Found: 49
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Three-hit hypothesis in astrocytoma: tracing the polymorphism D1853N in ATM gene through a pedigree of the proband affected with primary brain tumor.
- Published in:
- Journal of Cancer Research & Clinical Oncology, 2008, v. 134, n. 11, p. 1173, doi. 10.1007/s00432-008-0404-4
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- Publication type:
- Article
Clinical and genetic analysis of Niemann-Pick disease type C with a novel NPC1 variant.
- Published in:
- Journal of Rare Diseases, 2024, v. 3, n. 1, p. 1, doi. 10.1007/s44162-024-00043-0
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- Publication type:
- Article
Whole exome sequencing revealed a novel dystrophin-related protein-2 (DRP2) deletion in an Iranian family with symptoms of polyneuropathy.
- Published in:
- Iranian Journal of Basic Medical Sciences, 2019, v. 22, n. 5, p. 576, doi. 10.22038/ijbms.2019.30754.7414
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- Publication type:
- Article
Melatonin improves spermatogonial stem cells transplantation efficiency in azoospermic mice.
- Published in:
- Iranian Journal of Basic Medical Sciences, 2014, v. 17, n. 2, p. 93
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- Publication type:
- Article
Effect of Melatonin on the Expression of Apoptotic Genes in Vitrified-thawed Spermatogonia Stem Cells Type A of 6-Day-Old Mice.
- Published in:
- Iranian Journal of Basic Medical Sciences, 2013, v. 16, n. 8, p. 906
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- Publication type:
- Article
A Novel Deleterious MYO15A Gene Mutation Causes Nonsyndromic Hearing Loss.
- Published in:
- Iranian Journal of Otorhinolaryngology, 2024, v. 36, n. 1, p. 355, doi. 10.22038/IJORL.2023.69889.3372
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- Publication type:
- Article
Identification of a Novel WFS1 Mutation Using the Whole Exome Sequencing in an Iranian Pedigree with Autosomal Dominant Hearing Loss.
- Published in:
- Iranian Journal of Otorhinolaryngology, 2021, v. 33, n. 3, p. 173, doi. 10.22038/ijorl.2021.48471.2602
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- Publication type:
- Article
Evaluation of the effect of oral taurine supplementation on fasting levels of fibroblast growth factors, β-Klotho co-receptor, some biochemical indices and body composition in obese women on a weight-loss diet: a study protocol for a double-blind, randomized controlled trial.
- Published in:
- 2019
- By:
- Publication type:
- journal article
A novel infram deletion in MSH6 gene in glioma: Conversation on MSH6 mutations in brain tumors.
- Published in:
- Journal of Cellular Physiology, 2019, v. 234, n. 7, p. 11092, doi. 10.1002/jcp.27759
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- Publication type:
- Article
The antioxidant and anti-inflammatory effects of astaxanthin supplementation on the expression of miR-146a and miR-126 in patients with type 2 diabetes mellitus: A randomised, double-blind, placebo-controlled clinical trial.
- Published in:
- International Journal of Clinical Practice, 2021, v. 75, n. 5, p. 1, doi. 10.1111/ijcp.14022
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- Publication type:
- Article
Study of the Role of siRNA Mediated Promoter Methylation in DNMT3B Knockdown and Alteration of Promoter Methylation of CDH1, GSTP1 Genes in MDA-MB -453 Cell Line.
- Published in:
- Iranian Journal of Pharmaceutical Research, 2017, v. 16, n. 2, p. 768
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- Publication type:
- Article
Identification of a Novel Stop Loss Mutation in P2RX2 Gene in an Iranian Family with Autosomal Nonsyndromic Hearing Loss.
- Published in:
- 2021
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- Publication type:
- journal article
Next-Generation Sequencing Reveals One Novel Missense Mutation in COL1A2 Gene in an Iranian Family with Osteogenesis imperfecta.
- Published in:
- 2017
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- Publication type:
- journal article
A machine learning technology to improve the risk of non-invasive prenatal tests.
