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Novel splicing variant and gonadal mosaicism in DYRK1A gene identified by whole-genome sequencing in multiplex autism spectrum disorder families.
- Published in:
- Neurogenetics, 2024, v. 25, n. 4, p. 377, doi. 10.1007/s10048-024-00768-6
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- Publication type:
- Article
The frequency of HIV-1 infection and surveillance drug-resistant mutations determination among Iranians with high-risk behaviors, during 2014 to 2020.
- Published in:
- Iranian Journal of Microbiology, 2021, v. 13, n. 6, p. 878
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- Publication type:
- Article
Kabuki Syndrome: Identification of Two Novel Variants in KMT2D and KDM6A.
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- Molecular Syndromology, 2021, v. 12, n. 2, p. 118, doi. 10.1159/000513199
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- Publication type:
- Article
Neuropsychological consequences of drowning in children.
- Published in:
- Journal of Injury & Violence Research, 2023, v. 15, p. 10
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- Publication type:
- Article
Post-traumatic stress disorder after drowning.
- Published in:
- Journal of Injury & Violence Research, 2022, v. 14, p. 9
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- Publication type:
- Article
The first case of NSHL by direct impression on EYA1 gene and identification of one novel mutation in MYO7A in the Iranian families.
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- Iranian Journal of Basic Medical Sciences, 2018, v. 21, n. 3, p. 333
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- Publication type:
- Article
Association between rs6759298 and Ankylosing Spondylitis in Iranian Population.
- Published in:
- Avicenna Journal of Medical Biotechnology, 2018, v. 10, n. 3, p. 178
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- Publication type:
- Article
Investigation of primary microcephaly in Bushehr province of Iran: novel STIL and ASPM mutations.
- Published in:
- Clinical Genetics, 2013, v. 83, n. 5, p. 488, doi. 10.1111/j.1399-0004.2012.01949.x
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- Publication type:
- Article
Non-Coding RNAs in Cartilage Development: An Updated Review.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 18, p. 4475, doi. 10.3390/ijms20184475
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- Publication type:
- Article
Ecotypic Variations Affected the Biological Effectiveness of Thymus daenensis Celak Essential Oil.
- Published in:
- Evidence-based Complementary & Alternative Medicine (eCAM), 2021, p. 1, doi. 10.1155/2021/6686558
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- Publication type:
- Article
The genetic landscape and possible therapeutics of neurofibromatosis type 2.
- Published in:
- Cancer Cell International, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12935-023-02940-8
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- Publication type:
- Article
Hsa-miR-194-5p and hsa-miR-195-5p are down-regulated expressed in high dysplasia HPV-positive Pap smear samples compared to normal cytology HPV-positive Pap smear samples.
- Published in:
- BMC Infectious Diseases, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12879-023-08942-1
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- Publication type:
- Article
Whole-exome sequencing identifies R1279X of MYH6 gene to be associated with congenital heart disease.
- Published in:
- 2018
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- Publication type:
- journal article
Cut-off value of 1-h, 50-g glucose challenge test for screening of gestational diabetes mellitus in an Iranian population.
- Published in:
- Journal of Obstetrics & Gynaecology Research, 2011, v. 37, n. 6, p. 534, doi. 10.1111/j.1447-0756.2010.01400.x
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- Publication type:
- Article
Occult HCV and occult HBV coinfection in Iranian human immunodeficiency virus‐infected individuals.
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- Journal of Medical Virology, 2020, v. 92, n. 12, p. 3354, doi. 10.1002/jmv.25808
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- Publication type:
- Article
Evaluation of CCR5‐Δ32 mutation among individuals with high risk behaviors, neonates born to HIV‐1 infected mothers, HIV‐1 infected individuals, and healthy people in an Iranian population.
- Published in:
- Journal of Medical Virology, 2020, v. 92, n. 8, p. 1158, doi. 10.1002/jmv.25658
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- Publication type:
- Article
Presence of different hepatitis C virus genotypes in plasma and peripheral blood mononuclear cell samples of Iranian patients with HIV infection.
