Genotype-phenotype correlation and description of two novel mutations in Iranian patients with glycogen storage disease 1b (GSD1b)

by Maryam Eghbali, Maryam Abiri, Saeed Talebi, Zahra Noroozi, Marjan Shakiba, Parastoo Rostami, Hosein Alimadadi, Mehri Najafi, Fatemeh Yazarlou, Ali Rabbani, Mohammad Hossein Modarressi
Published 2020-01-01

Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro‐oculo‐facio‐skeletal syndrome

by Abir Ben Haj Ali, Ahlem Amouri, Marwa Sayeb, Saloua Makni, Wajih Hammami, Chokri Naouali, Hamza Dallali, Lilia Romdhane, Anu Bashamboo, Kenneth McElreavey, Sonia Abdelhak, Olfa Messaoud
Published 2019-07-01

Mutational spectrum of autosomal recessive limb-girdle muscular dystrophies in a cohort of 112 Iranian patients and reporting of a possible founder effect

by Marzieh Mojbafan, Reza Bahmani, Samira Dabbagh Bagheri, Zohreh Sharifi, Sirous Zeinali
Published 2020-01-01

Reporting a rare form of myopathy, myopathy with extrapyramidal signs, in an Iranian family using next generation sequencing: a case report

by Marzieh Mojbafan, Somayeh Takrim Nojehdeh, Faezeh Rahiminejad, Yalda Nilipour, Seyed Hasan Tonekaboni, Sirous Zeinali
Published 2020-04-01

Exome sequencing identifies NFS1 deficiency in a novel Fe‐S cluster disease, infantile mitochondrial complex II/III deficiency

by Sali M. K. Farhan, Jian Wang, John F. Robinson, Piya Lahiry, Victoria M. Siu, Chitra Prasad, Jonathan B. Kronick, David A. Ramsay, C. Anthony Rupar, Robert A. Hegele
Published 2014-01-01