- Published in:
- Technology & Health Care, 2022, v. 30, n. 4, p. 951, doi. 10.3233/THC-213628
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- Publication type:
- Article
Usher Syndrome Type 2 in An Iranian Family: A Novel Founder Variation in The USH2A Gene.
- Published in:
- Cell Journal (Yakhteh), 2024, v. 26, n. 6, p. 392, doi. 10.22074/CELLJ.2024.2024223.1521
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- Publication type:
- Article
The pattern of gene copy number alteration (CNAs) in hepatocellular carcinoma: an in silico analysis.
- Published in:
- Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00553-2
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- Publication type:
- Article
Effect of weight-loss diet combined with taurine supplementation on body composition and some biochemical markers in obese women: a randomized clinical trial.
- Published in:
- Amino Acids, 2020, v. 52, n. 8, p. 1115, doi. 10.1007/s00726-020-02876-7
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- Publication type:
- Article
Analysis of DNA Methyltransferase 3A Gene Mutations in Patients with Philadelphia-negative Myeloproliferative Neoplasms.
- Published in:
- Clinical Cancer Investigation Journal, 2017, v. 6, n. 1, p. 81, doi. 10.4103/ccij.ccij_9_17
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- Publication type:
- Article
Identification of Novel PTPRQ and MYO1A Mutations in An Iranian Pedigree with Autosomal Recessive Hearing Loss.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
MicroRNA Expression in β-Thalassemia and Sickle Cell Disease: A Role in The Induction of Fetal Hemoglobin.
- Published in:
- Cell Journal (Yakhteh), 2016, v. 17, n. 4, p. 583
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- Publication type:
- Article
Molecular Aspects of Bone Resorption in β-Thalassemia Major.
- Published in:
- Cell Journal (Yakhteh), 2015, v. 17, n. 2, p. 193
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- Publication type:
- Article
Identification and characterization of NMNAT1 gene mutations in an Iranian patient with Leber congenital amaurosis 9.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Retinitis pigmentosa‐1 due to an RP1 mutation in a consanguineous Iranian family: Report of a novel mutation.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Do NGS‐based techniques represent a first‐line testing in suspected Duchenne muscular dystrophy?
- Published in:
- 2022
- By:
- Publication type:
- Case Study
AHI1 gene mutation in a consanguineous Iranian family affected by Joubert syndrome: A case report.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Joubert syndrome caused by a TMEM67 mutation: Genotype-phenotype analysis.
- Published in:
- Neurology Asia, 2024, v. 29, n. 2, p. 501, doi. 10.54029/2024wir
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- Publication type:
- Article
Homozygous AHI1 gene mutation (c.1213A>C; Thr405Pro) leads to Joubert syndrome in a consanguineous Iranian family: A case report.
- Published in:
- Neurology Asia, 2022, v. 27, n. 2, p. 527, doi. 10.54029/2022anp
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- Publication type:
- Article
Evaluation of mutations in DHCR7 gene in high-risk pregnant women for Smith Lemli Opitz Syndrome during second-trimester screening in Nasiriyah.
- Published in:
- Magazine of Al-Kufa University for Biology, 2022, v. 14, n. 2, p. 43, doi. 10.36320/ajb/v14.i2.11707
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- Publication type:
- Article
FREQUENCY OF GJB2 MUTATIONS IN FAMILIES WITH AUTOSOMAL RECESSIVE NON-SYNDROMIC HEARING LOSS IN KHUZESTAN PROVINCE.
- Published in:
- Genetika (0534-0012), 2018, v. 50, n. 3, p. 837, doi. 10.2298/GENSR1803837T
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- Publication type:
- Article
Telomerase Activity in Human Brain Tumors: Astrocytoma and Meningioma.
- Published in:
- Cellular & Molecular Neurobiology, 2013, v. 33, n. 4, p. 569, doi. 10.1007/s10571-013-9923-x
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- Publication type:
- Article
Does prepubertal testicular tissue vitrification influence spermatogonial stem cells (SSCs) viability?
- Published in:
- Journal of Assisted Reproduction & Genetics, 2013, v. 30, n. 10, p. 1271, doi. 10.1007/s10815-013-0050-x
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- Publication type:
- Article
Exome sequencing revealed a p.G299R mutation in the COMP gene in an Iranian family suffering from pseudoachondroplasia.
