학술논문
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'학술논문'
에서 검색결과 465건 | 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
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
Nolasco, Gregorio A.; Roldán, Mònica; Jamshidi, Yalda; Georvasilis, Ioannis; Rodríguez, Rocío Jadraque; Boostani, Reza; Shoeibi, Ali; Armengol, Lluís; Codina, Anna; Karimiani, Ehsan Ghayoor; Hernando‐Davalillo, Cristina; Martorell, Loreto; Almaraz, María Luisa Ramírez; Muchart, Jordi; Ortez, Carlos; Nascimento, Andrés; Urreizti, Roser; Benito, Daniel Natera‐De; Serrano, Mercedes
Annals of Clinical and Translational Neurology. January 10, 2026, Vol. 13 Issue 1, p108, 14 p.
Academic Journal
Chunyang Ni; Yudong Wei; Barbara Vona; Dayea Park; Yulei Wei; Daniel A. Schmitz; Yi Ding; Masahiro Sakurai; Emily Ballard; Leijie Li; Yan Liu; Ashwani Kumar; Chao Xing; Shenlu Qin; Sangin Kim; Martina Foglizzo; Jianchao Zhao; Hyung-Goo Kim; Cumhur Ekmekci; Ehsan Ghayoor Karimiani; Shima Imannezhad; Fatemeh Eghbal; Reza Shervin Badv; Eva Maria Christina Schwaibold; Mohammadreza Dehghani; Mohammad Yahya Vahidi Mehrjardi; Zahra Metanat; Hosein Eslamiyeh; Ebtissal Khouj; Saleh Mohammed Nasser Alhajj; Aziza Chedrawi; Khushnooda Ramzan; Jamil A. Hashmi; Majed M. Alluqmani; Sulman Basit; Danai Veltra; Nikolaos M. Marinakis; Georgios Niotakis; Pelagia Vorgia; Christalena Sofocleous; Hane Lee; Won Chan Jeong; Muhammad Umair; Muhammad Bilal; César Augusto Pinheiro Ferreira Alves; Matthew Sieber; Michael Kruer; Henry Houlden; Fowzan S. Alkuraya; Elton Zeqiraj; Roger A. Greenberg; Can Cenik; Leqian Yu; Reza Maroofian; Jun Wu; Michael Buszczak
Nat Cell Biol
Academic Journal
Najmeh Ahangari; Bita Barazandeh Shirvan; Farah Ashrafzadeh; Ehsan Ghayoor Karimiani; Narges Hashemi; Shima Imannezhad; Hashem Lashgari Kalat; Farnoosh Ebrahimzadeh; Javad Akhondian; Mehran Beiraghi Toosi
Annals of Pediatric Endocrinology & Metabolism, Vol 31, Iss 1, Pp 3-10 (2026)
Academic Journal
Torbati, Paria Najarzadeh, MSc; Salehirozveh, Mostafa, PhD; Toosi, Mehran Beiraghi, MD; Ahangari, Najmeh, PhD; Doosti, Mohammad, PhD; Ashrafzadeh, Farah, MD; Akhondian, Javad, MD; Hashemi, Narges, MD; Safi, Mojtaba, MSc; Hanieh sadat mirzadeh, MD; Malek, Hadis, MSc; Farsi, Farima, PhD; Imannezhad, Shima, MD; Karimiani, Ehsan Ghayoor, MD
Pediatric Neurology. 177:68-76
Academic Journal
Nou-Fontanet, Laia, MD; Ousingsawat, Jiraporn, PhD; Aziz, Majid, MD; Maroofian, Reza, PhD; Karimiani, Ehsan Ghayoor, MD, PhD; Fernández-López, Anna, MD; Candela-Cantó, Santiago, MD, PhD; Rumià, Jordi, MD, PhD; Dominguez, Ana Maria, MD; Schreiber, Rainer, PhD; Kunzelmann, Karl, MD; Ortigoza-Escobar, Juan Dario, MD, PhD
Pediatric Neurology. 172:46-52
Academic Journal
