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International Journal of Cardiology|May 30, 2020
Genetic homozygosity in a diverse population: An experience of long QT syndromeNejat Mahdieh, Mohammadrafi Khorgami, Mahdieh Soveizi, et al.
International Journal of Genomics|June 28, 2024
Pancreatitis as a Main Consequence of APOC2-Related Hypertriglyceridemia: The Role of Nonsense and Frameshift VariantsBahareh Rabbani, Mohadeseh Aghli Moghadam, Shiva Esmaeili, 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.
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 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.
Neurogenetics|May 25, 2023
COLQ-related congenital myasthenic syndrome: An integrative viewTina Eshaghian, Bahareh Rabbani, Reza Shervin Badv, et al.
Pediatric Diabetes|May 16, 2012
HLA-DRB, -DQA, and DQB alleles and haplotypes in Iranian patients with diabetes mellitus type IAli Rabbani, Farzaneh Abbasi, Mohammad Taghvaei, et al.
Scientific Reports|February 6, 2021
Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variantsNejat Mahdieh, Mahdieh Soveizi, Ali Reza Tavasoli, et al.
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