- Published in:
- Journal of Medical Virology, 2018, v. 90, n. 8, p. 1343, doi. 10.1002/jmv.24925
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- Publication type:
- Article
The Effect of Linoleic Acid and Nanoparticle Treatments as Inducers on Biomass and Fatty Acid Content in the Microalga, Haematococcus lacustris.
- Published in:
- Plant, Algae & Environment / Journal of Phycological Research, 2022, v. 6, n. 1, p. 843
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- Publication type:
- Article
Homozygous TREM2 c.549del; p.(Leu184Serfs*5) variant causing Nasu‐Hakola disease in three siblings in a consanguineous Iraqi family: Case report and review of literature.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 6, p. 1, doi. 10.1002/mgg3.2476
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- Publication type:
- Article
Whole‐exome sequencing identified first homozygous frameshift variant in the COLEC10 gene in an Iranian patient causing 3MC syndrome type 3.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1834
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- Publication type:
- Article
Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 12, p. 1, doi. 10.1002/mgg3.1550
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- Publication type:
- Article
A homozygote variant in the tRNA splicing endonuclease subunit 54 causes pontocerebellar hypoplasia in a consanguineous Iranian family.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 10, p. 1, doi. 10.1002/mgg3.1413
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- Publication type:
- Article
Three Novel Variants identified in FBN1 and TGFBR2 in seven Iranian families with suspected Marfan syndrome.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 8, p. 1, doi. 10.1002/mgg3.1274
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- Publication type:
- Article
Whole‐exome sequencing identified a novel variant in an Iranian patient affected by pycnodysostosis.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 3, p. 1, doi. 10.1002/mgg3.1118
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- Publication type:
- Article
Biomarker discovery by imperialist competitive algorithm in mass spectrometry data for ovarian cancer prediction.
- Published in:
- Journal of Medical Signals & Sensors, 2021, v. 11, n. 2, p. 108, doi. 10.4103/jmss.JMSS_20_20
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- Publication type:
- Article
Improving Classification of Cancer and Mining Biomarkers from Gene Expression Profiles Using Hybrid Optimization Algorithms and Fuzzy Support Vector Machine.
- Published in:
- Journal of Medical Signals & Sensors, 2018, v. 8, n. 1, p. 1
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- Publication type:
- Article
Evaluation of selective screening for diagnosis of gestational diabetes mellitus.
- Published in:
- Tehran University Medical Journal, 2009, v. 67, n. 4, p. 290
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- Publication type:
- Article
Leukoencephalopathy in Al‐Raqad syndrome: Expanding the clinical and neuroimaging features caused by a biallelic novel missense variant in DCPS.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2391, doi. 10.1002/ajmg.a.61776
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- Publication type:
- Article
A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1915, doi. 10.1002/ajmg.a.36030
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- Publication type:
- Article
An iterative approach to solve a nonlinear moving boundary problem describing the solvent diffusion within glassy polymers.
- Published in:
- Mathematical Methods in the Applied Sciences, 2020, v. 43, n. 6, p. 3754, doi. 10.1002/mma.6153
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- Publication type:
- Article
Detection of Toxoplasma gondii bradyzoite genes in the peripheral blood mononuclear cells among patients with toxoplasmic chorioretinitis.
- Published in:
- Transactions of the Royal Society of Tropical Medicine & Hygiene, 2021, v. 115, n. 12, p. 1389, doi. 10.1093/trstmh/trab062
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- Publication type:
- Article
Novel manifestations of Warburg micro syndrome type 1 caused by a new splicing variant of RAB3GAP1: a case report.
- Published in:
- 2021
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- Publication type:
- journal article
Novel imaging and clinical phenotypes of CONDSIAS disorder caused by a homozygous frameshift variant of ADPRHL2: a case report.
- Published in:
- 2020
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- Publication type:
- journal article
Internal exposure monitoring of 131I radiopharmaceutical production workers in Iran.
