학술논문
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'학술논문'
에서 검색결과 119건 | 목록
1~20
Academic Journal
Weerts, Marjolein J.A. ; Lanko, Kristina ; Guzmán-Vega, Francisco J. ; Jackson, Adam ; Ramakrishnan, Reshmi ; Cardona-Londoño, Kelly J. ; Peña-Guerra, Karla A. ; van Bever, Yolande ; van Paassen, Barbara W. ; Kievit, Anneke ; van Slegtenhorst, Marjon ; Allen, Nicholas M. ; Kehoe, Caroline M. ; Robinson, Hannah K. ; Pang, Lewis ; Banu, Selina H. ; Zaman, Mashaya ; Efthymiou, Stephanie ; Houlden, Henry ; Järvelä, Irma ; Lauronen, Leena ; Määttä, Tuomo ; Schrauwen, Isabelle ; Leal, Suzanne M. ; Ruivenkamp, Claudia A.L. ; Barge-Schaapveld, Daniela Q.C.M. ; Peeters-Scholte, Cacha M.P.C.D. ; Galehdari, Hamid ; Mazaheri, Neda ; Sisodiya, Sanjay M. ; Harrison, Victoria ; Sun, Angela ; Thies, Jenny ; Pedroza, Luis Alberto ; Lara-Taranchenko, Yana ; Chinn, Ivan K. ; Lupski, James R. ; Garza-Flores, Alexandra ; McGlothlin, Jeffery ; Yang, Lin ; Huang, Shaoping ; Wang, Xiaodong ; Jewett, Tamison ; Rosso, Gretchen ; Lin, Xi ; Mohammed, Shehla ; Merritt, J. Lawrence, II ; Mirzaa, Ghayda M. ; Timms, Andrew E. ; Scheck, Joshua ; Elting, Mariet W. ; Polstra, Abeltje M. ; Schenck, Lauren ; Ruzhnikov, Maura R.Z. ; Vetro, Annalisa ; Montomoli, Martino ; Guerrini, Renzo ; Koboldt, Daniel C. ; Mosher, Theresa Mihalic ; Pastore, Matthew T. ; McBride, Kim L. ; Peng, Jing ; Pan, Zou ; Willemsen, Marjolein ; Koning, Susanne ; Turnpenny, Peter D. ; de Vries, Bert B.A. ; Gilissen, Christian ; Pfundt, Rolph ; Lees, Melissa ; Braddock, Stephen R. ; Klemp, Kara C. ; Vansenne, Fleur ; van Gijn, Marielle E. ; Quindipan, Catherine ; Deardorff, Matthew A. ; Hamm, J. Austin ; Putnam, Abbey M. ; Baud, Rebecca ; Walsh, Laurence ; Lynch, Sally A. ; Baptista, Julia ; Person, Richard E. ; Monaghan, Kristin G. ; Crunk, Amy ; Keller-Ramey, Jennifer ; Reich, Adi ; Elloumi, Houda Zghal ; Alders, Marielle ; Kerkhof, Jennifer ; McConkey, Haley ; Haghshenas, Sadegheh ; Maroofian, Reza ; Sadikovic, Bekim ; Banka, Siddharth ; Arold, Stefan T. ; Barakat, Tahsin Stefan
In Genetics in Medicine November 2021 23(11):2122-2137
Academic Journal
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.
