학술논문
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'학술논문'
에서 검색결과 365건 | 목록
1~20
Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy
Academic Journal
Jacob, Maureen; Kölbel, Heike; Harrer, Philip; Kopajtich, Robert; Munot, Pinki; Achleitner, Melanie T.; Badmann, Susann; Brugger, Melanie; Brunet, Theresa; Bonne, Gisèle; Codina, Marta; Ebner, Laura; Eshraghi, Peyman; Eyring, Katharina; Farhat, Ahmad Shah; Feichtinger, René G.; Graf, Elisabeth; Marcé-Grau, Anna; Hahn, Andreas; Houlden, Henry; Karimiani, Ehsan Ghayoor; Manel, Véronique; Mayerhanser, Katharina; Nectoux, Juliette; Nelson, Isabelle; Phadke, Rahul; Prokisch, Holger; Sadeghian, Saeid; Saparov, Alice; Schänzer, Anne; Schara-Schmidt, Ulrike; Schmidt, Julia; Schuler, Rahel; Sewry, Caroline; Shariati, Gholamreza; Slanz, Silke; Smirnov, Dmitrii; Sukenik-Halevy, Rivka; Tajsharghi, Homa; Toosi, Mehran Beiraghi; Trujillano, Laura; Weis, Joachim; Wilson, Louise C.; Yaou, Rabah Ben; Zamani, Mina; Zech, Michael; Zschüntzsch, Jana; Kornak, Uwe; Goméz-Andrés, David; Maroofian, Reza; Winkelmann, Juliane; Roos, Andreas; Distelmaier, Felix; Mayr, Johannes A.; Wagner, Matias
Brain. 149(2):653-667
Academic Journal
Kaiyrzhanov, Rauan; Thompson, Kyle; Efthymiou, Stephanie; Mukushev, Askhat; Zharylkassyn, Akbota; Prasad, Chitra; Ghayoor Karimiani, Ehsan; Alvi, Javeria Raza; Niyazov, Dmitriy; Alahmad, Ahmad; Babaei, Meisam; Tajsharghi, Homa; Albash, Buthaina; Alaqeel, Ahmad; Charif, Majida; Hashemi, Narges; Heidari, Morteza; Kalantar, Seyed Mehdi; Lenaers, Guy; Mehrjardi, Mohammad Yahya Vahidi; Srinivasan, Varunvenkat M.; Gowda, Vykuntaraju K.; Mirabutalebi, Seyed Hamidreza; Carere, Deanna Alexis; Movahedinia, Mojtaba; Murphy, David; McFarland, Robert; Abdel-Hamid, Mohamed S.; Elhossini, Rasha M.; Alavi, Shahryar; Napier, Melanie; Belanger-Quintana, Amaya; Prasad, Asuri N.; Jakobczyk, Jessica; Roubertie, Agathe; Rupar, Tony; Sultan, Tipu; Toosi, Mehran Beiraghi; Sazanov, Leonid; Severino, Mariasavina; Houlden, Henry; Taylor, Robert W.; Maroofian, Reza
Brain Communications. 7(1)
Conference
Foroughi, Sepehr; Salehzehi, Shahed; Hashemi, Mohammad Ebrahim; Hosseini, Parisa; Kobravi, Hamid Reza; Hashemi, Narges; Toosi, Mehran Beiraghi; Akhondian, Javad
2024 31st National and 9th International Iranian Conference on Biomedical Engineering (ICBME) Biomedical Engineering (ICBME), 2024 31st National and 9th International Iranian Conference on. :13-19 Nov, 2024
Academic Journal
Parisa Hosseini; Mohammad Ebrahim Hashemi; Zeinab Ziaee Fard; Donya Zafar Jafarzadeh Noghani; Zahra Ghanbari; Narges Hashemi; Mehran Beiraghi Toosi; Javad Akhondian; Ali Ghanaei Chamanabad; Tahereh Sadeghi; Hamid Reza Kobravi
BioMedical Engineering OnLine, Vol 24, Iss 1, Pp 1-16 (2025)