- Published in:
- Radiation Protection Dosimetry, 2003, v. 104, n. 2, p. 173, doi. 10.1093/oxfordjournals.rpd.a006178
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- Publication type:
- Article
Body potassium content and 40K radiation dose to Iranian subjects.
- Published in:
- Radiation Protection Dosimetry, 2003, v. 104, n. 3, p. 259, doi. 10.1093/oxfordjournals.rpd.a006190
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- Publication type:
- Article
The oncogenic and tumor suppressive roles of RNA‐binding proteins in human cancers.
- Published in:
- Journal of Cellular Physiology, 2021, v. 236, n. 9, p. 6200, doi. 10.1002/jcp.30311
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- Publication type:
- Article
Resistance mechanisms to immune checkpoints blockade by monoclonal antibody drugs in cancer immunotherapy: Focus on myeloma.
- Published in:
- Journal of Cellular Physiology, 2021, v. 236, n. 2, p. 791, doi. 10.1002/jcp.29905
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- Publication type:
- Article
Identification of a novel MICU1 nonsense variant causes myopathy with extrapyramidal signs in an Iranian consanguineous family.
- Published in:
- Molecular & Cellular Pediatrics, 2021, v. 8, n. 1, p. 1, doi. 10.1186/s40348-021-00116-w
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- Publication type:
- Article
Biomarker Discovery Based on Hybrid Optimization Algorithm and Artificial Neural Networks on Microarray Data for Cancer Classification.
- Published in:
- Journal of Medical Signals & Sensors, 2015, v. 5, n. 2, p. 88
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- Publication type:
- Article
Impact of Opium Addiction on Levels of Pro- and Anti-inflammatory Cytokines after Surgery.
- Published in:
- Addiction & Health, 2016, v. 8, n. 1, p. 1
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- Publication type:
- Article
Somatic Mutation Profiles of MSI and MSS Colorectal Cancer Identified by Whole Exome Next Generation Sequencing and Bioinformatics Analysis.
- Published in:
- PLoS ONE, 2010, v. 5, n. 12, p. 1, doi. 10.1371/journal.pone.0015661
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- Publication type:
- Article
Establishment of a Mouse Model with Misregulated Chromosome Condensation due to Defective Mcph1 Function.
- Published in:
- PLoS ONE, 2010, v. 5, n. 2, p. 1, doi. 10.1371/journal.pone.0009242
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- Publication type:
- Article
New criteria for gestational diabetes in Tehran, Iran.
- Published in:
- Iranian Journal of Reproductive Medicine, 2012, v. 10, n. 3, p. 237
- By:
- Publication type:
- Article
Identification of a Novel Splice Site Mutation in RUNX2 Gene in a Family with Rare Autosomal Dominant Cleidocranial Dysplasia.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Identification and characterization of metallo-β-lactamases producing Pseudomonas aeruginosa clinical isolates in University Hospital from Zanjan Province, Iran.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Identification and Characterization of Metallo-β-Lactamases Producing Pseudomonas aeruginosa Clinical Isolates in University Hospital from Zanjan Province, Iran.
- Published in:
- Iranian Biomedical Journal, 2013, v. 17, n. 3, p. 129, doi. 10.6091/ibj.1107.2013
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- Publication type:
- Article
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies in a consanguineous Iranian family is associated with a homozygous start loss variant in the PRUNE1 gene.
- Published in:
- BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01228-6
- By:
- Publication type:
- Article
The effect of exercise on the intensity of low back pain in pregnant women
- Published in:
- 2005
- By:
- Publication type:
- journal article
Beta-human chorionic gonadotropin in cervicovaginal secretions and preterm delivery
- Published in:
- 2004
- By:
- Publication type:
- journal article
RNASET2-deficient leukoencephalopathy mimicking congenital CMV infection and Aicardi-Goutieres syndrome: a case report with a novel pathogenic variant.
- Published in:
- 2019
- By:
- Publication type:
- Case Study