P483: A comprehensive study of spinal muscular atrophy testing referrals’ data among the Iranian population since 2006 by Ali Khanbazi, Maryam Beheshtian, Maryam Azad, Masoume Akbari, Fariba Afrozan, Fatemeh Fatehi, Khadijeh Noudehi, Shima Zamanian Najafabadi, Ariana Kariminejad, Kimia Kahrizi, Hossein Najmabadi

Get full text

P604: Diagnostic utility of NGS testing in a highly consanguineous population: Findings from 1400+ Iranian patients with Mendelian disorders by Ayda Abolhassani, Zohreh Fattahi, Maryam Beheshtian, Mahsa Fadaee, Raheleh Vazehan, Fatemeh Ahangari, Shima Dehdahsi, Mehrshid Faraji Zonooz, Elham Parsimehr, Zahra Kalhor, Fatemeh Peymani, Maryam Mozaffarpour Nouri, Mojgan Babanejad, Khadijeh Noudehi, Fatemeh Fatehi, Shima Zamanian Najafabadi, Fariba Afroozan, Hilda Yazdan, Bita Bozorgmehr, Azita Azarkeivan, Shokouh Sadat Mahdavi, Pooneh Nikuei, Farzad Fatehi, Payman Jamali, Mahmoud Reza Ashrafi, Parvaneh Karimzadeh, Haleh Habibi, Kimia Kahrizi, Shahriar Nafissi, Ariana Kariminejad, Hossein Najmabadi

Get full text

Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population by Ayda Abolhassani, Zohreh Fattahi, Maryam Beheshtian, Mahsa Fadaee, Raheleh Vazehan, Fatemeh Ahangari, Shima Dehdahsi, Mehrshid Faraji Zonooz, Elham Parsimehr, Zahra Kalhor, Fatemeh Peymani, Maryam Mozaffarpour Nouri, Mojgan Babanejad, Khadijeh Noudehi, Fatemeh Fatehi, Shima Zamanian Najafabadi, Fariba Afroozan, Hilda Yazdan, Bita Bozorgmehr, Azita Azarkeivan, Shokouh Sadat Mahdavi, Pooneh Nikuei, Farzad Fatehi, Payman Jamali, Mahmoud Reza Ashrafi, Parvaneh Karimzadeh, Haleh Habibi, Kimia Kahrizi, Shahriar Nafissi, Ariana Kariminejad, Hossein Najmabadi

Get full text