Academic Journal
Mohammadi, Mahmoud; Shervin Badv, Reza; Zamani, GholamReza; Beiraghi Toosi, Mehran; Heidari, Morteza; Rezaei, Zahra; Eslamiyeh, Hossein
Iranian Journal of Child Neurology. 19(4)
Academic Journal
Reza Nejad Shahrokh Abadi; Farrokh Seilanian Toosi; Ahmadreza Mashreghi; Mehran Beiraghi Toosi; Hamid Khalesi; Narges Hashemi
Brain Disorders, Vol 19, Iss , Pp 100258- (2025)
Academic Journal
Salpietro, Vincenzo; Maroofian, Reza; Zaki, Maha S.; Wangen, Jamie; Ciolfi, Andrea; Barresi, Sabina; Efthymiou, Stephanie; Lamaze, Angelique; Aughey, Gabriel N.; Al Mutairi, Fuad; Rad, Aboulfazl; Rocca, Clarissa; Calì, Elisa; Accogli, Andrea; Zara, Federico; Striano, Pasquale; Mojarrad, Majid; Tariq, Huma; Giacopuzzi, Edoardo; Taylor, Jenny C.; Oprea, Gabriela; Skrahina, Volha; Rehman, Khalil Ur; Abd Elmaksoud, Marwa; Bassiony, Mahmoud; El Said, Huda G.; Abdel-Hamid, Mohamed S.; Al Shalan, Maha; Seo, Gohun; Kim, Sohyun; Lee, Hane; Khang, Rin; Issa, Mahmoud Y.; Elbendary, Hasnaa M.; Rafat, Karima; Marinakis, Nikolaos M.; Traeger-Synodinos, Joanne; Ververi, Athina; Sourmpi, Mara; Eslahi, Atieh; Khadivi Zand, Farhad; Beiraghi Toosi, Mehran; Babaei, Meisam; Jackson, Adam; Hannah, Michael G.; Bugiardini, Enrico; Bertini, Enrico; Kriouile, Yamna; El-Khorassani, Mohamed; Aguennouz, Mhammed; Groppa, Stanislav; Karashova, Blagovesta M.; Goraya, Jatinder S.; Sultan, Tipu; Avdjieva, Daniela; Kathom, Hadil; Tincheva, Radka; Banu, Selina; Veggiotti, Pierangelo; Verrotti, Alberto; Lanari, Marcello; Savasta, Salvatore; Macaya, Alfons; Garavaglia, Barbara; Borgione, Eugenia; Papacostas, Savvas; Vikelis, Michail; Chelban, Viorica; Kaiyrzhanov, Rauan; Cortese, Andrea; Sullivan, Roisin; Papanicolaou, Eleni Z.; Dardiotis, Efthymios; Maqbool, Shazia; Ibrahim, Shahnaz; Kirmani, Salman; Rana, Nuzhat N.; Atawneh, Osama; Lim, Shen-Yang; Zuccotti, Gian V.; Marseglia, Gian L.; Esposito, Susanna; Shaikh, Farooq; Cogo, Paola; Corsello, Giovanni; Mangano, Salvatore; Nardello, Rosaria; Mangano, Donato; Scardamaglia, Annarita; Koutsis, George; Scuderi, Carmela; Ferrara, Pietro; Morello, Giovanna; Zollo, Massimo; Berni-Canani, Roberto; Terracciano, Luigi M.; Sisto, Antonio; Di Fabio, Sandra; Strano, Federica; Scorrano, Giovanna; Di Bella, Saverio; Di Francesco, Ludovica; Manizha, Ganieva; Isrofilov, Maksud; Guliyeva, Ulviyya; Salayev, Kamran; Khachatryan, Samson; Xiromerisiou, Georgia; Spanaki, Cleanthe; Fiorillo, Chiara; Iacomino, Michele; Gaudio, Eugenio; Munell, Francina; Gagliano, Antonella; Jan, Farida; Chimenz, Roberto; Gitto, Eloisa; Iughetti, Lorenzo; Di