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收藏Exome Sequencing Reveals Novel Variants in Genetic Skeletal Disorders: Insights From a Cohort in Southwest Iran外显子测序揭示遗传性骨骼疾病中的新变异：来自伊朗西南部队列的见解
Zabihi, Rezvan; Zamani, Mina; Chamanrou, Niloofar; Zeighami, Jawaher; Seifi, Tahere; Ashoori, Saeed; Parvas, Sahere; Yadegari, Tahere; Mousavi, Fateme; Khajevandian, Elham; Sarvari, Moslem; Shojaei, Kobra; Nourbakhsh, Pardis; Keikhaei, Bijan; Aminzadeh, Majid; Ahmadi, Raha; Anaei, Marzieh Mohammadi; Sedaghat, Alireza; Saberi, Alihossein; Hamid, Mohammad; Shariati, Golamreza; Galehdari, Hamid 分享 收藏 ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformationsLaugwitz, Lucia; Cheng, Fubo; Collins, Stephan C.; Hustinx, Alexander; Navarro, Nicolas; Welsch, Simon; Cox, Helen; Hsieh, Tzung-Chien; Vijayananth, Aswinkumar; Buchert, Rebecca; Bender, Benjamin; Efthymiou, Stephanie; Murphy, David; Zafar, Faisal; Rana, Nuzhat; Grasshoff, Ute; Falb, Ruth J.; Grimmel, Mona; Seibt, Annette; Zheng, Wenxu; Ghaedi, Hamid; Thirion, Marie; Couette, Sebastien; Azizimalamiri, Reza; Sadeghian, Saeid; Galehdari, Hamid; Zamani, Mina; Zeighami, Jawaher; Sedaghat, Alireza; Ramshe, Samira Molaei; Zare, Ali; Alipoor, Behnam; Klee, Dirk; Sturm, Marc; Ossowski, Stephan; Houlden, Henry; Riess, Olaf; Wieczorek, Dagmar; Gavin, Ryan; Maroofian, Reza; Krawitz, Peter; Yalcin, Binnaz; Distelmaier, Felix; Haack, Tobias B. 分享 收藏 分享 收藏 Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders双等位基因MED27变体导致运动障碍的可变脑-小脑-变性Maroofian, Reza; Kaiyrzhanov, Rauan; Cali, Elisa; Zamani, Mina; Zaki, Maha S.; Ferla, Matteo; Tortora, Domenico; Sadeghian, Saeid; Saadi, Saadia Maryam; Abdullah, Uzma; Karimiani, Ehsan Ghayoor; Efthymiou, Stephanie; Yesil, Goezde; Alavi, Shahryar; Al Shamsi, Aisha M.; Tajsharghi, Homa; Abdel-Hamid, Mohamed S.; Saadi, Nebal Waill; Al Mutairi, Fuad; Alabdi, Lama; Beetz, Christian; Ali, Zafar; Toosi, Mehran Beiraghi; Rudnik-Schoeneborn, Sabine; Babaei, Meisam; Isohanni, Pirjo; Muhammad, Jameel; Khan, Sheraz; Al Shalan, Maha; Hickey, Scott E.; Marom, Daphna; Elhanan, Emil; Kurian, Manju A.; Marafi, Dana; Saberi, Alihossein; Hamid, Mohammad; Spaull, Robert; Meng, Linyan; Lalani, Seema; Maqbool, Shazia; Rahman, Fatima; Seeger, Juergen; Palculict, Timothy Blake; Lau, Tracy; Murphy, David; Mencacci, Niccolo Emanuele; Steindl, Katharina; Begemann, Anais; Rauch, Anita; Akbas, Sinan; Aslanger, Ayca Dilruba; Salpietro, Vincenzo; Yousaf, Hammad; Ben-Shachar, Shay; Ejeskaer, Katarina; Al Aqeel, Aida, I; High, Frances A.; Armstrong-Javors, Amy E.; Zahraei, Seyed Mohammadsaleh; Seifi, Tahereh; Zeighami, Jawaher; Shariati, Gholamreza; Sedaghat, Alireza; Asl, Samaneh Noroozi; Shahrooei, Mohmmad; Zifarelli, Giovanni; Burglen, Lydie; Ravelli, Claudia; Zschocke, Johannes; Schatz, Ulrich A.; Ghavideldarestani, Maryam; Kamel, Walaa A.; Van