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A Novel Cadherin 23 Variant for Hereditary Hearing Loss Reveals Additional Support for a DFNB12 Nonsyndromic Phenotype of CDH23.
- Published in:
- 2020
- By:
- Publication type:
- journal article
A Novel Pathogenic Variant in the CABP2 Gene Causes Severe Nonsyndromic Hearing Loss in a Consanguineous Iranian Family.
- Published in:
- 2019
- By:
- Publication type:
- journal 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
Homozygosity mapping and direct sequencing identify a novel pathogenic variant in the CISD2 gene in an Iranian Wolfram syndrome family.
- Published in:
- Acta Diabetologica, 2020, v. 57, n. 1, p. 81, doi. 10.1007/s00592-019-01381-y
- By:
- Publication type:
- Article
Predicting deleterious missense genetic variants via integrative supervised nonnegative matrix tri-factorization.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-03230-x
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- Publication type:
- Article
The Importance of SNPs at miRNA Binding Sites as Biomarkers of Gastric and Colorectal Cancers: A Systematic Review.
- Published in:
- Journal of Personalized Medicine, 2022, v. 12, n. 3, p. 456, doi. 10.3390/jpm12030456
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- Publication type:
- Article
A pathogenic variant in the transforming growth factor beta I (TGFBI) in four Iranian extended families segregating granular corneal dystrophy type II: A literature review.
- Published in:
- Iranian Journal of Basic Medical Sciences, 2020, v. 23, n. 8, p. 1020, doi. 10.22038/ijbms.2020.36763.8757
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- Publication type:
- Article
Screening of DFNB3 in Iranian families with autosomal recessive non-syndromic hearing loss reveals a novel pathogenic mutation in the MyTh4 domain of the MYO15A gene in a linked family.
- Published in:
- Iranian Journal of Basic Medical Sciences, 2016, v. 19, n. 7, p. 772
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- Publication type:
- Article
Familial nonmedullary thyroid cancer: a case series in Iranian patients with a meta-review of case series.
- Published in:
- Laboratory Medicine, 2024, v. 55, n. 4, p. 506, doi. 10.1093/labmed/lmad098
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- Publication type:
- Article
Molecular and phenotypical findings of a novel de novo SYNGAP1 gene variant in an 11-year-old Iranian boy with intellectual disability.
- Published in:
- Laboratory Medicine, 2024, v. 55, n. 2, p. 204, doi. 10.1093/labmed/lmad064
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- Publication type:
- Article
A Novel Homozygous Pathogenic Variant in CYP11B1 in a Female Iranian Patient with 11B Hydroxylase Deficiency.
- Published in:
- Laboratory Medicine, 2023, v. 54, n. 4, p. 439, doi. 10.1093/labmed/lmac141
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- Publication type:
- Article
Simplified Protocol for Microsatellite Instability Evaluation in Iranian Patients at Risk for Lynch Syndrome.
- Published in:
- Laboratory Medicine, 2022, v. 53, n. 3, p. 235, doi. 10.1093/labmed/lmab064
- By:
- Publication type:
- Article
Whole-Exome Sequencing Identifies a Recurrent Small In-Frame Deletion in MYO15A Causing Autosomal Recessive Nonsyndromic Hearing Loss in 3 Iranian Pedigrees.
- Published in:
- Laboratory Medicine, 2022, v. 53, n. 2, p. 111, doi. 10.1093/labmed/lmab047
- By:
- Publication type:
- Article
A novel METTL5 variant disrupting a donor splice site leads to primary microcephaly-related intellectual disability in an Iranian family: clinical features and literature review.
- Published in:
- Journal of Genetics, 2023, v. 102, n. 2, p. 1, doi. 10.1007/s12041-023-01441-x
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- Publication type:
- Article
RARS1‐related hypomyelinating leukodystrophy‐9 (HLD‐9) in two distinct Iranian families: Case report and literature review.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 4, p. 1, doi. 10.1002/mgg3.2435
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- Publication type:
- Article
A novel de novo frameshift variant in the CHD2 gene related to intellectual and developmental disability, seizures and speech problems.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2305
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- Publication type:
- Article
A deleterious frameshift insertion mutation in the ZNF142 gene leads to intellectual developmental disorder with impaired speech in three affected siblings: Clinical features and literature review.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2261
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- Publication type:
- Article
X‐linked mental retardation‐hypotonic facies syndrome: Exome sequencing identifies novel clinical characteristics associated with c.5182G>C mutation in the ATRX gene.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 10, p. 1, doi. 10.1002/mgg3.2034
- By:
- Publication type:
- Article
The silencing effect of miR-30a on ITGA4 gene expression in vitro: an approach for gene therapy.
