Volume 12 (2024)
Volume 11 (2023)
Volume 10 (2022)
Volume 9 (2021)
Volume 8 (2020)
Volume 7 (2019)
Volume 6 (2018)
Volume 5 (2017)
Volume 4 (2016)
Volume 3 (2015)
Volume 2 (2014)
Volume 1 (2013)
Author = Dorgaleleh, Saeed
Number of Articles: 6
Whole-exome Sequencing Identified a Novel Hemizygous Missense Variant in the EDA Gene in an Iranian Patient Causing Hypohidrotic Ectodermal Dysplasia
Volume 10, Issue 9 , September 2022, , Pages 16641-16649
Abstract
Ectodermal dysplasia (ED) is a congenital heterogenic disorder caused by the defect in the ectoderm and its derivatives. This complex disorder has different subtypes, the most common ... Read More
Genetic Counseling for Families with Sporadic Intellectual Disability in North of Iran: A Retrospective Study
Volume 8, Issue 8 , August 2020, , Pages 11709-11718
Abstract
Background Intellectual Disability (ID) is a heterogeneous disorder, in which at least 600 genes participate. The present study aimed to identify the effect of genetic counseling and ... Read More
Detection of the Duplication in Exons 56-63 of Duchenne Muscular Dystrophy Patients with MLPA
Volume 8, Issue 7 , July 2020, , Pages 11617-11623
Abstract
Background Duchenne Muscular Dystrophy (DMD) is a deadly X-linked recessive disorder. This genetic disorder affects 1 among 3,500-5,000 males in the world. The majority of the patients ... Read More
Transfusion Related Adverse Effects on Beta-Thalassemia Major and New Therapeutic Approaches: A Review Study
Volume 8, Issue 7 , July 2020, , Pages 11651-11661
Abstract
Thalassemia is one of the most common genetic disorders, worldwide.Beta-Thalassemia Major (BTM) is the most severe type, which reduces lifeexpectancy and quality of life. In this study, ... Read More
Evaluation of the Efficacy of Lentiviral Vectors in Gene Therapy of Beta-thalassemia Patients: A Systematic Review
Volume 8, Issue 5 , May 2020, , Pages 11243-11250
Abstract
Background Beta thalassemiais a genetic blood abnormality identified through mutations, which reduce the synthesis of the ß-globin chain. Gene therapy through Lentiviral vectors ... Read More
NF1 Mutations Analysis Using Whole Exome Sequencing Technique in 11 Unrelated Iranian Families with Neurofibromatosis Type 1
Volume 8, Issue 5 , May 2020, , Pages 11311-11319