Esch, Hilde; Hackenberg, Annette; Taylor, Jenny C.; Al-Gazali, Lihadh; Bauer, Peter; Gleeson, Joseph J.; Alkuraya, Fowzan Sami; Lupski, James R.; Galehdari, Hamid; Azizimalamiri, Reza; Chung, Wendy K.; Baig, Shahid Mahmood; Houlden, Henry; Severino, Mariasavina 分享 收藏 Phenotypic continuum of NFU1-related disordersKaiyrzhanov, Rauan; Zaki, Maha S.; Lau, Tracy; Sen, Sambuddha; Azizimalamiri, Reza; Zamani, Mina; Sayin, Gozde Yesil; Hilander, Taru; Efthymiou, Stephanie; Chelban, Viorica; Brown, Ruth; Thompson, Kyle; Scarano, Maria Irene; Ganesh, Jaya; Koneev, Kairgali; Gulacar, Ismail Musab; Person, Richard; Sadykova, Dinara; Maidyrov, Yerdan; Seifi, Tahereh; Zadagali, Aizhan; Bernard, Genevieve; Allis, Katrina; Elloumi, Houda Zghal; Lindy, Amanda; Taghiabadi, Ehsan; Verma, Sumit; Logan, Rachel; Kirmse, Brian; Bai, Renkui; Khalaf, Shaimaa M.; Abdel-Hamid, Mohamed S.; Sedaghat, Alireza; Shariati, Gholamreza; Issa, Mahmoud; Zeighami, Jawaher; Elbendary, Hasnaa M.; Brown, Garry; Taylor, Robert W.; Galehdari, Hamid; Gleeson, Joseph J.; Carroll, Christopher J.; Cowan, James A.; Moreno-De-Luca, Andres; Houlden, Henry; Maroofian, Reza 分享 收藏 Mesenchymal stromal cell therapy for COVID-19-induced ARDS patients: a successful phase 1, control-placebo group, clinical trialKaffash Farkhad, Najmeh; Sedaghat, Alireza; Reihani, Hamidreza; Adhami Moghadam, Amir; Bagheri Moghadam, Ahmad; Khadem Ghaebi, Nayereh; Khodadoust, Mohammad Ali; Ganjali, Rashin; Tafreshian, Amir Reza; Tavakol-Afshari, Jalil 分享 收藏 TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegiaTabara, 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; Harrold, Laura; Keren, Boris; Kunji, Edmund R. S.; Vona, Barbara; Jelodar, Gholamreza; Sedaghat, Alireza; Shariati, Gholamreza; Houlden, Henry; Crosby, Andrew H.; Prudent, Julien; Baple, Emma L. 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 Whole-Exome Sequencing Application for Genetic Diagnosis of Kidney Diseases: A Study from Southwest of IranZamani, Mina; Seifi, Tahereh; Sedighzadeh, Sahar; Negahdari, Samira; Zeighami, Jawaher; Sedaghat, Alireza; Yadegari, Tahereh; Saberi, Alihossein; Hamid, Mohammad; Shariati, Gholamreza; Galehdari, Hamid 分享 收藏 分享 收藏 Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3Osborn, 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; Goullee, Hayley; Laing, Nigel; Jamshidi, Yalda; Tajsharghi, Homa 分享 收藏 Efficacy and safety of convalescent plasma therapy in severe COVID-19 patients with acute respiratory distress syndrome *Allahyari, Abolghasem; Seddigh-Shamsi, Mohsen; Mahmoudi, Mahmoud; Jamehdar, Saeid Amel; Amini, Mahnaz; Mozdourian, Mahnaz; Javidarabshahi, Zahra; Abadi, Saeed Eslami Hasan; Amini, Shahram; Sedaghat, Alireza; Emadzadeh, Maryam; Nodeh, Mohammad Moeini; Rahimi, Hossein; Bari, Alireza; Mozaheb, Zahra; Kamandi, Mostafa; Azimi, Sajad