Rosa, Gabriella; Maghnie, Mohamad; Pettoello-Mantovani, Massimo; Gupta, Neerja; Kabra, Madhulika; Benrhouma, Hanene; Tazir, Meriem; Bottone, Gabriella; Farello, Giovanni; Delvecchio, Maurizio; Di-Donato, Giulio; Obeid, Makram; Bakhtadze, Sophia; Saadi, Nebal W.; Miraglia-Del-Giudice, Michele; Maccarone, Rita; Triki, Chahnez C.; Kara, Majdi; Karimiani, Ehsan G.; Salih, Ahmed M.; Ramenghi, Luca A.; Seri, Marco; Di-Falco, Giovanna; Mandarà, Luana; Barrano, Giuseppe; Elisa, Maurizio; Cherubini, Enrico; Operto, Francesca F.; Valenzise, Mariella; Cattaneo, Antonino; Zazzeroni, Francesca; Alesse, Edoardo; Matricardi, Sara; Zafar, Faisal; Ullah, Ehsan; Afzal, Erum; Rahman, Fatima; Ahmed, Muhammad M.; Parisi, Pasquale; Spalice, Alberto; De Filippo, Maria; Licari, Amelia; Trebbi, Edoardo; Romano, Ferdinando; Heimer, Gali; Al-Khawaja, Issam; Al-Mutairi, Fuad; Alkuraya, Fowzan S.; Rizig, Mie; Shashkin, Chingiz; Zharkynbekova, Nazira; Koneyev, Kairgali; Bertoli-Avella, Aida; Pagnamenta, Alistair T.; Niceta, Marcello; Battini, Roberta; Corsello, Antonio; Leoni, Chiara; Chiarelli, Francesco; Dallapiccola, Bruno; Faqeih, Eissa Ali; Tallur, Krishnaraya K.; Alfadhel, Majid; Alobeid, Eman; Maddirevula, Sateesh; Mankad, Kshitij; Banka, Siddharth; Ghayoor-Karimiani, Ehsan; Tartaglia, Marco; Chung, Wendy K.; Green, Rachel; Jepson, James E. C.; Houlden, Henry
Am J Hum Genet
SYNAPS Study Group 2024, 'Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome', American Journal of Human Genetics, vol. 111, no. 1, pp. 200-210. https://doi.org/10.1016/j.ajhg.2023.11.012
SYNAPS Study Group 2024, 'Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome', American Journal of Human Genetics, vol. 111, no. 1, pp. 200-210. https://doi.org/10.1016/j.ajhg.2023.11.012
Academic Journal
Behnam Beizaei; Farrokh Seilanian Toosi; Yousef Shahmoradi; Javad Akhondian; Farah Ashrafzadeh; Mehran Beiraghi Toosi; Shima Imannezhad; Alireza Kooshki; Ehsan Hassan Nejad; Asma Payandeh; Nahid Tavakkolizadeh; AmirAli Moodi Ghalibaf; Narges Hashemi
Annals of Child Neurology, 32(1), pp.1-7 Jan, 2024
Academic Journal
Seilanian Toosi, Farrokh; Hashemi, Narges; Emadzadeh, Maryam; Hassan Nejad, Ehsan; Payandeh, Asma; Tavakkolizadeh, Nahid; Akhondian, Javad; Ashrafzadeh, Farah; Beiraghi Toosi, Mehran; Shahmoradi, Yousef; Pourzal, MohammadReza; Kazemi, Seyed Amirhossein; Moodi Ghalibaf, AmirAli; Beizaei, Behnam
Child's Nervous System. 40(7):2115-2123
Academic Journal
Nejad Shahrokh Abadi, Reza; Seilanian Toosi, Farrokh; Akhoondian, Javad; Beiraghi Toosi, Mehran; Ashrafzadeh, Farah; Nahayati, Mohammadali; Shekari, Shima; Kamali, Samaneh; Imannezhad, Shima; Niazi, Ahmad Sohrab; Hashemi, Narges
Iran J Child Neurol
Academic Journal
Hassan Mottaghi Mohaddam Shahri; Ehsan Hassan Nejad; Mehran Beiraghi Toosi; Abdolreza Malek; Asma Payandeh