In Genetics in Medicine October 2021 23(10):1933-1943
Academic Journal
Hengel, Holger ; Hannan, Shabab B. ; Dyack, Sarah ; MacKay, Sara B. ; Schatz, Ulrich ; Fleger, Martin ; Kurringer, Andreas ; Balousha, Ghassan ; Ghanim, Zaid ; Alkuraya, Fowzan S. ; Alzaidan, Hamad ; Alsaif, Hessa S. ; Mitani, Tadahiro ; Bozdogan, Sevcan ; Pehlivan, Davut ; Lupski, James R. ; Gleeson, Joseph J. ; Dehghani, Mohammadreza ; Mehrjardi, Mohammad Y.V. ; Sherr, Elliott H. ; Parks, Kendall C. ; Argilli, Emanuela ; Begtrup, Amber ; Galehdari, Hamid ; Balousha, Osama ; Shariati, Gholamreza ; Mazaheri, Neda ; Malamiri, Reza A. ; Pagnamenta, Alistair T. ; Kingston, Helen ; Banka, Siddharth ; Jackson, Adam ; Osmond, Mathew ; Rieß, Angelika ; Haack, Tobias B. ; Nägele, Thomas ; Schuster, Stefanie ; Hauser, Stefan ; Admard, Jakob ; Casadei, Nicolas ; Velic, Ana ; Macek, Boris ; Ossowski, Stephan ; Houlden, Henry ; Maroofian, Reza ; Schöls, Ludger
In The American Journal of Human Genetics 3 June 2021 108(6):1069-1082
Academic Journal
Osborn, Daniel Peter Sayer ; Emrahi, Leila ; Clayton, Joshua ; Tabrizi, Mehrnoush Toufan ; Wan, Alex Yui Bong ; Maroofian, Reza ; Yazdchi, Mohammad ; Garcia, Michael Leon Enrique ; Galehdari, Hamid ; Hesse, Camila ; Shariati, Gholamreza ; Mazaheri, Neda ; Sedaghat, Alireza ; Goullée, Hayley ; Laing, Nigel ; Jamshidi, Yalda ; Tajsharghi, Homa
In Genetics in Medicine April 2021 23(4):787-792
Academic Journal
Vera, Gabriella ; Sorlin, Arthur ; Delplancq, Geoffroy ; Lecoquierre, François ; Brasseur-Daudruy, Marie ; Petit, Florence ; Smol, Thomas ; Ziegler, Alban ; Bonneau, Dominique ; Colin, Estelle ; Mercier, Sandra ; Cogné, Benjamin ; Bézieau, Stéphane ; Edery, Patrick ; Lesca, Gaetan ; Chatron, Nicolas ; Sabatier, Isabelle ; Duban-Bedu, Bénédicte ; Colson, Cindy ; Piton, Amélie ; Durand, Benjamin ; Capri, Yline ; Perrin, Laurence ; Wiesener, Antje ; Zweier, Christiane ; Maroofian, Reza ; Carroll, Christopher J. ; Galehdari, Hamid ; Mazaheri, Neda ; Callewaert, Bert ; Giulianno, Fabienne ; Zaafrane-Khachnaoui, Khaoula ; Buchert-Lo, Rebecca ; Haack, Tobias ; Magg, Janine ; Rieß, Angelika ; Blandfort, Maria ; Waldmüller, Stephan ; Horber, Veronka ; Leonardi, Emanuela ; Polli, Roberta ; Turolla, Licia ; Murgia, Alessandra ; Frebourg, Thierry ; Lebre, Anne Sophie ; Nicolas, Gaël ; Saugier-Veber, Pascale ; Guerrot, Anne-Marie