Mohammad Salehi; Hamid Ahanchian; Ehsan Ghayoor Karimiani; Mohammad Hassan Aelami; Nasrin Moazzen; Zeinab Neshati; Alireza Pasdar
Scientific Reports, Vol 16, Iss 1 (2026)
Academic Journal
Ahangari, Najmeh; Shirvan, Bita Barazandeh; Ashrafzadeh, Farah; Karimiani, Ehsan Ghayoor; Hashemi, Narges; Imannezhad, Shima; Kalat, Hashem Lashgari; Ebrahimzadeh, Farnoosh; Akhondian, Javad; Toosi, Mehran Beiraghi
Annals of Pediatric Endocrinology & Metabolism. 31(1):3-10
Academic Journal
Egyptian Journal of Medical Human Genetics, Vol 26, Iss 1, Pp 1-11 (2025)
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy
Academic Journal
Chatron, Nicolas; Becker, Felicitas; Morsy, Heba; Schmidts, Miriam; Hardies, Katia; Tuysuz, Beyhan; Roselli, Sandra; Najafi, Maryam; Alkaya, Dilek Uludag; Ashrafzadeh, Farah; Nabil, Amira; Omar, Tarek; Maroofian, Reza; Karimiani, Ehsan Ghayoor; Hussien, Haytham; Kok, Fernando; Ramos, Luiza; Gunes, Nilay; Bilguvar, Kaya; Labalme, Audrey; Alix, Eudeline; Sanlaville, Damien; de Bellescize, Julitta; Poulat, Anne-Lise; Moslemi, Ali-Reza; Lerche, Holger; May, Patrick; Lesca, Gaetan; Weckhuysen, Sarah; Tajsharghi, Homa
Brain. 143(5):1447-1461
Academic Journal
Planas-Serra, Laura ; Rodríguez-Ruiz, Mar ; Anderson, Eric Nathaniel ; Rodríguez-Palmero, Agustí ; Vélez-Santamaria, Valentina ; Schlüter, Agatha ; Verdura, Edgard ; Gereñu, Gorka ; Jiménez-Zúñiga, Andrés ; Iñañez, Alejandro ; Casas, Josefina ; Bech, Joan Josep ; De La Torre, Carolina ; Martínez, Juan José ; Ruiz, Montserrat ; Fourcade, Stéphane ; Iascone, Maria ; Tenconi, Romano ; Meier, Kolja ; Diegmann, Susann ; Lee, Reagan H.C. ; Beland, Bakht ; Mir, Asif ; Darvish, Hossein ; Chung, Wendy ; Karimiani, Ehsan Ghayoor ; Leal, Suzanne M. ; Schrauwen, Isabelle ; Öhman, Susanna ; Järvelä, Irma ; Granvik, Johanna ; Reinson, Karit ; Kurvinen, Elvira ; Õunap, Katrin ; Schwan, Annemarie ; Platzer, Konrad ; Kalayci, Tuğba ; Sharifi, Shahrashoub ; Korenke, G. Christoph ; Houlden, Henry ; Maroofian, Reza ; López de Munaín, Adolfo ; Casasnovas, Carlos ; Pandey, Udai Bhan ; Pujol, Aurora
In The American Journal of Human Genetics 6 November 2025 112(11):2643-2664
Academic Journal
Zhang, Kejia ; Manning, Aidan C. ; Lentini, Jenna M. ; Howard, Jonathan ; Dalwigk, Felix ; Maroofian, Reza ; Efthymiou, Stephanie ; Chan, Patricia ; Eliseev, Sergei I. ; Yang, Zi ; Chang, Hayley ; Karimiani, Ehsan Ghayoor ; Bakhshoodeh, Behnoosh ; Houlden, Henry ; Kaiser, Stefanie M. ; Lowe, Todd M. ; Fu, Dragony
In Cell Reports 28 January 2025 44(1)
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
Tina Zeraati; Mohammad Reza Abbaszadegan; Anoush Azarfar; Ehsan Ghayoor Karimiani; Malihe Lotfi; Abbas Ali Zeraati
