학술논문
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'학술논문'
에서 검색결과 377건 | 목록
1~20
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
Torbati, Paria Najarzadeh ; Salehirozveh, Mostafa ; Toosi, Mehran Beiraghi ; Ahangari, Najmeh ; Doosti, Mohammad ; Ashrafzadeh, Farah ; Akhondian, Javad ; Hashemi, Narges ; Safi, Mojtaba ; Hanieh sadat mirzadeh ; Malek, Hadis ; Farsi, Farima ; Imannezhad, Shima ; Karimiani, Ehsan Ghayoor
In Pediatric Neurology April 2026 177:68-76
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
Nou-Fontanet, Laia ; Ousingsawat, Jiraporn ; Aziz, Majid ; Maroofian, Reza ; Karimiani, Ehsan Ghayoor ; Fernández-López, Anna ; Candela, Santiago ; Rumià, Jordi ; Dominguez, Ana Maria ; Schreiber, Rainer ; Kunzelmann, Karl ; Ortigoza-Escobar, Juan Dario
In Pediatric Neurology July 2025
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
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
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
Academic Journal
Maroofian, Reza ; Zamani, Mina ; Kaiyrzhanov, Rauan ; Liebmann, Lutz ; Karimiani, Ehsan Ghayoor ; Vona, Barbara ; Huebner, Antje K. ; Calame, Daniel G. ; Misra, Vinod K. ; Sadeghian, Saeid ; Azizimalamiri, Reza ; Mohammadi, Mohammad Hasan ; Zeighami, Jawaher ; Heydaran, Sogand ; Toosi, Mehran Beiraghi ; Akhondian, Javad ; Babaei, Meisam ; Hashemi, Narges ; Schnur, Rhonda E. ; Suri, Mohnish ; Setzke, Jonas ; Wagner, Matias ; Brunet, Theresa ; Grochowski, Christopher M. ; Emrick, Lisa ; Chung, Wendy K. ; Hellmich, Ute A. ; Schmidts, Miriam ; Lupski, James R. ; Galehdari, Hamid ; Severino, Mariasavina ; Houlden, Henry ; Hübner, Christian A.
In Genetics in Medicine March 2024 26(3)
Academic Journal
Acosta, Maria T.; Adam, Margaret; Adams, David R.; Alvarez, Raquel L.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Bacino, Carlos A.; Bademci, Guney; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bellen, Hugo J.; Bennett, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Cassini, Thomas; Chang, Ta Chen Peter; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Chinn, Ivan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Colley, Heather A.; Cope, Heidi; Corona, Rosario; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D’Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Dayal, Jyoti G.; Dell'Angelica, Esteban C.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Falk, Marni; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Gahl, William A.; Glass, Ian; Gochuico, Bernadette; Goddard, Page C.; Godfrey, Rena A.; Golden-Grant, Katie; Grajewski, Alana; Hadley, Don; Hahn, Sihoun; Halley, Meghan C.; Hamid, Rizwan; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Hutchison, Sarah; Introne, Wendy; Isasi, Rosario; Izumi, Kosuke; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Jean-Marie, Orpa; Jobanputra, Vaidehi; Karaviti, Lefkothea; Ketkar, Shamika; Kiley, Dana; Kilich, Gonench; Kobren, Shilpa N.; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Kozuira, Mary; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Lalani, Seema R.; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; LeBlanc, Kimberly; Lee, Brendan H.; Levitt, Roy; Lewis, Richard A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Maghiro, Audrey