In European Journal of Medical Genetics October 2020 63(10)
Academic Journal
Negahdari, Samira; Zamani, Mina; Seifi, Tahereh; Sedighzadeh, Sahar; Mazaheri, Neda; Zeighami, Jawaher; Sedaghat, Alireza; Saberi, Alihossein; Hamid, Mohammad; keikhaei, Bijan; Radpour, Ramin; Shariati, Gholamreza; Galehdari, Hamid
Academic Journal
Dias, Caroline M. ; Punetha, Jaya ; Zheng, Céline ; Mazaheri, Neda ; Rad, Abolfazl ; Efthymiou, Stephanie ; Petersen, Andrea ; Dehghani, Mohammadreza ; Pehlivan, Davut ; Partlow, Jennifer N. ; Posey, Jennifer E. ; Salpietro, Vincenzo ; Gezdirici, Alper ; Malamiri, Reza Azizi ; Al Menabawy, Nihal M. ; Selim, Laila A. ; Vahidi Mehrjardi, Mohammad Yahya ; Banu, Selina ; Polla, Daniel L. ; Yang, Edward ; Rezazadeh Varaghchi, Jamileh ; Mitani, Tadahiro ; van Beusekom, Ellen ; Najafi, Maryam ; Sedaghat, Alireza ; Keller-Ramey, Jennifer ; Durham, Leslie ; Coban-Akdemir, Zeynep ; Karaca, Ender ; Orlova, Valeria ; Schaeken, Lieke L.M. ; Sherafat, Amir ; Jhangiani, Shalini N. ; Stanley, Valentina ; Shariati, Gholamreza ; Galehdari, Hamid ; Gleeson, Joseph G. ; Walsh, Christopher A. ; Lupski, James R. ; Seiradake, Elena ; Houlden, Henry ; van Bokhoven, Hans ; Maroofian, Reza
In The American Journal of Human Genetics 7 November 2019 105(5):1048-1056
Academic Journal
Osborn, Daniel P.S. ; Pond, Heather L. ; Mazaheri, Neda ; Dejardin, Jeremy ; Munn, Christopher J. ; Mushref, Khaloob ; Cauley, Edmund S. ; Moroni, Isabella ; Pasanisi, Maria Barbara ; Sellars, Elizabeth A. ; Hill, R. Sean ; Partlow, Jennifer N. ; Willaert, Rebecca K. ; Bharj, Jaipreet ; Malamiri, Reza Azizi ; Galehdari, Hamid ; Shariati, Gholamreza ; Maroofian, Reza ; Mora, Marina ; Swan, Laura E. ; Voit, Thomas ; Conti, Francesco J. ; Jamshidi, Yalda ; Manzini, M. Chiara
In The American Journal of Human Genetics 2 March 2017 100(3):537-545
Academic Journal
Helal, Mayada; Mazaheri, Neda; Shalbafan, Bita; Malamiri, Reza Azizi; Dilaver, Nafi; Buchert, Rebecca; Mohammadiasl, Javad; Golchin, Neda; Sedaghat, Alireza; Mehrjardi, Mohammad Yahya Vahidi; Haack, Tobias B.; Riess, Olaf; Chung, Wendy K.; Galehdari, Hamid; Shariati, Gholamreza; Maroofian, Reza
Academic Journal
Vona, Barbara; Mazaheri, Neda; Lin, Sheng-Jia; Dunbar, Lucy A.; Maroofian, Reza; Azaiez, Hela; Booth, Kevin T.
Human Genetics. June, 2021, Vol. 140 Issue 6, p915, 17 p.
TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia.
