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A novel VPS13B mutation in Cohen syndrome: a case report and review of literature

BMC medical genetics, 2020-06, Vol.21 (1), p.1-140, Article 140

2020

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Novel Mutations of the TYMP Gene in Mitochondrial Neurogastrointestinal Encephalomyopathy: Case Series and Literature Review

Journal of molecular neuroscience, 2021-12, Vol.71 (12), p.2526-2533

2021

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Novel CARMIL2 (RLTPR) Mutation Presenting with Hyper-IgE and Eosinophilia: A Case Report

Endocrine, metabolic & immune disorders drug targets, 2024-01, Vol.24 (5), p.596-605

2024

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A novel homozygous RAG1 mutation is associated with severe combined immunodeficiency and neurological presentations

Allergologia et immunopathologia, 2021-01, Vol.49 (4), p.91-97

2021

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A 3-Year-Old Boy with an Xp21 Deletion Syndrome: A Case Report

Endocrine, metabolic & immune disorders drug targets, 2022-07, Vol.22 (8), p.881-887

2022

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Residual methylation of tumor suppressor gene promoters, RASSF6 and RASSF10, as novel biomarkers for minimal residual disease detection in adult acute lymphoblastic leukemia

Annals of hematology, 2019-12, Vol.98 (12), p.2719-2727

2019

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A novel X-linked mutation in IL2RG associated with early-onset inflammatory bowel disease: a case report of twin brothers

Journal of medical case reports, 2023-07, Vol.17 (1), p.307-307, Article 307

2023

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Genetic mutations and immunological features of severe combined immunodeficiency patients in Iran

Immunology letters, 2019-12, Vol.216, p.70-78

2019

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Novel DNMT3B Mutation in a Patient with Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome and a Bronchopulmonary Collateral Artery

Endocrine, metabolic & immune disorders drug targets, 2023-01, Vol.23 (3), p.410-415

2023

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Case Report of a Novel NFkB Mutation in a Lymphoproliferative Disorder Patient

Endocrine, metabolic & immune disorders drug targets, 2022-09, Vol.22 (10), p.1040-1046

2022

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Minimal Residual Disease Detection Using Gene Scanning Analysis, Fluorescent Fragment Analysis, and Capillary Electrophoresis for IgH Rearrangement in Adult B-Lineage Acute Lymphoblastic Leukemia: A Cross-Sectional Study

Cell journal (Yakhteh), 2023-02, Vol.25 (2), p.85-91

2023

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A Rare PTPN11 Mutation in a Patient with Juvenile Myelomonocytic Leukemia: A Case Report

Current pharmacogenomics and personalized medicine, 2022-08, Vol.19 (2), p.112-117

2022

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DNAH11 and a Novel Genetic Variant Associated with Situs Inversus: A Case Report and Review of the Literature

Case reports in medicine, 2023-04, Vol.2023, p.8436715-5

2023

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Breakthrough CO_2 adsorption in bio-based activated carbons

Journal of environmental sciences (China), 2015-08, Vol.34 (8), p.68-76

2015

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Passive-specific immunotherapy with monoclonal antibodies for prostate cancer: A systematic review

Journal of Oncology Pharmacy Practice, 2019-06, Vol.25 (4), p.903-917

2019

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Evaluation of MicroRNA-125b-5p and Transcription Factors BLIMP1 and IRF4 Expression in Unsolved Common Variable Immunodeficiency Patients

Iranian journal of allergy, asthma, and immunology, 2021-12, Vol.20 (6), p.700

2021

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Novel G6PC3 Mutations in Patients with Congenital Neutropenia: Case Reports and Review of the Literature

Endocrine, metabolic & immune disorders drug targets, 2021-01, Vol.21 (9), p.1660-1668

2021

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Enhanced CO2 Adsorption Using MgO-Impregnated Activated Carbon: Impact of Preparation Techniques

Industrial & engineering chemistry research, 2016-05, Vol.55 (20), p.5955-5964

2016

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Genetics of neonatal diabetes mellitus