Egyptian Journal of Medical Human Genetics, Vol 25, Iss 1, Pp 1-9 (2024)
Academic Journal
Quinlan, Aaron; Vanderver, Adeline; Rebelo, Adriana; Allworth, Aimee; Beggs, Alan H.; Huang, Alden; Paul, Alex; Al-Beshri, Ali; Ward, Alistair; McConkie-Rosell, Allyn; Tran, Alyssa A.; Gropman, Andrea; Vargas, Andres; Crouse, Andrew B.; Stergachis, Andrew; Beck, Anita; Hurst, Anna; Raper, Anna; Hing, Anne; Tarakad, Arjun; Andrews, Ashley; McMinn, Ashley; Balasubramanyam, Ashok; Maghiro, AudreyStephannie C.; Pusey Swerdzewski, Barbara N.; Afzali, Ben; Solomon, Ben; Martin, Beth A.; Mitchell, Breanna; Lanpher, Brendan C.; Lee, Brendan H.; Fogel, Brent L.; Graham, Brett H.; Corner, Brian; Korf, Bruce; MacRae, Calum A.; Toro, Camilo; Skraban, Cara; Bacino, Carlos A.; Smith, Carson A.; Esteves, Cecilia; Xiao, Changrui; Reuter, Chloe M.; Lam, Christina; Eng, Christine M.; Henchcliffe, Claire; Wahl, Colleen E.; Welt, Corrine K.; Tifft, Cynthia J.; Kiley, Dana; Doherty, Daniel; Rader, Daniel J.; Wegner, Daniel; Miller, Danny; Scott, Daryl A.; Viskochil, Dave; Sweetser, David A.; Adams, David R.; Earl, Dawn; Barbouth, Deborah; Rao, Deepak A.; Oglesbee, Devin; Bonner, Devon; Novacic, Donna; Baldridge, Dustin; Behrens, Edward; Silverman, Edwin K.; Seto, Elaine; Kravets, Elijah; Burke, Elizabeth A.; Blue, Elizabeth; Fieg, Elizabeth L.; Rosenthal, Elizabeth; Macnamara, Ellen F.; Balton, Elsa; Glanton, Emily; Shelkowitz, Emily; Allenspach, Eric; Klee, Eric; Vilain, Eric; Baldwin, Erin; Conboy, Erin; Baldwin, Erin E.; McRoy, Erin; Dell'Angelica, Esteban C.; Ashley, Euan A.; Cole, F. Sessions; Pinto e Vairo, Filippo; High, Frances; Vetrini, Francesco; Rossignol, Francis; Hisama, Fuki M.; Marth, Gabor; Jarvik, Gail P.; Clark, Gary D.; Carvalho, George; Berry, Gerard T.; Mirzaa, Ghayda; Bejerano, Gill; Sirugo, Giorgio; Kilich, Gonench; Bademci, Guney; Wood, Heidi; Taylor, Herman; Tabor, Holly K.; Dai, Hongzheng; Chao, Hsiao-Tuan; Bellen, Hugo J.; Glass, Ian; Lanza, Ian R.; Holm, Ingrid A.; Kohane, Isaac S.; Chinn, Ivan; Pallais, J. Carl; Sampson, Jacinda B.; Orengo, James P.; Hom, Jason; Kohler, Jennefer N.; Posey, Jennifer E.; Wambach, Jennifer; Douglas, Jessica; Fu, Jiayu; Rosenfeld, Jill A.; Shin, Jimann; Bennett, Jimmy; Stoler, Joan M.; Gonzalez, Joanna M.; Phillips, John A., III; Carey, John; Mulvihill, John J.; Davis, Joie; Bernstein, Jonathan A.; Whitlock, Jordan; Abdenur, Jose; Loscalzo, Joseph; Cogan, Joy D.; Martínez-Agosto, Julian A.; Alvey, Justin; Darr, Kahlen; Callaway, Kaitlin; Leppig, Kathleen A.; Sullivan, Kathleen; Sisco, Kathy; Singh, Kathyrn; Dipple, Katrina; Treat, Kayla M.; Hassey, Kelly; Schoch, Kelly; Smith, Kevin S.; Liaqat, Khurram; Worley, Kim; Ezell, Kimberly; LeBlanc, Kimberly; Latchman, Kumarie; Rodan, Lance