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CAD gene and early infantile epileptic encephalopathy-50; three Iranian deceased patients and a novel mutation: case report

BMC pediatrics, 2022-03, Vol.22 (1), p.125-125, Article 125

2022

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Evaluation of mtDNA common deletion in esophageal squamous cell carcinoma

Indian journal of cancer, 2024-04, Vol.61 (2), p.363-367

2024

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A novel mutation in the glutaryl‐CoA dehydrogenase gene (GCDH) in an Iranian patient affected with Glutaric acidemia type 1

Clinical case reports, 2021-09, Vol.9 (9), p.e04749-n/a

2021

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Analysis of TMIE gene mutations including the first large deletion of exon 1 with autosomal recessive non-syndromic deafness

BMC medical genomics, 2022-06, Vol.15 (1), p.1-133, Article 133

2022

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Association study between polymorphisms in MIA3, SELE, SMAD3 and CETP genes and coronary artery disease in an Iranian population

BMC cardiovascular disorders, 2022-06, Vol.22 (1), p.1-298, Article 298

2022

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Cystinosis and two rare mutations in CTNS gene: two case reports

Journal of medical case reports, 2022-05, Vol.16 (1), p.181-181, Article 181

2022

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Waardenburg syndrome type 2A in a large Iranian family with a novel MITF gene mutation

BMC medical genomics, 2021-09, Vol.14 (1), p.230-8, Article 230

2021

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A novel frameshift mutation in the EDA gene in an Iranian patient affected by X-linked hypohidrotic ectodermal dysplasia

Cellular & molecular biology letters, 2019-08, Vol.24 (1), p.54-54, Article 54

2019

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Four mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report

BMC pediatrics, 2021-02, Vol.21 (1), p.70-70, Article 70

2021

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Novel mutation in TENM3 gene in an Iranian patient with colobomatous microphthalmia

Clinical case reports, 2022-03, Vol.10 (3), p.e05532-n/a

2022

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Genotyping of 2 Cholesteryl Ester Transfer Protein Gene Variants Among Coronary Artery Disease Patients

International journal of basic science in medicine, 2020-09, Vol.5 (3), p.96-100

2020

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Hereditary Ataxia with a Novel Mutation in the Senataxin Gene: A Case Report

Iranian journal of medical sciences, 2019-05, Vol.44 (3), p.262-264

2019

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Investigating the Association Between miR-608 rs4919510 and miR-149 rs2292832 with Colorectal Cancer in Iranian Population

MicroRNA, 2018, Vol.7 (2), p.100-106

2018

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Mutation detection and inhibitor risk in Iranian patients with Hemophilia A: Six novel mutations

Clinical case reports, 2020-12, Vol.8 (12), p.2976-2985

2020

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Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss

Molecular genetics & genomic medicine, 2020-12, Vol.8 (12), p.e1550-n/a

2020

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Mutation Analysis of ECM1 Gene in Two Related Iranian Patients Affected by Lipoid Proteinosis

Acta medica Iranica, 2018, Vol.56 (7), p.474

2018

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A novel deletion mutation in the ATP6V0A2 gene in an Iranian patient affected by autosomal recessive cutis laxa

Irish journal of medical science, 2023-10, Vol.192 (5), p.2279-2282

2023

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Mutation Detection in Activin A Receptor, Type I (ACVR1) Gene in Fibrodysplasia Ossificans Progressiva in An Iranian Family

Cell journal (Yakhteh), 2014-04, Vol.16 (1), p.91-94

2014

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Detecting rare triple heteroplasmic substitutions in the mitochondrial DNA control region: a potential concern for forensic DNA studies

Cell journal (Yakhteh), 2011, Vol.13 (2), p.103-106

2011

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Novel phenotype and genotype spectrum of NARS2 and literature review of previous mutations

Irish journal of medical science, 2022-08, Vol.191 (4), p.1877-1890

2022

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A Novel Mutation in Aicardi–Goutières' Syndrome: A Case Report

Journal of pediatric neurology, 2021-02, Vol.19 (1), p.50-53

2021

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Genetic study of a family with affected members with Waardenburg syndrome type 4 without Hirschsprung disease

European journal of clinical and experimental medicine, 2020, Vol.18 (2), p.93-100

2020

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Frequency of Y Chromosome Microdeletions in Azoospermic and Oligospermic Iranian Infertile Men

International journal of medical laboratory, 2020-06

2020

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Molecular analysis of patients with severe congenital factor X deficiency: First report from north and northwest of Iran

Hematology (Luxembourg), 2015-05, p.150525001701007

2015

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Linear and Circular Plasmids in Skin and Cerebrospinal Fluid Isolates of Borrelia burgdorferi Agent of Lyme Disease

Pakistan journal of biological sciences, 2006-12, Vol.9 (15), p.2787-2793

2006

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CAD gene and early infantile epileptic encephalopathy-50; three Iranian deceased patients and a novel mutation: case report

Evaluation of mtDNA common deletion in esophageal squamous cell carcinoma

A novel mutation in the glutaryl‐CoA dehydrogenase gene (GCDH) in an Iranian patient affected with Glutaric acidemia type 1

Analysis of TMIE gene mutations including the first large deletion of exon 1 with autosomal recessive non-syndromic deafness

Association study between polymorphisms in MIA3, SELE, SMAD3 and CETP genes and coronary artery disease in an Iranian population

Cystinosis and two rare mutations in CTNS gene: two case reports

Waardenburg syndrome type 2A in a large Iranian family with a novel MITF gene mutation

A novel frameshift mutation in the EDA gene in an Iranian patient affected by X-linked hypohidrotic ectodermal dysplasia

Four mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report

Novel mutation in TENM3 gene in an Iranian patient with colobomatous microphthalmia

Genotyping of 2 Cholesteryl Ester Transfer Protein Gene Variants Among Coronary Artery Disease Patients

Hereditary Ataxia with a Novel Mutation in the Senataxin Gene: A Case Report

Investigating the Association Between miR-608 rs4919510 and miR-149 rs2292832 with Colorectal Cancer in Iranian Population

Mutation detection and inhibitor risk in Iranian patients with Hemophilia A: Six novel mutations

Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss

Mutation Analysis of ECM1 Gene in Two Related Iranian Patients Affected by Lipoid Proteinosis

A novel deletion mutation in the ATP6V0A2 gene in an Iranian patient affected by autosomal recessive cutis laxa

Mutation Detection in Activin A Receptor, Type I (ACVR1) Gene in Fibrodysplasia Ossificans Progressiva in An Iranian Family

Detecting rare triple heteroplasmic substitutions in the mitochondrial DNA control region: a potential concern for forensic DNA studies

Novel phenotype and genotype spectrum of NARS2 and literature review of previous mutations

A Novel Mutation in Aicardi–Goutières' Syndrome: A Case Report

Genetic study of a family with affected members with Waardenburg syndrome type 4 without Hirschsprung disease

Frequency of Y Chromosome Microdeletions in Azoospermic and Oligospermic Iranian Infertile Men

Molecular analysis of patients with severe congenital factor X deficiency: First report from north and northwest of Iran

Linear and Circular Plasmids in Skin and Cerebrospinal Fluid Isolates of Borrelia burgdorferi Agent of Lyme Disease

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