Acta medica Iranica, 2013, Vol.51 (1), p.73-74

2013

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Genetic predisposition to cutaneous sarcoidosis

Acta medica Iranica, 2012, Vol.50 (10), p.721-722

2012

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The hyper IgM syndromes: Epidemiology, pathogenesis, clinical manifestations, diagnosis and management

Clinical immunology (Orlando, Fla.), 2019-01, Vol.198, p.19-30

2019

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Enhanced CO 2 Adsorption Using MgO-Impregnated Activated Carbon: Impact of Preparation Techniques

Industrial & engineering chemistry research, 2016-05, Vol.55 (20), p.5955-5964

2016

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Selective CO2 Capture by Activated Carbons: Evaluation of the Effects of Precursors and Pyrolysis Process

Energy & fuels, 2015-11, Vol.29 (11), p.7433-7440

2015

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Primary immunodeficiency associated with hypopigmentation: A differential diagnosis approach

Allergologia et immunopathologia, 2021, Vol.49 (2), p.178-190

2021

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Effect of Class Switch Recombination Defect on the Phenotype of Ataxia-Telangiectasia Patients

Immunological investigations, 2021-02, Vol.50 (2-3), p.201-215

2021

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A novel VPS13B mutation in Cohen syndrome: a case report and review of literature

Novel Mutations of the TYMP Gene in Mitochondrial Neurogastrointestinal Encephalomyopathy: Case Series and Literature Review

Novel CARMIL2 (RLTPR) Mutation Presenting with Hyper-IgE and Eosinophilia: A Case Report

A novel homozygous RAG1 mutation is associated with severe combined immunodeficiency and neurological presentations

A 3-Year-Old Boy with an Xp21 Deletion Syndrome: A Case Report

Residual methylation of tumor suppressor gene promoters, RASSF6 and RASSF10, as novel biomarkers for minimal residual disease detection in adult acute lymphoblastic leukemia

A novel X-linked mutation in IL2RG associated with early-onset inflammatory bowel disease: a case report of twin brothers

Genetic mutations and immunological features of severe combined immunodeficiency patients in Iran

Novel DNMT3B Mutation in a Patient with Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome and a Bronchopulmonary Collateral Artery

Case Report of a Novel NFkB Mutation in a Lymphoproliferative Disorder Patient

Minimal Residual Disease Detection Using Gene Scanning Analysis, Fluorescent Fragment Analysis, and Capillary Electrophoresis for IgH Rearrangement in Adult B-Lineage Acute Lymphoblastic Leukemia: A Cross-Sectional Study

A Rare PTPN11 Mutation in a Patient with Juvenile Myelomonocytic Leukemia: A Case Report

DNAH11 and a Novel Genetic Variant Associated with Situs Inversus: A Case Report and Review of the Literature

Breakthrough CO_2 adsorption in bio-based activated carbons

Passive-specific immunotherapy with monoclonal antibodies for prostate cancer: A systematic review

Evaluation of MicroRNA-125b-5p and Transcription Factors BLIMP1 and IRF4 Expression in Unsolved Common Variable Immunodeficiency Patients

Novel G6PC3 Mutations in Patients with Congenital Neutropenia: Case Reports and Review of the Literature

Enhanced CO2 Adsorption Using MgO-Impregnated Activated Carbon: Impact of Preparation Techniques

Genetics of neonatal diabetes mellitus

Genetic predisposition to cutaneous sarcoidosis

The hyper IgM syndromes: Epidemiology, pathogenesis, clinical manifestations, diagnosis and management

Enhanced CO 2 Adsorption Using MgO-Impregnated Activated Carbon: Impact of Preparation Techniques

Selective CO2 Capture by Activated Carbons: Evaluation of the Effects of Precursors and Pyrolysis Process

Primary immunodeficiency associated with hypopigmentation: A differential diagnosis approach

Effect of Class Switch Recombination Defect on the Phenotype of Ataxia-Telangiectasia Patients

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