Academic Journal
Tábara, Luis Carlos; Al-Salmi, Fatema; Maroofian, Reza; Al-Futaisi, Amna Mohammed; Al-Murshedi, Fathiya; Kennedy, Joanna; Day, Jacob O; Courtin, Thomas; Al-Khayat, Aisha; Galedari, Hamid; Mazaheri, Neda; Protasoni, Margherita; Johnson, Mark; Leslie, Joseph S; Salter, Claire G; Rawlins, Lettie E; Fasham, James; Al-Maawali, Almundher; Voutsina, Nikol; Charles, Perrine
Academic Journal
De Nittis, Pasquelena; Efthymiou, Stephanie; Sarre, Alexandre; Guex, Nicolas; Chrast, Jacqueline; Putoux, Audrey; Sultan, Tipu; Alvi, Javeria Raza; ur Rahman, Zia; Zafar, Faisal; Rana, Nuzhat; Rahman, Fatima; Anwar, Najwa; Maqbool, Shazia; Zaki, Maha S.; Gleeson, Joseph G.; Murphy, David; Galehdari, Hamid; Shariati, Gholamreza; Mazaheri, Neda
Journal of Medical Genetics; Dec2021, Vol. 58 Issue 12, p815-831, 17p
Academic Journal
Sedighzadeh, Sahar Sadat; Sedaghat, Alireza; Zamani, Mina; Seifi, Tahere; Shariati, Gholamreza; Zeighami, Jawaher; Mazaheri, Neda; Galehdari, Hamid
Congenital Anomalies; Nov2021, Vol. 61 Issue 6, p220-225, 6p
Academic Journal
Maroofian, Reza; Sedmík, Jiří; Mazaheri, Neda; Scala, Marcello; Zaki, Maha S.; Keegan, Liam P.; Azizimalamiri, Reza; Issa, Mahmoud; Shariati, Gholamreza; Sedaghat, Alireza; Beetz, Christian; Bauer, Peter; Galehdari, Hamid; O'Connell, Mary A.; Houlden, Henry
Journal of Medical Genetics; Jul2021, Vol. 58 Issue 7, p495-504, 10p
Academic Journal
Zamani, Mina; Seifi, Tahereh; Zeighami, Jawaher; Mazaheri, Neda; Jahangirnezhad, Emad; Gholamzadeh, Minoo; Sedaghat, Alireza; Shariati, Gholamreza; Galehdari, Hamid
Academic Journal
Weerts, Marjolein J. A.; Lanko, Kristina; Guzman-Vega, Francisco J.; Jackson, Adam; Ramakrishnan, Reshmi; Cardona-Londono, Kelly J.; Pena-Guerra, Karla A.; van Bever, Yolande; van Paassen, Barbara W.; Kievit, Anneke; van Slegtenhorst, Marjon; Allen, Nicholas M.; Kehoe, Caroline M.; Robinson, Hannah K.; Pang, Lewis; Banu, Selina H.; Zaman, Mashaya; Efthymiou, Stephanie; Houlden, Henry; Jarvela, Irma; Lauronen, Leena; Maatta, Tuomo; Schrauwen, Isabelle; Leal, Suzanne M.; Ruivenkamp, Claudia A. L.; Barge-Schaapveld, Daniela Q. C. M.; Peeters-Scholte, Cacha M. P. C. D.; Galehdari, Hamid; Mazaheri, Neda; Sisodiya, Sanjay M.; Harrison, Victoria; Sun, Angela; Thies, Jenny; Pedroza, Luis Alberto; Lara-Taranchenko, Yana; Chinn, Ivan K.; Lupski, James R.; Garza-Flores, Alexandra; McGlothlin, Jeffery; Yang, Lin; Huang, Shaoping; Wang, Xiaodong; Jewett, Tamison; Rosso, Gretchen; Lin, Xi; Mohammed, Shehla; Merritt; J. Lawrence; Mirzaa, Ghayda M.; Timms, Andrew E.; Scheck, Joshua; Elting, Mariet W.; Polstra, Abeltje M.; Schenck, Lauren; Ruzhnikov, Maura R. Z.; Vetro, Annalisa; Montomoli, Martino; Guerrini, Renzo; Koboldt, Daniel C.; Mosher, Theresa Mihalic; Pastore, Matthew T.; McBride, Kim L.; Peng, Jing; Pan, Zou; Willemsen, Marjolein; Koning, Susanne; Turnpenny, Peter D.; de Vries, Bert B. A.; Gilissen, Christian; Pfundt, Rolph; Lees, Melissa; Braddock, Stephen R.; Klemp, Kara C.; Vansenne, Fleur; van Gijn, Marielle E.; Quindipan, Catherine; Deardorff, Matthew A.; Hamm, J. Austin; Putnam, Abbey M.; Baud, Rebecca; Walsh, Laurence; Lynch, Sally A.; Baptista, Julia; Person, Richard E.; Monaghan, Kristin G.; Crunk, Amy; Keller-Ramey, Jennifer; Reich, Adi; Elloumi, Houda Zghal; Alders, Marielle; Kerkhof, Jennifer; McConkey, Haley; Haghshenas, Sadegheh; Maroofian, Reza; Sadikovic, Bekim; Banka, Siddharth; Arold, Stefan T.; Barakat, Tahsin Stefan
