Bi‐allelic loss of function variant in the NRCAM gene is associated with motor‐predominant axonal polyneuropathy; the second report

por Elahi, Zohreh, Soveyzi, Mohamad, Nafissi, Shahriar, Nilipour, Yalda, Goleyjani Moghadam, Masoumeh, Keshavarz, Elham, Kariminejad, Ariana, Najmabadi, Hossein, Fattahi, Zohreh
Publicado 2023

The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families

por Davarniya, Behzad, Hu, Hao, Kahrizi, Kimia, Musante, Luciana, Fattahi, Zohreh, Hosseini, Masoumeh, Maqsoud, Fariba, Farajollahi, Reza, Wienker, Thomas F., Ropers, H. Hilger, Najmabadi, Hossein
Publicado 2015

Whole genome sequencing identifies a duplicated region encompassing Xq13.2q13.3 in a large Iranian family with intellectual disability

por Mehvari, Sepideh, Larti, Farzaneh, Hu, Hao, Fattahi, Zohreh, Beheshtian, Maryam, Abedini, Seyedeh Sedigheh, Arzhangi, Sanaz, Ropers, Hans‐Hilger, Kalscheuer, Vera M., Auld, Daniel, Kahrizi, Kimia, Riazalhosseini, Yasser, Najmabadi, Hossein
Publicado 2020

Brief Report of Variants Detected in Hereditary Hearing Loss Cases in Iran over a 3-Year Period

por BAZAZZADEGAN, Niloofar, VAZEHAN, Raheleh, FADAEE, Mahsa, FATTAHI, Zohreh, ABOLHASSANI, Ayda, PARSIMEHR, Elham, KALHOR, Zahra, FARAJI ZONOOZ, Mehrshid, AHANGARI, Fatemeh, DEHDAHSI, Shima, SAMIEE, Farshide, JAMALI, Payman, HABIBI, Haleh, NOURIZADEH, Younes, MAHDAVI, Shokouh, BEHESHTIAN, Maryam, KARIMINEJAD, Ariana, SMITH, Richard JH, NAJMABADI, Hossein
Publicado 2019

Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability

por Sheikh, Taimoor I., Vasli, Nasim, Pastore, Stephen, Kharizi, Kimia, Harripaul, Ricardo, Fattahi, Zohreh, Pande, Shruti, Naeem, Farooq, Hussain, Abrar, Mir, Asif, Islam, Omar, Girisha, Katta Mohan, Irfan, Muhammad, Ayub, Muhammad, Schwarzer, Christoph, Najmabadi, Hossein, Shukla, Anju, Sladky, Valentina C., Braun, Vincent Zoran, Garcia-Carpio, Irmina, Villunger, Andreas, Vincent, John B.
Publicado 2021

ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences

por Sumathipala, Dulika, Strømme, Petter, Fattahi, Zohreh, Lüders, Torben, Sheng, Ying, Kahrizi, Kimia, Einarsen, Ingunn Holm, Sloan, Jennifer L, Najmabadi, Hossein, van den Heuvel, Lambert, Wevers, Ron A, Guerrero-Castillo, Sergio, Mørkrid, Lars, Valayannopoulos, Vassili, Backe, Paul Hoff, Venditti, Charles P, van Karnebeek, Clara D, Nilsen, Hilde, Frengen, Eirik, Misceo, Doriana
Publicado 2022

Distinct genetic variation and heterogeneity of the Iranian population

por Mehrjoo, Zohreh, Fattahi, Zohreh, Beheshtian, Maryam, Mohseni, Marzieh, Poustchi, Hossein, Ardalani, Fariba, Jalalvand, Khadijeh, Arzhangi, Sanaz, Mohammadi, Zahra, Khoshbakht, Shahrouz, Najafi, Farid, Nikuei, Pooneh, Haddadi, Mohammad, Zohrehvand, Elham, Oladnabi, Morteza, Mohammadzadeh, Akbar, Jafari, Mandana Hadi, Akhtarkhavari, Tara, Gooshki, Ehsan Shamsi, Haghdoost, Aliakbar, Najafipour, Reza, Niestroj, Lisa-Marie, Helwing, Barbara, Gossmann, Yasmina, Toliat, Mohammad Reza, Malekzadeh, Reza, Nürnberg, Peter, Kahrizi, Kimia, Najmabadi, Hossein, Nothnagel, Michael
Publicado 2019