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International Journal of Pediatric Otorhinolaryngology|March 26, 2013
A transversion mutation in non-coding exon 3 of the TMC1 gene in two ethnically related Iranian deaf families from different geographical regions; evidence for founder effectElham Davoudi-Dehaghani, Sirous Zeinali, Nejat Mahdieh, et al.
Annals of Human Genetics|May 20, 2017
Autosomal Recessive Nonsyndromic Arrhythmogenic Right Ventricular Cardiomyopathy without Cutaneous Involvements: A Novel MutationMahdieh Soveizi, Bahareh Rabbani, Yousef Rezaei, et al.
Acta Neurologica Belgica|November 11, 2020
Identification of a novel missense c.386G > A variant in a boy with the POMGNT1-related muscular dystrophy-dystroglycanopathyPouria Mohammadi, Mohammad Ali Daneshmand, Nejat Mahdieh, et al.
Clinical Neurology and Neurosurgery|February 7, 2018
Pathogenic significance of SCN1A splicing variants causing Dravet syndrome: Improving diagnosis with targeted sequencing for variants by in silico analysisNejat Mahdieh, Sepideh Mikaeeli, Reza Shervin Badv, et al.
Clinical Laboratory|May 1, 2014
A case-control study on the association of common variants of CAPN10 gene and the risk of type 2 diabetes in an Iranian populationFarajollah Maleki, Karimeh Haghani, Shabnam Shokouhi, et al.
Journal of Clinical Laboratory Analysis|September 28, 2018
Mosaic trisomy 22 in a 4-year-old boy with congenital heart disease and general hypotrophy: A case reportSamira Kalayinia, Tina Shahani, Alireza Biglari, et al.
Protein Expression and Purification|June 15, 2016
Design, expression and evaluation of a novel humanized single chain antibody against epidermal growth factor receptor (EGFR)Bahman Akbari, Safar Farajnia, Nosratollah Zarghami, et al.
Clinical Neurology and Neurosurgery|June 19, 2021
GFAP variants leading to infantile Alexander disease: Phenotype and genotype analysis of 135 cases and report of a de novo variantKatayoun Heshmatzad, Mahya Haghi Panah, Ali Reza Tavasoli, et al.
International Journal of Pediatric Otorhinolaryngology|August 22, 2012
Screening of OTOF mutations in Iran: a novel mutation and reviewNejat Mahdieh, Atefeh Shirkavand, Bahareh Rabbani, et al.
International Journal of Endocrinology|August 13, 2024
Expanding the Phenotype of Congenital Glucocorticoid Deficiency: An Iranian Patient with Cholestasis due to Pathogenic Variants in the MC2R GeneShohreh Maleknejad, Setila Dalili, Ameneh Sharifi, et al.
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