A. Rosenfeld; Carrie A. Mohila; Dora Steel; Saurabh Chopra; Suvasini Sharma; Nicolai Kohlschmidt; Steffi Patzer; Afshin Saffari; Darius Ebrahimi‐Fakhari; Büşra Eser Çavdartepe; Irene J Chang; Erika Beckman; Renate Peters; Andrew Paul Fennell; Bernice Lo; Luisa Averdunk; Felix Distelmaier; Martina Baethmann; Frances Elmslie; Kairit Joost; Sheela Nampoothiri; Dhanya Yesodharan; Hanna Mandel; Amy Kimball; Antonie D. Kline; Cyril Mignot; Boris Keren; Vincent Laugel; Katrin Õunap; Kalpana Devadathan; Frederique M.C. van Berkestijn; Arpana Silwal; Saskia Koene; Sumit Verma; Mohammed Yousuf Karim; Chahynez Boubidi; Majid Aziz; Gehad ElGhazali; Lauren Mattas; Mohammad Miryounesi; Farzad Hashemi‐Gorji; Shahryar Alavi; Nayereh Nouri; Mehrdad Noruzinia; Saeideh Kavousi; Arveen Kamath; Sandeep Jayawant; Russell Saneto; Nourelhoda A. Haridy; Pinar Ozkan Kart; Ali Cansu; Madeleine Joubert; Claire Beneteau; Kyra E. Stuurman; Martina Wilke; Tahsin Stefan Barakat; Homa Tajsharghi; Annarita Scardamaglia; Sadeq Vallian; Semra Hız; Ali Shoeibi; Reza Boostani; Narges Hashemi; Meisam Babaei; Norah Saleh Alsaleh; Julie Porter; Tania Attié‐Bitach; Pauline Marzin; Dorota Wicher; Jessica I. Gold; Elisabeth Schuler; Amna Kashgari; Rakan F. Alanazi; Wafaa Eyaid; Marc Engelen; Mirjam Langeveld; Burkhard Stüve; Yun Li; Gökhan Yigit; Bernd Wollnik; Mariana H.G Monje; Dimitri Krainc; Niccolò E. Mencacci; Somayeh Bakhtiari; Michael Kruer; Emanuela Argilli; Elliott Sherr; Yalda Jamshidi; Ehsan Ghayoor Karimiani; Yiu Wing Sunny Cheung; Ivan Karin; Giovanni Zifarelli; Peter Bauer; Wendy K Chung; James R. Lupski; Manju A. Kurian; Jörg Dötsch; Jürgen‐Christoph von Kleist‐Retzow; Thomas Klopstock; Matias Wagner; Calvin Yip; Andreas Roos; Rita Carsetti; Carlo Dionisi‐Vici; Mathias Gautel; Michael R Duchen; Adam Antebi; Henry Houlden; Manolis Fanto; Heinz Jungbluth
Dafsari, H S, Deneubourg, C, Singh, K, Maroofian, R, Suprenant, Z, Kho, A L, Ingham, N J, Steel, K P, Sheshadri, P, Baur, F, Hentrich, L, Gerisch, B, Zamani, M, Alves, C, Siddiqui, A, Dafsari, H S, Salari, M, Lang, A E, Harris, M, Abdelaleem, A, Sadeghian, S, Azizimalamiri, R, Galehdari, H, Shariati, G, Sedaghat, A, Zeighami, J, Calame, D, Marafi, D, Duan, R, Boehnke, A, Clark, G D, Rosenfeld, J A, Mohila, C A, Steel, D, Chopra, S, Sharma, S, Kohlschmidt, N, Patzer, S, Saffari, A, Ebrahimi-Fakhari, D, Çavdartepe, B E, Chang, I J, Beckman, E, Peters, R, Fennell, A P, Lo, B, Averdunk, L, Distelmaier, F, Baethmann, M, Elmslie, F, Joost, K, Nampoothiri, S, Yesodharan, D, Mandel, H, Kimball, A, Kline, A D, Mignot, C, Keren, B, Laugel, V, Õunap, K, Devadathan, K, van Berkestijn, F M C, Silwal, A, Koene, S, Verma, S, Karim, M Y, Boubidi, C, Aziz, M, ElGhazali, G, Mattas, L, Miryounesi, M, Hashemi-Gorji, F, Alavi, S, Nouri, N, Noruzinia, M, Kavousi, S, Kamath, A, Jayawant, S, Saneto, R, Haridy, N A, Kart, P O, Cansu, A, Joubert, M, Beneteau, C, Stuurman, K E, Wilke, M, Barakat, T S, Tajsharghi, H, Scardamaglia, A, Vallian, S, Hız, S, Shoeibi, A, Boostani, R, Hashemi, N, Babaei, M, Alsaleh, N S, Porter, J, Attié-Bitach, T, Marzin, P, Wicher, D, Gold, J I, Schuler, E, Kashgari, A, Alanazi, R