- Published in:
- Research in Pharmaceutical Sciences, 2017, v. 12, n. 6, p. 456, doi. 10.4103/1735-5362.217426
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- Publication type:
- Article
Selection of Optimal Bioinformatic Tools and Proper Reference for Reducing the Alignment Error in Targeted Sequencing Data.
- Published in:
- Journal of Medical Signals & Sensors, 2021, v. 11, n. 1, p. 37, doi. 10.4103/jmss.JMSS_7_20
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- Publication type:
- Article
New molecular insights into the A218V variant impact on the steroidogenic acute regulatory protein (STAR) associated with 46, XY disorders of sexual development.
- Published in:
- Molecular Genetics & Genomics, 2023, v. 298, n. 3, p. 693, doi. 10.1007/s00438-023-02006-4
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- Publication type:
- Article
Griscelli syndrome type 1: a novel pathogenic variant, and review of literature.
- Published in:
- Molecular Genetics & Genomics, 2023, v. 298, n. 2, p. 485, doi. 10.1007/s00438-022-01971-6
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- Publication type:
- Article
Association of P1635 and P1655 polymorphisms in dysbindin ( DTNBP1) gene with schizophrenia.
- Published in:
- Acta Neuropsychiatrica, 2012, v. 24, n. 3, p. 155, doi. 10.1111/j.1601-5215.2011.00598.x
- By:
- Publication type:
- Article
Genetic linkage analysis of DFNB22 in families with autosomal recessive non-syndromic hearing loss in Khuzestan province.
- Published in:
- Journal of Shahrekord University of Medical Sciences, 2019, v. 21, n. 5, p. 200, doi. 10.34172/jsums.2019.35
- By:
- Publication type:
- Article
Lynch-like Syndrome and its Molecular Approaches: A Brief Report and Literature Review.
- Published in:
- Middle East Journal of Cancer, 2023, v. 14, n. 2, p. 300, doi. 10.30476/mejc.2022.92251.1650
- By:
- Publication type:
- Article
New Variants in the CDH1 Gene in Iranian Families with Hereditary Diffuse Gastric Cancer.
- Published in:
- Middle East Journal of Cancer, 2020, v. 11, n. 4, p. 493, doi. 10.30476/mejc.2020.81478.1016
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- Publication type:
- Article
Identification of Xq22.1-23 as a region linked with hereditary recurrent spontaneous abortion in a family.
- Published in:
- Iranian Journal of Reproductive Medicine, 2013, v. 11, n. 8, p. 659
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- Publication type:
- Article
Effect of Oxidized Low Density Lipoprotein on the Expression of Runx2 and SPARC Genes in Vascular Smooth Muscle Cells.
- Published in:
- Iranian Biomedical Journal, 2015, v. 19, n. 3, p. 160
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- Publication type:
- Article
Upregulation of MTOR, RPS6KB1, and EIF4EBP1 in the whole blood samples of Iranian patients with multiple sclerosis compared to healthy controls.
- Published in:
- Metabolic Brain Disease, 2020, v. 35, n. 8, p. 1309, doi. 10.1007/s11011-020-00590-7
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- Publication type:
- Article
Comparison of Real-Time PCR with Disk Diffusion, Agar Screen and E-test Methods for Detection of Methicillin-Resistant Staphylococcus aureus.
- Published in:
- Current Microbiology, 2010, v. 61, n. 6, p. 520, doi. 10.1007/s00284-010-9647-9
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- Publication type:
- Article
BRAF gene mutation in Iranian familial colorectal cancer patients at risk for Lynch syndrome.
- Published in:
- Iranian Journal of Gastroenterology & Hepatology (GOVARESH), 2017, v. 22, n. 3, p. 26
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- Publication type:
- Article
A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family.
- Published in:
- BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-01061-7
- By:
- Publication type:
- Article
Correction to: Clinical and genetic analysis of two wolfram syndrome families with high occurrence of wolfram syndrome and diabetes type II: a case report.
- Published in:
- 2020
- By:
- Publication type:
- Correction Notice
Clinical and genetic analysis of two wolfram syndrome families with high occurrence of wolfram syndrome and diabetes type II: a case report.
