Identification of a novel non-stop mutation in PDE6C gene in an Iranian family with Con-Rod Dystrophy

by Shahram Nasiri, Farah Talebi, Javad Mohammadi Asl, Farideh Ghanbari Mardasi
Published 2020-08-01

Identification of a Novel Frameshift Mutation in the TECTA Gene in an Iranian Family With Autosomal Nonsyndromic Hearing Loss

by Javad Mohammadi-Asl, Nader Saki, Majid Karimi, Farideh Ghanbari Mardasi
Published 2021-03-01

Identification of A Novel Missense Mutation in The Norrie Disease Gene: The First Molecular Genetic Analysis and Prenatal Diagnosis of Norrie Disease in An Iranian Family

by Farah Talebi, Farideh Ghanbari Mardasi, Javad Mohammadi Asl, Ali Lashgari, Freidoon Farhadi
Published 2018-04-01

Identification of a Novel WFS1 Mutation Using the Whole Exome Sequencing in an Iranian Pedigree with Autosomal Dominant Hearing Loss

by Javad Mohammadi Asl, Nader Saki, Masoud Dehdashtiyan, Mostafa Neissi, Farideh Ghanbari Mardasi
Published 2021-05-01

Identification of Novel PTPRQ and MYO1A Mutations in An Iranian Pedigree with Autosomal Recessive Hearing Loss

by Farah Talebi, Farideh Ghanbari Mardasi, Javad Mohammadi Asl, Saeed Tizno, Marziyeh Najafvand Zadeh
Published 2018-01-01