Annals of Child Neurology, 31(3), pp.181-188 Jul, 2023
Academic Journal
Bita Barazandeh Shirvan; Najmeh Ahangari; Razie Rezaie; Parvaneh Layegh; Ehsan Ghayoor Karimiani; Narges Hashemi; Mehran Beiraghi Toosi
BMC Pediatrics, Vol 24, Iss 1, Pp 1-5 (2024)
Academic Journal
Shariati, Mohammad; Davoudi, Alireza; Boostani, Reza; Ashrafzadeh, Farah; Beiraghi Toosi, Mehran; Todarbary, Nafiseh; Akhondian, Javad; Hashemi, Narges; Sadr-Nabavi, Ariane
Egyptian Journal of Medical Human Genetics. 25(1)
Academic Journal
Bita Barazandeh Shirvan; Javad Akhondian; Parvaneh Layegh; Narges Hashemi; Ehsan Ghayoor Karimiani; Razie Rezaie; Paria Najarzadeh Torbati; mehran beiraghi toosi
Reviews in Clinical Medicine, Vol 11, Iss 3, Pp 29-32 (2024)
Academic Journal
Mohammad Reza Mirinezhad; Farzaneh Mirzaei; Arash Salmaninejad; Reza Jafarzadeh Esfehani; Mohammad Reza Seyedtaghia; Sheyda Farahmand; Mehran Beiraghi Toosi; Somayyeh Hashemian; M. E. Suzzane Lewis
Molecular Genetics & Genomic Medicine, Vol 13, Iss 3, Pp n/a-n/a (2025)
Academic Journal
Reza Nejad Shahrokh Abadi; Farid Shekarchian; Farrokh Seilanian Toosi; Ahmadreza Mashreghi; Sara Maddahpour; Samane Kamali; Shima Shekari; Mehran Beiraghi Toosi; Narges Hashemi
Clinical Case Reports, Vol 13, Iss 1, Pp n/a-n/a (2025)
Academic Journal
Aziz-Ahari, Solmaz; Aminian, Mahdi; Rahimian, Aliasghar; Nafissi, Shahriar; Heidari, Morteza; Rabbani, Ali; Zarnani, Amir-Hassan; Mohebbi, Ali; Badv, Reza Shervin; Saladjegheh, Nargess; Mortezagholi, Sahar; Masoumi, Safdar; Hadipour, Zahra; Boostani, Reza; Toosi, Mehran Beiraghi; Zanjani, Keyhan Sayadpour; Khajeh, Ali; Tonkaboni, Seyed Hassan; Sadeghi, Maryam; Fatehi, Farzad; et al
Publisher: Tehran University of Medical Sciences ISSN: 1735-1502
Academic Journal
Seilanian Toosi, Farrokh; Hashemi, Narges; Nejad Shahrokh Abadi, Reza; Mehdipour Arbastan, Ahmad; Akhoondian, Javad; Ashrafzadeh, Farah; Beiraghi Toosi, Mehran; Imannezhad, Shima; Maddahpour, Sara; Naseri, Maryam; Saeidinia, Amin; Kamali, Samaneh; Shekari, Shima
Iranian Journal of Child Neurology. 18(4)
Academic Journal
beiraghi toosi, mehran; Mousavi, Sousan; keykhosravi, ehsan; Rezaee, Hamid; Dehghanian, Paria; ebrahimzadeh, farnoosh; tavallayi, amin
Iranian Journal of Child Neurology. 18(4)
Academic Journal
Luciana Musante; Flavio Faletra; Kolja Meier; Hoda Tomoum; Paria Najarzadeh Torbati; Edward Blair; Sally North; Jutta Gärtner; Susann Diegmann; Mehran Beiraghi Toosi; Farah Ashrafzadeh; Ehsan Ghayoor Karimiani; David Murphy; Flora Maria Murru; Caterina Zanus; Andrea Magnolato; Martina La Bianca; Agnese Feresin; Giorgia Girotto; Paolo Gasparini; Paola Costa; Marco Carrozzi
Am J Med Genet A
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