F, Eyaid, W, Engelen, M, Langeveld, M, Stüve, B, Li, Y, Yigit, G, Wollnik, B, Monje, M H G, Krainc, D, Mencacci, N E, Bakhtiari, S, Kruer, M, Argilli, E, Sherr, E, Jamshidi, Y, Karimiani, E G, Cheung, Y W S, Karin, I, Zifarelli, G, Bauer, P, Chung, W K, Lupski, J R, Kurian, M A, Dötsch, J, von Kleist-Retzow, J-C, Klopstock, T, Wagner, M, Yip, C, Roos, A, Carsetti, R, Dionisi-Vici, C, Gautel, M, Duchen, M R, Antebi, A, Houlden, H, Fanto, M & Jungbluth, H 2025, 'Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism', Annals of Neurology, vol. 98, no. 5, pp. 932-950. https://doi.org/10.1002/ana.78013
Academic Journal
Rezvan Zabihi; Mina Zamani; Niloofar Chamanrou; Jawaher Zeighami; Tahere Seifi; Saeed Ashoori; Sahere Parvas; Tahere Yadegari; Fateme Mousavi; Elham Khajevandian; Moslem Sarvari; Kobra Shojaei; Pardis Nourbakhsh; Bijan Keikhaei; Majid Aminzadeh; Raha Ahmadi; Marzieh Mohammadi anaei; Alireza Sedaghat; Alihossein Saberi; Mohammad Hamid; Golamreza Shariati; Hamid Galehdari
Clinical Genetics.
Academic Journal
Yuji Nakamura; Issei S Shimada; Reza Maroofian; Micol Falabella; Maha S Zaki; Masanori Fujimoto; Emi Sato; Hiroshi Takase; Shiho Aoki; Akihiko Miyauchi; Eriko Koshimizu; Satoko Miyatake; Yuko Arioka; Mizuki Honda; Takayoshi Higashi; Fuyuki Miya; Yukimune Okubo; Isamu Ogawa; Annarita Scardamaglia; Mohammad Miryounesi; Sahar Alijanpour; Farzad Ahmadabadi; Peter Herkenrath; Hormos Salimi Dafsari; Clara Velmans; Mohammed Al Balwi; Antonio Vitobello; Anne-Sophie Denommé-Pichon; Médéric Jeanne; Antoine Civit; Mohamed S Abdel-Hamid; Hamed Naderi; Hossein Darvish; Somayeh Bakhtiari; Michael C Kruer; Christopher J Carroll; Ehsan Ghayoor Karimiani; Rozhgar A Khailany; Talib Adil Abdulqadir; Mehmet Ozaslan; Peter Bauer; Giovanni Zifarelli; Tahere Seifi; Mina Zamani; Chadi Al Alam; Javeria Raza Alvi; Tipu Sultan; Stephanie Efthymiou; Simon A S Pope; Kazuhiro Haginoya; Tamihide Matsunaga; Hitoshi Osaka; Naomichi Matsumoto; Norio Ozaki; Yasuyuki Ohkawa; Shinya Oki; Tatsuhiko Tsunoda; Robert D S Pitceathly; Yoshitaka Taketomi; Henry Houlden; Makoto Murakami; Yoichi Kato; Shinji Saitoh
Brain
Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy
Academic Journal
Maureen Jacob; Heike Kölbel; Philip Harrer; Robert Kopajtich; Pinki Munot; Melanie T Achleitner; Susann Badmann; Melanie Brugger; Theresa Brunet; Gisèle Bonne; Marta Codina; Laura Ebner; Peyman Eshraghi; Katharina Eyring; Ahmad Shah Farhat; René G Feichtinger; Elisabeth Graf; Anna Marcé-Grau; Andreas Hahn; Henry Houlden; Ehsan Ghayoor Karimiani; Véronique Manel; Katharina Mayerhanser; Juliette Nectoux; Isabelle Nelson; Rahul Phadke; Holger Prokisch; Saeid Sadeghian; Alice Saparov; Anne Schänzer; Ulrike Schara-Schmidt; Julia Schmidt; Rahel Schuler; Caroline Sewry; Gholamreza Shariati; Silke Slanz; Dmitrii Smirnov; Rivka Sukenik-Halevy; Homa Tajsharghi; Mehran Beiraghi Toosi; Laura Trujillano; Joachim Weis; Louise C Wilson; Rabah Ben Yaou; Mina Zamani; Michael Zech; Jana Zschüntzsch; Uwe Kornak; David Goméz-Andrés; Reza Maroofian; Juliane Winkelmann; Andreas Roos; Felix Distelmaier; Johannes A Mayr; Matias Wagner
Brain.
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