Stephannie; Mahoney, Rachel; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martínez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCray, Alexa T.; McGee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo; Mulvihill, John; Nakano-Okuno, Mariko; Nelson, Stanley F.; Newman, John H.; Nicholas, Sarah K.; Nickerson, Deborah; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Palmer, Christina G.S.; Papp, Jeanette C.; Parker, Neil H.; Phillips III, John A.; Posey, Jennifer E.; Potocki, Lorraine; Pusey Swerdzewski, Barbara N.; Quinlan, Aaron; Rao, Deepak A.; Raper, Anna; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenwasser, Natalie; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A.; Scott, C. Ron; Seto, Elaine; Shashi, Vandana; Shin, Jimann; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solnica-Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Kathleen; Sullivan, Jennifer A.; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Queenie K.-G.; Tan, Amelia L.M.; Tarakad, Arjun; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Ungar, Rachel A.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Wallace, Stephanie; Walley, Nicole M.; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Weisz Hubshman, Monika; Wener, Mark; Wenger, Tara; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Worley, Kim; Xiao, Changrui; Yamamoto, Shinya; Yang, John; Zhang, Zhe; Zuchner, Stephan; Paul, Maimuna S. ; Michener, Sydney L. ; Pan, Hongling ; Chan, Hiuling ; Pfliger, Jessica M. ; Lerma, Vanesa C. ; Tran, Alyssa ; Longley, Megan A. ; Weisz-Hubshman, Monika ; Bekheirnia, Mir Reza ; Bekheirnia, Nasim ; Massingham, Lauren ; Zech, Michael ; Wagner, Matias ; Engels, Hartmut ; Cremer, Kirsten ; Mangold, Elisabeth ; Peters, Sophia ; Trautmann, Jessica ; Perne, Claudia ; Mester, Jessica L. ; Guillen Sacoto, Maria J. ; Person, Richard ; McDonnell, Pamela P. ; Cohen, Stacey R. ; Lusk, Laina ; Cohen, Ana S.A. ; Le Pichon, Jean-Baptiste ; Pastinen, Tomi ; Zhou, Dihong ; Engleman, Kendra ; Racine, Caroline ; Faivre, Laurence ; Moutton, Sébastien ; Denommé-Pichon, Anne-Sophie ; Koh, Hyun Yong ; Poduri, Annapurna ; Bolton, Jeffrey ; Knopp, Cordula ; Julia Suh, Dong Sun ; Maier, Andrea ; Toosi, Mehran Beiraghi ; Karimiani, Ehsan Ghayoor ; Maroofian, Reza ; Schaefer, Gerald Bradley ; Ramakumaran, Vijayalakshmi ; Vasudevan, Pradeep ; Banos-Pinero, Benito ; Pagnamenta, Alistair T. ; Prasad, Chitra ; Osmond, Matthew ; Schuhmann, Sarah ; Vasileiou, Georgia ; Russ-Hall, Sophie ; Scheffer, Ingrid E. ; Carvill, Gemma L.
In The American Journal of Human Genetics 4 January 2024 111(1):96-118
Academic Journal
Zemorshidi, Fariba ; Nafissi, Shahriar ; Boostani, Reza ; Karimiani, Ehsan Ghayoor ; Ashtiani, Bahram Haghi ; Karimzadeh, Parvaneh ; Miryounesi, Mohammad ; Tonekaboni, Seyed Hassan ; Nilipour, Yalda
In Neuromuscular Disorders July 2023 33(7):589-595
Academic Journal
Whittle, Ella F. ; Chilian, Madison ; Karimiani, Ehsan Ghayoor ; Progri, Helga ; Buhas, Daniela ; Kose, Melis ; Ganetzky, Rebecca D. ; Toosi, Mehran Beiraghi ; Torbati, Paria Najarzadeh ; Badv, Reza Shervin ; Shelihan, Ivan ; Yang, Hui ; Elloumi, Houda Zghal ; Lee, Sukyeong ; Jamshidi, Yalda ; Pittman, Alan M. ; Houlden, Henry ; Ignatius, Erika ; Rahman, Shamima ; Maroofian, Reza ; Yoon, Wan Hee ; Carroll, Christopher J.
