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Experimental Dermatology|November 20, 2020
Investigating the association of Lamotrigine and Phenytoin-induced Stevens-Johnson syndrome/Toxic Epidermal Necrolysis with HLA-B*1502 in Iranian populationSara Sabourirad, Reza Mortezaee, Majid Mojarad, et al.Clinical Genetics|January 6, 2025
Deciphering the Genetic and Epidemiological Landscape of Inherited Retinal Diseases (IRDs) in a Cohort of Eastern Iranian PatientsReza Mousavi Ardehaie, Atieh Eslahi, Masoome Alerasool, et al.Human Genomics|July 9, 2021
TMEM263: a novel candidate gene implicated in human autosomal recessive severe lethal skeletal dysplasiaMahsa Sadat Asl Mohajeri, Atieh Eslahi, Zeinab Khazaii, et al.Fetal and Pediatric Pathology|December 25, 2018
Targeted Mutation Analysis of the SLC26A4, MYO6, PJVK and CDH23 Genes in Iranian Patients with AR Nonsyndromic Hearing LossMaliheh Alimardani, Seyed Mojtaba Hosseini, Mahmoud Shekari Khaniani, et al.Iranian Journal of Basic Medical Sciences|January 27, 2022
PLA2G6 gene mutation and infantile neuroaxonal degeneration; report of three cases from IranReza Jafarzadeh Esfehani, Atieh Eslahi, Mehran Beiraghi Toosi, et al.Biochemical Genetics|February 26, 2024
Characterizing Homozygous Variants in Bardet-Biedl Syndrome-Associated Genes Within Iranian Families: Unveiling a Founder Variant in BBS2, c.471G>AMasoumeh Heidari Feizabadi, Masoome Alerasool, Atieh Eslahi, et al.Journal of Cellular and Molecular Medicine|February 25, 2026
Comprehensive Clinical, Diagnostic, and In Silico Assessment of a Novel 1p36.33p36.32 Copy Number VariantAtieh Eslahi, Mir Salar Kahaei, Bita Barazandeh Shirvan, et al.Clinical Genetics|August 6, 2024
Genetic landscape of hearing loss in prelingual deaf patients of eastern Iran: Insights from exome sequencing analysisMasoome Alerasool, Atieh Eslahi, Barbara Vona, et al.HGG Advances|April 1, 2021
TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromesJulie C Van De Weghe, Jessica L Giordano, Inge B Mathijssen, et al.Brain : a Journal of Neurology|July 25, 2020
Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variantsCaroline Neuray, Reza Maroofian, Marcello Scala, et al.Pageof 3