H.; Pace, Laura; Cobban, Laurel A.; Briere, Lauren C.; Petcharet, Leoyklang; Peart, LéShon; Mantcheva, Lili; Solnica-Krezel, Lilianna; Burrage, Lindsay C.; Mulvihill, Lindsay; Schimmenti, Lisa; Emrick, Lisa T.; Botto, Lorenzo; Potocki, Lorraine; Rives, Lynette; Wolfe, Lynne A.; Butte, Manish J.; Delgado, Margaret; Acosta, Maria T.; Morimoto, Marie; Nakano-Okuno, Mariko; Wener, Mark; Sabaii, Marla; Horike-Pyne, Martha; Martin, Martin G.; Rodriguez, Martin; Velinder, Matt; Coggins, Matthew; Might, Matthew; Wheeler, Matthew T.; Ruzhnikov, Maura; Malicdan, MayChristine V.; Halley, Meghan C.; Walker, Melissa; Bamshad, Michael; Wangler, Michael F.; Almalvez, Miguel; Mikati, Mohamad; Hubshman, Monika Weisz; Westerfield, Monte; Tekin, Mustafa; Dorrani, Naghmeh; Parker, Neil H.; Hanchard, Neil; Borja, Nicholas; Longo, Nicola; Walley, Nicole M.; Movsesyan, Nina; Dargie, Nitsuh K.; Kanca, Oguz; Jean-Marie, Orpa; Goddard, Page C.; Moretti, Paolo; Ward, Patricia A.; Dickson, Patricia; Fisher, Paul G.; Liu, Pengfei; Byers, Peter; Bayrak-Toydemir, Pinar; D'Souza, Precilla; Tan, Queenie; Ungar, Rachel A.; Mahoney, Rachel; Rajagopalan, Ramakrishnan; Alvarez, Raquel L.; Spillmann, Rebecca C.; Ganetzky, Rebecca; Overbury, Rebecca; Barrick, Rebekah; Lewis, Richard A.; Maas, Richard L.; Hamid, Rizwan; Mao, Rong; Marom, Ronit; Corona, Rosario I.; Butterfield, Russell; Sheppeard, Sam; Attaripour, Sanaz; Lalani, Seema R.; Neumann, Serena; Ketkar, Shamika; Sunyaev, Shamil R.; Kobren, Shilpa N.; Yamamoto, Shinya; Sutton, Shirley; Marwaha, Shruti; Chanprasert, Sirisak; Nelson, Stanley F.; Zuchner, Stephan; Bivona, Stephanie; Ware, Stephanie M.; Pak, Stephen; Boyden, Steven; Jayadev, Suman; Dasari, Surendra; Korrick, Susan; Sandmeyer, Suzanne; Mozaffar, Tahseen; Skelton, Tammi; Wenger, Tara; Coakley, Terra R.; Cassini, Thomas; Nicholas, Thomas J.; Schedl, Timothy; Vogel, Tiphanie P.; Jobanputra, Vaidehi; Maduro, Valerie V.; Shashi, Vandana; Sybert, Virginia; Cuddapah, Vishnu; Introne, Wendy; Raskind, Wendy; Thorson, Willa; Gahl, William A.; Byrd, William E.; Craigen, William J.; Huang, Yan; Karasozen, Yigit; Dore, Rhys ; Chang, Chu-Ting ; Declève, Amber ; Brunori, Gloria ; Ludlam, W. Grant ; Movahedinia, Mojtaba ; Damseh, Nadirah S. ; Anwar, Ijaz ; Vahidi Mehrjardi, Mohammad Yahya ; Ny, Annelii ; Khorrami, Mehdi ; Kheirollahi, Majid ; Frederiksen, Helen ; Eghbal, Fatemeh ; Mirjalili, Mohammad Reza ; Dehghani, Mohammadreza ; Karimiani, Ehsan Ghayoor ; Oreshkov, Sergey ; Alves, Cesar ; Striano, Pasquale ; Suri, Mohnish ; Martinez-Agosto, Julian ; Ansar, Muhammad ; Zahid, Muhammad ; Akram, Samra ; Antonarakis, Stylianos E. ; Houlden, Henry ; Copmans, Daniëlle ; Martemyanov, Kirill A. ; Maroofian, Reza