In Genetics in Medicine February 2023 25(2)
Academic Journal
Saida, Ken ; Maroofian, Reza ; Sengoku, Toru ; Mitani, Tadahiro ; Pagnamenta, Alistair T. ; Marafi, Dana ; Zaki, Maha S. ; O’Brien, Thomas J. ; Karimiani, Ehsan Ghayoor ; Kaiyrzhanov, Rauan ; Takizawa, Marina ; Ohori, Sachiko ; Leong, Huey Yin ; Akay, Gulsen ; Galehdari, Hamid ; Zamani, Mina ; Romy, Ratna ; Carroll, Christopher J. ; Toosi, Mehran Beiraghi ; Ashrafzadeh, Farah ; Imannezhad, Shima ; Malek, Hadis ; Ahangari, Najmeh ; Tomoum, Hoda ; Gowda, Vykuntaraju K. ; Srinivasan, Varunvenkat M. ; Murphy, David ; Dominik, Natalia ; Elbendary, Hasnaa M. ; Rafat, Karima ; Yilmaz, Sanem ; Kanmaz, Seda ; Serin, Mine ; Krishnakumar, Deepa ; Gardham, Alice ; Maw, Anna ; Rao, Tekki Sreenivasa ; Alsubhi, Sarah ; Srour, Myriam ; Buhas, Daniela ; Jewett, Tamison ; Goldberg, Rachel E. ; Shamseldin, Hanan ; Frengen, Eirik ; Misceo, Doriana ; Strømme, Petter ; Magliocco Ceroni, José Ricardo ; Kim, Chong Ae ; Yesil, Gozde ; Sengenc, Esma ; Guler, Serhat ; Hull, Mariam ; Parnes, Mered ; Aktas, Dilek ; Anlar, Banu ; Bayram, Yavuz ; Pehlivan, Davut ; Posey, Jennifer E. ; Alavi, Shahryar ; Madani Manshadi, Seyed Ali ; Alzaidan, Hamad ; Al-Owain, Mohammad ; Alabdi, Lama ; Abdulwahab, Ferdous ; Sekiguchi, Futoshi ; Hamanaka, Kohei ; Fujita, Atsushi ; Uchiyama, Yuri ; Mizuguchi, Takeshi ; Miyatake, Satoko ; Miyake, Noriko ; Elshafie, Reem M. ; Salayev, Kamran ; Guliyeva, Ulviyya ; Alkuraya, Fowzan S. ; Gleeson, Joseph G. ; Monaghan, Kristin G. ; Langley, Katherine G. ; Yang, Hui ; Motavaf, Mahsa ; Safari, Saeid ; Alipour, Mozhgan ; Ogata, Kazuhiro ; Brown, André E.X. ; Lupski, James R. ; Houlden, Henry ; Matsumoto, Naomichi
In Genetics in Medicine January 2023 25(1):90-102
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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
Iqbal, Maria ; Maroofian, Reza ; Çavdarlı, Büşranur ; Riccardi, Florence ; Field, Michael ; Banka, Siddharth ; Bubshait, Dalal K. ; Li, Yun ; Hertecant, Jozef ; Baig, Shahid Mahmood ; Dyment, David ; Efthymiou, Stephanie ; Abdullah, Uzma ; Makhdoom, Ehtisham Ul Haq ; Ali, Zafar ; Scherf de Almeida, Tobias ; Molinari, Florence ; Mignon-Ravix, Cécile ; Chabrol, Brigitte ; Antony, Jayne ; Ades, Lesley ; Pagnamenta, Alistair T. ; Jackson, Adam ; Douzgou, Sofia ; Ambrose, J.C. ; Arumugam, P. ; Bleda, M. ; Boardman-Pretty, F. ; Boustred, C.R. ; Brittain, H. ; Caulfield, M.J. ; Chan, G.C. ; Fowler, T. ; Giess, A. ; Hamblin, A. ; Henderson, S. ; Hubbard, T.J.P. ; Jackson, R. ; Jones, L.J. ; Kasperaviciute, D. ; Kayikci, M. ; Kousathanas, A. ; Lahnstein, L. ; Leigh, S.E.A. ; Leong, I.U. ; Lopez, F.J. ; Maleady-Crowe, F. ; Moutsianas, L. ; Mueller, M. ; Murugaesu, N. ; Need, A.C. ; O’Donovan, P. ; Odhams, C.A. ; Patch, C. ; Perez-Gil, D. ; Pereira, M.B. ; Pullinger, J. ; Rahim, T. ; Rendon, A. ; Rogers, T. ; Savage, K. ; Sawant, K. ; Scott, R.H. ; Siddiq, A. ; Sieghart, A. ; Smith, S.C. ; Sosinsky, A. ; Stuckey, A. ; Tanguy, M. ; Thomas, E.R.A. ; Thompson, S.R. ; Tucci, A. ; Walsh, E. ; Welland, M.J. ; Williams, E. ; Witkowska, K. ; Wood, S.M. ; Beetz, Christian ; Karageorgou, Vasiliki ; Vona, Barbara ; Rad, Aboulfazl ; Baig, Jamshaid Mahmood ; Sultan, Tipu ; Alvi, Javeria Raza ; Maqbool, Shazia ; Rahman, Fatima ; Toosi, Mehran Beiraghi ; Ashrafzadeh, Farah ; Imannezhad, Shima ; Karimiani, Ehsan Ghayoor ; Sarwar, Yasra ; Khan, Sheraz ; Jameel, Muhammad ; Noegel, Angelika A. ; Budde, Birgit ; Altmüller, Janine ; Motameny, Susanne ; Höhne, Wolfgang ; Houlden, Henry ; Nürnberg, Peter ; Wollnik, Bernd ; Villard, Laurent ; Alkuraya, Fowzan Sami ; Osmond, Matthew ; Hussain, Muhammad Sajid ; Yigit, Gökhan
In Genetics in Medicine November 2021 23(11):2138-2149
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Lin, Sheng-Jia ; Vona, Barbara ; Barbalho, Patricia G. ; Kaiyrzhanov, Rauan ; Maroofian, Reza ; Petree, Cassidy ; Severino, Mariasavina ; Stanley, Valentina ; Varshney, Pratishtha ; Bahena, Paulina ; Alzahrani, Fatema ; Alhashem, Amal ; Pagnamenta, Alistair T. ; Aubertin, Gudrun ; Estrada-Veras, Juvianee I. ; Hernández, Héctor Adrián Díaz ; Mazaheri, Neda ; Oza, Andrea ; Thies, Jenny ; Renaud, Deborah L. ; Dugad, Sanmati ; McEvoy, Jennifer ; Sultan, Tipu ; Pais, Lynn S. ; Tabarki, Brahim ; Villalobos-Ramirez, Daniel ; Rad, Aboulfazl ; Ambrose, J.C. ; Arumugam, P. ; Bleda, M. ; Boardman-Pretty, F. ; Boustred, C.R. ; Brittain, H. ; Caulfield, M.J. ; Chan, G.C. ; Fowler, T. ; Giess, A. ; Hamblin, A. ; Henderson, S. ; Hubbard, T.J.P. ; Jackson, R. ; Jones, L.J. ; Kasperaviciute, D. ; Kayikci, M. ; Kousathanas, A. ; Lahnstein, L. ; Leigh, S.E.A. ; Leong, I.U.S. ; Lopez, F.J. ; Maleady-Crowe, F. ; Moutsianas, L. ; Mueller, M. ; Murugaesu, N. ; Need, A.C. ; O‘Donovan, P. ; Odhams, C.A. ; Patch, C. ; Perez-Gil, D. ; Pereira, M.B. ; Pullinger, J. ; Rahim, T. ; Rendon, A. ; Rogers, T. ; Savage, K. ; Sawant, K. ; Scott, R.H. ; Siddiq, A. ; Sieghart, A. ; Smith, S.C. ; Sosinsky, A. ; Stuckey, A. ; Tanguy, M. ; Thomas, E.R.A. ; Thompson, S.R. ; Tucci, A. ; Walsh, E. ; Welland, M.J. ; Williams, E. ; Witkowska, K. ; Wood, S.M. ; Galehdari, Hamid ; Ashrafzadeh, Farah ; Sahebzamani, Afsaneh ; Saeidi, Kolsoum ; Torti, Erin ; Elloumi, Houda Z. ; Mora, Sara ; Palculict, Timothy B. ; Yang, Hui ; Wren, Jonathan D. ; Ben Fowler ; Joshi, Manali ; Behra, Martine ; Burgess, Shawn M. ; Nath, Swapan K. ; Hanna, Michael G. ; Kenna, Margaret ; Merritt, J. Lawrence, II ; Houlden, Henry ; Karimiani, Ehsan Ghayoor ; Zaki, Maha S. ; Haaf, Thomas ; Alkuraya, Fowzan S. ; Gleeson, Joseph G. ; Varshney, Gaurav K.