- Published in:
- BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-0950-4
- By:
- Publication type:
- Article
Whole exome sequencing identifies novel compound heterozygous pathogenic variants in the MYO15A gene leading to autosomal recessive non-syndromic hearing loss.
- Published in:
- Molecular Biology Reports, 2020, v. 47, n. 7, p. 5355, doi. 10.1007/s11033-020-05618-w
- By:
- Publication type:
- Article
A Versatile Biomimic Nanotemplating Fluidic Assay for Multiplex Quantitative Monitoring of Viral Respiratory Infections and Immune Responses in Saliva and Blood.
- Published in:
- Advanced Science, 2022, v. 9, n. 33, p. 1, doi. 10.1002/advs.202204246
- By:
- Publication type:
- Article
A Homozygous Nonsense Variant in UVSSA Causes UV-sensitive Syndrome from Very Large Kindred: The First Report from Iran.
- Published in:
- Advanced Biomedical Research, 2023, v. 12, p. 1, doi. 10.4103/abr.abr_45_22
- By:
- Publication type:
- Article
BAT25, ACVR2, and TGFBR2 Mononucleotide STR Markers: A Triplex Panel for Microsatellite Instability Testing in Colorectal Tumors.
- Published in:
- Advanced Biomedical Research, 2022, v. 11, n. 9, p. 1, doi. 10.4103/abr.abr_205_21
- By:
- Publication type:
- Article
Bisulfite Treatment of CG-Rich Track of Trinucleotide Repeat Expansion Disorder: Make the Sequence Less CG Rich.
- Published in:
- Advanced Biomedical Research, 2021, p. 1, doi. 10.4103/abr.abr_144_19
- By:
- Publication type:
- Article
WRN Germline Mutation Is the Likely Inherited Etiology of Various Cancer Types in One Iranian Family.
- Published in:
- Frontiers in Oncology, 2021, v. 11, p. 1, doi. 10.3389/fonc.2021.648649
- By:
- Publication type:
- Article
Lack of Association between ESR1 and CYP1A1 Gene Polymorphisms and Susceptibility to Uterine Leiomyoma in Female Patients of Iranian Descent.
- Published in:
- Cell Journal (Yakhteh), 2014, v. 16, n. 2, p. 225
- By:
- Publication type:
- Article
Genetic study of the BRAF gene reveals new variants and high frequency of the V600E mutation among Iranian ameloblastoma patients.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Identification of novel likely pathogenic variant in CDH23 causing non-syndromic hearing loss, and a novel variant in OTOGL in an extended Iranian family.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00578-3
- By:
- Publication type:
- Article
Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform.
- Published in:
- BMC Medical Genomics, 2012, v. 5, n. 1, p. 17, doi. 10.1186/1755-8794-5-17
- By:
- Publication type:
- Article
Engineered zinc‐finger nuclease to generate site‐directed modification in the KLF1 gene for fetal hemoglobin induction.
- Published in:
- Journal of Cellular Biochemistry, 2019, v. 120, n. 5, p. 8438, doi. 10.1002/jcb.28130
- By:
- Publication type:
- Article
Molecular genetic study of glutaric aciduria, type I: Identification of a novel mutation.
- Published in:
- Journal of Cellular Biochemistry, 2019, v. 120, n. 3, p. 3367, doi. 10.1002/jcb.27607
- By:
- Publication type:
- Article
Inducing indel mutation in the <italic>SOX6</italic> gene by zinc finger nuclease for gamma reactivation: An approach towards gene therapy of beta thalassemia.
- Published in:
- Journal of Cellular Biochemistry, 2018, v. 119, n. 3, p. 2512, doi. 10.1002/jcb.26412
- By:
- Publication type:
- Article
The Role of Epigenetics in the Induction of Fetal Hemoglobin: A Combination Therapy Approach.
- Published in:
- International Journal of Hematology-Oncology & Stem Cell Research, 2014, v. 8, n. 1, p. 9
- By:
- Publication type:
- Article
A novel heterozygous truncating variant in the AGO1 gene in an Iranian family with schizophrenia as an unreported symptom.
- Published in:
- Annals of Human Genetics, 2023, v. 87, n. 6, p. 295, doi. 10.1111/ahg.12524
- By:
- Publication type:
- Article
Whole exome sequencing revealed variants in four genes underlying X-linked intellectual disability in four Iranian families: novel deleterious variants and clinical features with the review of literature.
- Published in:
- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01680-y
- By:
- Publication type:
- Article