Showing results (11-20 of 94) with videos related to
Sort By:
Pageof 10
European Archives of Oto-Rhino-Laryngology : Official Journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : Affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery|June 11, 2015
GJB2 mutations in deaf population of Ilam (Western Iran): a different pattern of mutation distributionNejat Mahdieh, Hamdollah Mahmoudi, Soleiman Ahmadzadeh, et al.International Journal of Pediatric Otorhinolaryngology|April 10, 2017
MYO15A splicing mutations in hearing loss: A review literature and report of a novel mutationMahsa Motavaf, Mahdieh Soveizi, Majid Maleki, et al.Laboratory Medicine|May 4, 2021
Whole-Exome Sequencing Reveals a Novel Mutation of FLNA Gene in an Iranian Family with Nonsyndromic Tetralogy of FallotSamira Kalayinia, Majid Maleki, Mohammad Mahdavi, et al.International Journal of Pediatric Otorhinolaryngology|July 9, 2010
High level of intrafamilial phenotypic variability of non-syndromic hearing loss in a Lur family due to delE120 mutation in GJB2 geneNejat Mahdieh, Hamideh Bagherian, Atefeh Shirkavand, et al.Molecular Biosystems|April 13, 2016
Next generation sequencing: implications in personalized medicine and pharmacogenomicsBahareh Rabbani, Hirofumi Nakaoka, Shahin Akhondzadeh, et al.Iranian Biomedical Journal|April 9, 2008
The frequency of eight common point mutations in CYP21 gene in Iranian patients with congenital adrenal hyperplasiaAli Ramazani, Kimia Kahrizi, Maryam Razaghiazar, et al.Journal of Human Genetics|July 27, 2012
Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disordersBahareh Rabbani, Nejat Mahdieh, Kazuyoshi Hosomichi, et al.Orphanet Journal of Rare Diseases|January 13, 2026
Identification of a novel ACADSB variant for the presymptomatic diagnosis of 2-Methylbutyryl-CoA dehydrogenase deficiency through newborn screening in IranMaryam Nasri, Nejat Mahdieh, Farzaneh Abbasi, et al.International Journal of Endocrinology|December 23, 2021
An Iranian Congenital Adrenal Hypoplasia Patient with Elevated Testosterone in Infancy due to a Novel Pathogenic Frameshift Variant in NR0B1Samira Kalayinia, Saeed Talebi, Mohammad Miryounesi, et al.European Journal of Medical Research|January 12, 2023
A novel stop-gain pathogenic variant in the KCNQ1 gene causing long QT syndrome 1Samira Kalayinia, Mohammad Dalili, Maryam Pourirahim, et al.Pageof 10