Genet Med
Genomics England Research Consortium 2021, 'Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome', Genetics in Medicine, vol. 23, no. 11, pp. 2122-2137. https://doi.org/10.1038/s41436-021-01246-2
Genetics in Medicine, 23, 11, pp. 2122-2137
Genomics England Research Consortium 2021, 'Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome', Genetics in medicine : official journal of the American College of Medical Genetics. https://doi.org/10.1038/s41436-021-01246-2
Genetics in Medicine
Genomics England Research Consortium 2021, 'Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome', Genetics in Medicine, vol. 23, no. 11, pp. 2122-2137. https://doi.org/10.1038/s41436-021-01246-2
Genetics in Medicine, 23, 11, pp. 2122-2137
Genomics England Research Consortium 2021, 'Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome', Genetics in medicine : official journal of the American College of Medical Genetics. https://doi.org/10.1038/s41436-021-01246-2
Genetics in Medicine
Academic Journal
Wang, Haicui; Kaçar Bayram, Ayşe; Sprute, Rosanne; Ozdemir, Ozkan; Cooper, Emily; Pergande, Matthias; Efthymiou, Stephanie; Nedic, Ivana; Mazaheri, Neda; Stumpfe, Katharina; Azizi Malamiri, Reza; Shariati, Gholamreza; Zeighami, Jawaher; Bayram, Nurettin; Naghibzadeh, Seyed Kianoosh; Tajik, Mohamad; Yaşar, Mehmet; Sami Güven, Ahmet; Bibi, Farah; Sultan, Tipu
Frontiers in Neuroscience; 10/14/19, p1-15, 15p
Academic Journal
Muto, Valentina; Flex, Elisabetta; Kupchinsky, Zachary; Primiano, Guido; Galehdari, Hamid; Dehghani, Mohammadreza; Cecchetti, Serena; Carpentieri, Giovanna; Rizza, Teresa; Mazaheri, Neda; Sedaghat, Alireza; Vahidi Mehrjardi, Mohammad Yahya; Traversa, Alice; Di Nottia, Michela; Kousi, Maria M.; Jamshidi, Yalda; Ciolfi, Andrea; Caputo, Viviana; Malamiri, Reza Azizi; Pantaleoni, Francesca; Martinelli, Simone; Jeffries, Aaron R.; Zeighami, Jawaher; Sherafat, Amir; Di Giuda, Daniela; Shariati, Gholam Reza; Carrozzo, Rosalba; Katsanis, Nicholas; Maroofian, Reza; Servidei, Serenella; Tartaglia, Marco
Neurology. Jul 24, 2018 91(4):e319-e330
Academic Journal
Muto, Valentina; Flex, Elisabetta; Zachary Kupchinsky; Guido Primiano; Galehdari, Hamid; Dehghani, Mohammadreza; Cecchetti, Serena; Carpentieri, Giovanna; Rizza, Teresa; Mazaheri, Neda; Sedaghat, Alireza; Mehrjardi, Mohammad Yahya Vahidi; Traversa, Alice; Di Nottia, Michela; Kousi, Maria M.; Jamshidi, Yalda; Ciolfi, Andrea; Caputo, Viviana; Malamiri, Reza Azizi; Pantaleoni, Francesca
Academic Journal
Mazaheri, Neda; Peymani, Maryam; Galehdari, Hamid; Ghaedi, Kamran; Ghoochani, Ali; Kiani-Esfahani, Abbas; Nasr-Esfahani, Mohammad Hossein
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