Whole-Exome Sequencing Uncovers Novel Causative Variants and Additional Findings in Three Patients Affected by Glycogen Storage Disease Type VI and Fanconi−Bickel Syndrome

por Eghbali, Maryam, Fatemi, Kiyana Sadat, Salehpour, Shadab, Abiri, Maryam, Saei, Hassan, Talebi, Saeed, Olyaei, Nasrin Alipour, Yassaee, Vahid Reza, Modarressi, Mohammad Hossein
Publicado 2021

A decade of molecular preimplantation genetic diagnosis of 350 blastomeres for beta-thalassemia combined with HLA typing, aneuploidy screening and sex selection in Iran

por Keshvar, Yeganeh, Sabeghi, Solmaz, Sharifi, Zohreh, Fatemi, Kiyana Sadat, Fouladi, Panti, Younesi Khah, Shahrzad, Rahiminejad, Faezeh, Joudaki, Atefeh, Amini, Masoume, Bagherian, Hamideh, Ghaffari Novin, Marefat, Movahedin, Mansoureh, Mojbafan, Marzieh, Zeinali, Sirous
Publicado 2022