- Published in:
- Journal of Gene Medicine, 2019, v. 21, n. 8, p. N.PAG, doi. 10.1002/jgm.3103
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- Publication type:
- Article
Regression Modeling and Meta-Analysis of Diagnostic Accuracy of SNP-Based Pathogenicity Detection Tools for UGT1A1 Gene Mutation.
- Published in:
- Genetics Research International, 2013, p. 1, doi. 10.1155/2013/546909
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- Publication type:
- Article
Designing a multi-epitope candidate vaccine against SARS-CoV-2 through in silico approach for producing in plant systems.
- Published in:
- Studia Universitatis Babeş-Bolyai, Biologia, 2024, v. 69, n. 1, p. 11, doi. 10.24193/subbbiol.2024.1.01
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- Publication type:
- Article
The homozygous pathogenic variant of the POMGNT1 gene identified using whole-exome sequencing in Iranian family with congenital hydrocephalus.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00513-6
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- Publication type:
- Article
A novel missense mutation in PLEKHG5 gene causing an intermediate form of autosomal-recessive Charcot–Marie–Tooth disease in an Iraqi family.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s43042-023-00403-3
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- Publication type:
- Article
Exome sequencing identified a novel Col6α1 mutation in an Iranian patient with Ullrich congenital muscular dystrophy: a case report.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Detection of an FYCO1 nonsense mutation in an affected patient with autosomal recessive cataract (CTRCT18): a case report.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2022, v. 23, p. 1, doi. 10.1186/s43042-022-00272-2
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- Publication type:
- Article
A novel heterozygous TPM2 gene mutation (c.456G>C; p.Lys152Asn) in an Iranian family afected by distal arthrogryposis type 1: a case report.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2022, v. 23, p. 1, doi. 10.1186/s43042-022-00264-2
- By:
- Publication type:
- Article
Exome sequencing identifies a novel GUCY2D mutation in an Iranian family with Leber congenital amaurosis-1: a case report.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Ginger in patients with active ulcerative colitis: a study protocol for a randomized controlled trial.
- Published in:
- 2020
- By:
- Publication type:
- journal article
The Diagnostic Value of Gene Expression of FHL1 in the Differential Diagnosis of Papillary Thyroid Carcinoma and Benign Tumors.
- Published in:
- Journal of Isfahan Medical School, 2014, v. 31, n. 266, p. 1
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- Publication type:
- Article
Identification of a Novel Frameshift Mutation in the TECTA Gene in an Iranian Family With Autosomal Nonsyndromic Hearing Loss.
- Published in:
- Acta Medica Iranica, 2021, v. 59, n. 3, p. 177
- By:
- Publication type:
- Article
Identification and Clinical Implications of a Novel MYO15A Variant in a Consanguineous Iranian Family by Targeted Exome Sequencing.
- Published in:
- 2019
- By:
- Publication type:
- journal article
UGT1A1 Gene Mutation due to Crigler-Najjar Syndrome in Iranian Patients: Identification of a Novel Mutation.
- Published in:
- 2013
- By:
- Publication type:
- Journal Article
Qualitative and quantitative promoter hypermethylation patterns of the P16, TSHR, RASSF1A and RARβ2 genes in papillary thyroid carcinoma.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Importance of ATM gene as a susceptible trait: predisposition role of D1853N polymorphism in breast cancer.
- Published in:
- Medical Oncology, 2011, v. 28, n. 3, p. 733, doi. 10.1007/s12032-010-9525-0
- By:
- Publication type:
- Article
Association of CYP3A4 and CYP3A5 polymorphisms with Iranian breast cancer patients.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2015, v. 16, n. 3, p. 219, doi. 10.1016/j.ejmhg.2015.03.004
- By:
- Publication type:
- Article
A Novel Pathologic Variant in OTOF in an Iranian Family Segregating Hereditary Hearing Loss.
- Published in:
- 2018
- By:
- Publication type:
- journal article