In Genetics in Medicine June 2025
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
Calame, Daniel G. ; Wong, Jovi Huixin ; Panda, Puravi ; Nguyen, Dat Tuan ; Leong, Nancy C.P. ; Sangermano, Riccardo ; Patankar, Sohil G. ; Abdel-Hamid, Mohamed S. ; AlAbdi, Lama ; Safwat, Sylvia ; Flannery, Kyle P. ; Dardas, Zain ; Fatih, Jawid M. ; Murali, Chaya ; Kannan, Varun ; Lotze, Timothy E. ; Herman, Isabella ; Ammouri, Farah ; Rezich, Brianna ; Efthymiou, Stephanie ; Alavi, Shahryar ; Murphy, David ; Firoozfar, Zahra ; Nasab, Mahya Ebrahimi ; Bahreini, Amir ; Ghasemi, Majid ; Haridy, Nourelhoda A. ; Goldouzi, Hamid Reza ; Eghbal, Fatemeh ; Karimiani, Ehsan Ghayoor ; Begtrup, Amber ; Elloumi, Houda ; Srinivasan, Varunvenkat M. ; Gowda, Vykuntaraju K. ; Du, Haowei ; Jhangiani, Shalini N. ; Coban-Akdemir, Zeynep ; Marafi, Dana ; Rodan, Lance ; Isikay, Sedat ; Rosenfeld, Jill A. ; Ramanathan, Subhadra ; Staton, Michael ; Oberg, Kerby C. ; Clark, Robin D. ; Wenman, Catharina ; Loughlin, Sam ; Saad, Ramy ; Ashraf, Tazeen ; Male, Alison ; Tadros, Shereen ; Boostani, Reza ; Abdel-Salam, Ghada M.H. ; Zaki, Maha ; Mardi, Ali ; Hashemi-Gorji, Farzad ; Abdalla, Ebtesam ; Manzini, M. Chiara ; Pehlivan, Davut ; Posey, Jennifer E. ; Gibbs, Richard A. ; Houlden, Henry ; Alkuraya, Fowzan S. ; Bujakowska, Kinga ; Maroofian, Reza ; Lupski, James R. ; Nguyen, Long N.
In Genetics in Medicine January 2025 27(1)
Academic Journal
Mohammad Salehi; Zeinab Neshati; Hamid Ahanchian; Rana Tafrishi; Alireza Pasdar; Mojtaba Safi; Ehsan Ghayoor Karimiani
Health Science Reports, Vol 8, Iss 3, Pp n/a-n/a (2025)
Academic Journal
Iruzubieta, Pablo ; Alves, César Augusto Pinheiro Ferreira ; Al Shamsi, Aisha M. ; ElGhazali, Gehad ; Zaki, Maha S. ; Pinelli, Lorenzo ; Lopergolo, Diego ; Cho, Bernard P.H. ; Jolly, Amy A. ; Al Futaisi, Amna ; Al-Amrani, Fatema ; Galli, Jessica ; Fazzi, Elisa ; Vulin, Katarina ; Barajas-Olmos, Francisco ; Hengel, Holger ; Aljamal, Bayan Mohammed ; Nasr, Vahideh ; Assarzadegan, Farhad ; Ragno, Michele ; Trojano, Luigi ; Ojeda, Naomi Meave ; Çakar, Arman ; Bianchi, Silvia ; Pescini, Francesca ; Poggesi, Anna ; Al Tenalji, Amal ; Aziz, Majid ; Mohammad, Rahema ; Chedrawi, Aziza ; De Stefano, Nicola ; Zifarelli, Giovanni ; Schöls, Ludger ; Haack, Tobias B. ; Rebelo, Adriana ; Zuchner, Stephan ; Koc, Filiz ; Griffiths, Lyn R. ; Orozco, Lorena ; Helmes, Karla García ; Babaei, Meisam ; Bauer, Peter ; Chan Jeong, Won ; Karimiani, Ehsan Ghayoor ; Schmidts, Miriam ; Gleeson, Joseph G. ; Chung, Wendy K. ; Alkuraya, Fowzan Sami ; Shalbafan, Bita ; Markus, Hugh S. ; Houlden, Henry ; Maroofian, Reza
In eBioMedicine September 2024 107
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