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SaveShare Save Share Save Identification of Two Rare Variants in Iranian Families With Familial Sudden Cardiac Death
Tahmasebivand, Mahsa; Mehvari, Sepideh; Ghodratpour, Fatemeh; Khoram Khorshid, Hamidreza; Malekzadeh, Reza; Najafipour, Reza; Riazalhosseini, Yasser; Lathrop, Mark; Najmabadi, Hossein; Kahrizi, Kimia Share Save Share Save Biallelic Variant in NRDC Gene in Two Siblings With Developmental Delay and SeizuresFatehi, Fatemeh; Ghorbanoghli, Zeinab; Kooshki, Mahdieh; Najafabadi, Shima Zamanian; Noudehi, Khadijeh; Amooian, Sepideh; Taghiloo, Aidin; Makvand, Mina; Najmabadi, Hossein; Kariminejad, Ariana Share Save Share Save Share Save Share Save Share Save Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zoneNair, Divya; Li, Dong; Erdogan, Hannah; Yoon, Andrew; Harr, Margaret H.; Bergant, Gaber; Peterlin, Borut; Pusenjak, Marusa Skrjanec; Jayakar, Parul; Pfundt, Rolph; Jansen, Sandra; McWalter, Kirsty; Sidhu, Alpa; Saliganan, Sheila; Agolini, Emanuele; Jacob, Arthur; Pasquier, Jennifer; Arash, Rafii; Kahrizi, Kimia; Najmabadi, Hossein; Ropers, Hans-Hilger; Bhoj, Elizabeth J. Share Save Identification of microRNAs associated with human fragile X syndrome using next-generation sequencingAnvari, Maryam Sotoudeh; Vasei, Hamed; Najmabadi, Hossein; Badv, Reza Shervin; Golipour, Akram; Mohammadi-Yeganeh, Samira; Salehi, Saeede; Mohamadi, Mahmood; Goodarzynejad, Hamidreza; Mowla, Seyed Javad Share Save ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequencesSumathipala, Dulika; Stromme, Petter; Fattahi, Zohreh; Luders, Torben; Sheng, Ying; Kahrizi, Kimia; Einarsen, Ingunn Holm; Sloan, Jennifer L.; Najmabadi, Hossein; van den Heuvel, Lambert; Wevers, Ron A.; Guerrero-Castillo, Sergio; Morkrid, Lars; Valayannopoulos, Vassili; Backe, Paul Hoff; Venditti, Charles P.; van Karnebeek, Clara D.; Nilsen, Hilde; Frengen, Eirik; Misceo, Doriana Share Save Share Save Share Save SARS-CoV-2 outbreak in Iran: The dynamics of the epidemic and evidence on two independent introductionsFattahi, Zohreh; Mohseni, Marzieh; Jalalvand, Khadijeh; Aghakhani Moghadam, Fatemeh; Ghaziasadi, Azam; Keshavarzi, Fatemeh; Yavarian, Jila; Jafarpour, Ali; Mortazavi, Seyedeh Elham; Ghodratpour, Fatemeh; Behravan, Hanieh; Khazeni, Mohammad; Momeni, Seyed Amir; Jahanzad, Issa; Moradi, Abdolvahab; Tabarraei, Alijan; Azimi, Sadegh Ali; Kord, Ebrahim; Hashemi-Shahri, Seyed Mohammad; Azaran, Azarakhsh; Yousefi, Farid; Mokhames, Zakiye; Soleimani, Alireza; Ghafari, Shokouh; Ziaee, Masood; Habibzadeh, Shahram; Jeddi, Farhad; Hadadi, Azar; Abdollahi, Alireza; Kaydani, Gholam Abbas; Soltani, Saber; Mokhtari-Azad, Talat; Najafipour, Reza; Malekzadeh, Reza; Kahrizi, Kimia; Jazayeri, Seyed Mohammad; Najmabadi, Hossein Share Save Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3Nair, Divya; Li, Dong; Erdogan, Hannah; Yoon, Andrew; Harr, Margaret H.; Bergant, Gaber; Peterlin, Borut; Pusenjak, Marusa Skrjanec; Jayakar, Parul; Pfundt, Rolph; Jansen, Sandra; McWalter, Kirsty; Sidhu, Alpa; Saliganan, Sheila; Agolini, Emanuele; Jacob, Arthur; Pasquier, Jennifer; Arash, Rafii; Kahrizi, Kimia; Najmabadi, Hossein; Ropers, Hans-Hilger; Bhoj, Elizabeth J. Share Save Share Save POLRMT mutations impair mitochondrial transcription causing neurological diseaseOlahova, Monika; Peter, Bradley; Szilagyi, Zsolt; Diaz-Maldonado, Hector; Singh, Meenakshi; Sommerville, Ewen W.; Blakely, Emma L.; Collier, Jack J.; Hoberg, Emily; Stranecky, Viktor; Hartmannova, Hana; Bleyer, Anthony J.; McBride, Kim L.; Bowden, Sasigarn A.; Korandova, Zuzana; Pecinova, Alena; Ropers, Hans-Hilger; Kahrizi, Kimia; Najmabadi, Hossein; Tarnopolsky, Mark A.; Brady, Lauren I.; Weaver, K. Nicole; Prada, Carlos E.; Ounap, Katrin; Wojcik, Monica H.; Pajusalu, Sander; Syeda, Safoora B.; Pais, Lynn; Estrella, Elicia A.; Bruels, Christine C.; Kunkel, Louis M.; Kang, Peter B.; Bonnen, Penelope E.; Mracek, Tomas; Kmoch, Stanislav; Gorman, Grainne S.; Falkenberg, Maria; Gustafsson, Claes M.; Taylor, Robert W. Share Save Subcellular relocalization and nuclear redistribution of the RNA methyltransferases TRMT1 and TRMT1L upon neuronal activationJonkhout, Nicky; Cruciani, Sonia; Santos Vieira, Helaine Graziele; Tran, Julia; Liu, Huanle; Liu, Ganqiang; Pickford, Russell; Kaczorowski, Dominik; Franco, Gloria R.; Vauti, Franz; Camacho, Noelia; Abedini, Seyedeh Sedigheh; Najmabadi, Hossein; Ribas de Pouplana, Lluis; Christ, Daniel; Schonrock, Nicole; Mattick, John S.; Novoa, Eva Maria Share Save 
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