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Tremblay-Laganière, Camille ; Maroofian, Reza ; Nguyen, Thi Tuyet Mai ; Karimiani, Ehsan Ghayoor ; Kirmani, Salman ; Akbar, Fizza ; Ibrahim, Shahnaz ; Afroze, Bushra ; Doosti, Mohammad ; Ashrafzadeh, Farah ; Babaei, Meisam ; Efthymiou, Stephanie ; Christoforou, Marilena ; Sultan, Tipu ; Ladda, Roger L. ; McLaughlin, Heather M. ; Truty, Rebecca ; Mahida, Sonal ; Cohen, Julie S. ; Baranano, Kristin ; Ismail, Fatima Y. ; Patel, Millan S. ; Lehman, Anna ; Edmondson, Andrew C. ; Nagy, Amanda ; Walker, Melissa A. ; Mercimek-Andrews, Saadet ; Maki, Yuta ; Sachdev, Rani ; Macintosh, Rebecca ; Palmer, Elizabeth E. ; Mancini, Grazia M.S. ; Barakat, Tahsin Stefan ; Steinfeld, Robert ; Rüsch, Christina T. ; Stettner, Georg M. ; Wagner, Matias ; Wortmann, Saskia B. ; Kini, Usha ; Brady, Angela F. ; Stals, Karen L. ; Ismayilova, Naila ; Ellard, Sian ; Bernardo, Danilo ; Nugent, Kimberly ; McLean, Scott D. ; Antonarakis, Stylianos E. ; Houlden, Henry ; Kinoshita, Taroh ; Campeau, Philippe M. ; Murakami, Yoshiko
In Genetics in Medicine October 2021 23(10):1873-1881
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Ghosh, Shereen G. ; Lee, Sangmoon ; Fabunan, Rudy ; Chai, Guoliang ; Zaki, Maha S. ; Abdel-Salam, Ghada ; Sultan, Tipu ; Ben-Omran, Tawfeg ; Alvi, Javeria Raza ; McEvoy-Venneri, Jennifer ; Stanley, Valentina ; Patel, Aakash ; Ross, Danica ; Ding, Jeffrey ; Jain, Mohit ; Pan, Daqiang ; Lübbert, Philipp ; Kammerer, Bernd ; Wiedemann, Nils ; Verhoeven-Duif, Nanda M. ; Jans, Judith J. ; Murphy, David ; Toosi, Mehran Beiraghi ; Ashrafzadeh, Farah ; Imannezhad, Shima ; Karimiani, Ehsan Ghayoor ; Ibrahim, Khalid ; Waters, Elizabeth R. ; Maroofian, Reza ; Gleeson, Joseph G.
In Genetics in Medicine March 2021 23(3):524-533
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del Caño-Ochoa, Francisco ; Ng, Bobby G. ; Abedalthagafi, Malak ; Almannai, Mohammed ; Cohn, Ronald D. ; Costain, Gregory ; Elpeleg, Orly ; Houlden, Henry ; Karimiani, Ehsan Ghayoor ; Liu, Pengfei ; Manzini, M. Chiara ; Maroofian, Reza ; Muriello, Michael ; Al-Otaibi, Ali ; Patel, Hema ; Shimon, Edvardson ; Sutton, V. Reid ; Toosi, Mehran Beiraghi ; Wolfe, Lynne A. ; Rosenfeld, Jill A. ; Freeze, Hudson H. ; Ramón-Maiques, Santiago
In Genetics in Medicine October 2020 22(10):1598-1605
Academic Journal
Keller, Natalie ; Mendoza-Ferreira, Natalia ; Maroofian, Reza ; Chelban, Viorica ; Khalil, Youssef ; Mills, Philippa B. ; Boostani, Reza ; Torbati, Paria Najarzadeh ; Karimiani, Ehsan Ghayoor ; Thiele, Holger ; Houlden, Henry ; Wirth, Brunhilde ; Karakaya, Mert
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