Ataei; Abrishami, Mojtaba; Akbarian, Arezoo; Ataei, Parisa; Allahyari, Negin; Hasanzadeh, Sepideh; Saeedian, Neda 分享 收藏 Nutritional adequacy in critically ill patients: Result of PNSI studyJavid, Zeinab; Shadnoush, Mahdi; Khadem-Rezaiyan, Majid; Honarvar, Niyaz Mohammad Zadeh; Sedaghat, Alireza; Hashemian, Seyed Mohammadreza; Ardehali, Seyed Hossein; Nematy, Mohsen; Pournik, Omid; Beigmohammadi, Mohammad Taghi; Safarian, Mohammad; Moghaddam, Omid Moradi; Khoshfetrat, Masoum; Zand, Farid; Alizadeh, Afshin Mohammad; Monfared, Mahboube Kosari; Eftekhar, Fatemeh Mazaheri; Narab, Maryam Mohamadi; Taheri, Arefe Sadat; Babakhani, Khatereh; Foroutan, Behnam; Jamialahmadi, Tannaz; Gangeh, Bahareh Jabbarzadeh; Meshkani, Mehrnoush; Kimiaee, Fahime; Norouzy, Abdolreza 分享 收藏 A biallelic variant in CLRN2 causes non-syndromic hearing loss in humansCLRN2中的双等位基因变体导致人类非综合征性听力损失Vona, Barbara; Mazaheri, Neda; Lin, Sheng-Jia; Dunbar, Lucy A.; Maroofian, Reza; Azaiez, Hela; Booth, Kevin T.; Vitry, Sandrine; Rad, Aboulfazl; Rueschendorf, Franz; Varshney, Pratishtha; Fowler, Ben; Beetz, Christian; Alagramam, Kumar N.; Murphy, David; Shariati, Gholamreza; Sedaghat, Alireza; Houlden, Henry; Petree, Cassidy; VijayKumar, Shruthi; Smith, Richard J. H.; Haaf, Thomas; El-Amraoui, Aziz; Bowl, Michael R.; Varshney, Gaurav K.; Galehdari, Hamid 分享 收藏 Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndromeDe Nittis, Pasquelena; Efthymiou, Stephanie; Sarre, Alexandre; Guex, Nicolas; Chrast, Jacqueline; Putoux, Audrey; Sultan, Tipu; Alvi, Javeria Raza; Rahman, Zia Ur; Zafar, Faisal; Rana, Nuzhat; Rahman, Fatima; Anwar, Najwa; Maqbool, Shazia; Zaki, Maha S.; Gleeson, Joseph G.; Murphy, David; Galehdari, Hamid; Shariati, Gholamreza; Mazaheri, Neda; Sedaghat, Alireza; Lesca, Gaetan; Chatron, Nicolas; Salpietro, Vincenzo; Christoforou, Marilena; Houlden, Henry; Simonds, William F.; Pedrazzini, Thierry; Maroofian, Reza; Reymond, Alexandre 分享 收藏 A relatively common homozygousTRAPPC4splicing variant is associated with an early-infantile neurodegenerative syndromeGhosh, Shereen G.; Scala, Marcello; Beetz, Christian; Helman, Guy; Stanley, Valentina; Yang, Xiaoxu; Breuss, Martin W.; Mazaheri, Neda; Selim, Laila; Hadipour, Fatemeh; Pais, Lynn; Stutterd, Chloe A.; Karageorgou, Vasiliki; Begtrup, Amber; Crunk, Amy; Juusola, Jane; Willaert, Rebecca; Flore, Leigh A.; Kennelly, Kelly; Spencer, Christopher; Brown, Martha; Trapane, Pamela; Hurst, Anna C. E.; Rutledge, S. Lane; Goodloe, Dana H.; McDonald, Marie T.; Shashi, Vandana; Schoch, Kelly; Tomoum, Hoda; Zaitoun, Raghda; Hadipour, Zahra; Galehdari, Hamid; Pagnamenta, Alistair T.; Mojarrad, Majid; Sedaghat, Alireza; Dias, Patricia; Quintas, Sofia; Eslahi, Atiyeh; Shariati, Gholamreza; Bauer, Peter; Simons, Cas; Houlden, Henry; Issa, Mahmoud Y.; Zaki, Maha S.; Maroofian, Reza; Gleeson, Joseph G. 分享 收藏 
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