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Journal of Molecular Neuroscience : MN|June 6, 2016
Linkage Study Revealed Complex Haplotypes in a Multifamily due to Different Mutations in CAPN3 Gene in an Iranian Ethnic GroupMarzieh Mojbafan, Seyed Hassan Tonekaboni, Maryam Abiri, et al.
Blood Cells, Molecules & Diseases|October 12, 2023
First report of a patient with homozygous hemoglobin Ernz: Evidence to support a non-pathogenic variantZohreh Shojaei, Maryam Abiri, Fatemeh Zafarghandi Motlagh, et al.
Genetics and Molecular Biology|June 4, 2011
Replication of TCF7L2 rs7903146 association with type 2 diabetes in an Iranian populationMahsa M Amoli, Parvin Amiri, Javad Tavakkoly-Bazzaz, et al.
Frontiers in Genetics|January 28, 2021
Whole-Exome Sequencing Uncovers Novel Causative Variants and Additional Findings in Three Patients Affected by Glycogen Storage Disease Type VI and Fanconi-Bickel SyndromeMaryam Eghbali, Kiyana Sadat Fatemi, Shadab Salehpour, et al.
Orphanet Journal of Rare Diseases|February 2, 2020
Genotype-phenotype correlation and description of two novel mutations in Iranian patients with glycogen storage disease 1b (GSD1b)Maryam Eghbali, Maryam Abiri, Saeed Talebi, et al.
Mutation Research|February 23, 2016
Identification of six novel mutations in Iranian patients with maple syrup urine disease and their in silico analysisMaryam Abiri, Razieh Karamzadeh, Morteza Karimipoor, et al.
JIMD Reports|May 27, 2015
Molecular Characterization of QDPR Gene in Iranian Families with BH4 Deficiency: Reporting Novel and Recurrent MutationsHannaneh Foroozani, Maryam Abiri, Shadab Salehpour, et al.
The Journal of Investigative Dermatology|December 1, 2016
Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous MarriagesHassan Vahidnezhad, Leila Youssefian, Sirous Zeinali, et al.
Metabolic Brain Disease|July 20, 2018
Autozygosity mapping of methylmalonic acidemia associated genes by short tandem repeat markers facilitates the identification of five novel mutations in an Iranian patient cohortMehdi Shafaat, Mohammad Reza Alaee, Ali Rahmanifar, et al.
Metabolic Brain Disease|August 11, 2016
In silico analysis of novel mutations in maple syrup urine disease patients from IranMaryam Abiri, Razieh Karamzadeh, Marziyeh Mojbafan, et al.
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