Works about GENETIC mutation
Results: 5000
Genetic Counselling and Prenatal Diagnosis in a Case of Harlequin Ichthyosis: A Novel ABCA12 Gene Mutation.
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- Journal of Clinical & Diagnostic Research, 2025, v. 19, n. 2, p. 1, doi. 10.7860/JCDR/2025/74521.20614
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- Article
Sotorasib Combo Bests Chemo Leading to Approval in KRAS G12C+ CRC.
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- Oncology (08909091), 2025, v. 39, n. 2, p. 85
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- Article
Global research dynamics in urea cycle disorders: a bibliometric study highlighting key players and future directions.
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- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03625-3
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- Article
Determinants of COVID-19 cases and deaths in OECD countries.
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- Journal of Public Health: From Theory to Practice (2198-1833), 2024, v. 32, n. 3, p. 473, doi. 10.1007/s10389-023-01820-9
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- Article
Identification and comparison of chromosomal alterations in infertile and fertile males of Tamil Nadu region exposed to cigarette smoking.
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- Journal of Public Health: From Theory to Practice (2198-1833), 2011, v. 19, n. 3, p. 207, doi. 10.1007/s10389-010-0390-2
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- Article
Hypomethylation of GCNT2 isoform A correlates with transcriptional expression and is associated with poor survival in acute myeloid leukemia.
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- Frontiers in Immunology, 2025, p. 1, doi. 10.3389/fimmu.2025.1490330
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- Article
Epigenetic modifications and metabolic gene mutations drive resistance evolution in response to stimulatory antibiotics.
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- Molecular Systems Biology, 2025, v. 21, n. 3, p. 294, doi. 10.1038/s44320-025-00087-4
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- Article
KDM1A genetic alterations, a rare cause of primary bilateral macronodular adrenal hyperplasia, strongly associated with food-dependent Cushing's syndrome: results of its systematic germline screening in 301 index cases and genotype/phenotype correlation.
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- European Journal of Endocrinology, 2025, v. 192, n. 2, p. 119, doi. 10.1093/ejendo/lvaf016
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- Article
A new broom sweeps clean: CLDN16 surpasses the BRAF-V600E mutation as an unrivaled biomarker in papillary thyroid cancer.
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- European Journal of Endocrinology, 2025, v. 192, n. 2, p. 128, doi. 10.1093/ejendo/lvaf003
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- Article
Treatment with 5-MTHF to support the one-carbon cycle can overcome the deleterious impact of a triple SNP mutation in the male partner's MTHFR gene for a couple with a history of repeated miscarriage.
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- 2025
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- Case Study
Myeloid neoplasms with PHF6 mutations: context-dependent genomic and prognostic characterization in 176 informative cases.
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- Blood Cancer Journal, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41408-025-01231-x
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- Article
A case report of a MODY6 patient coexistence with Charcot-Marie-Toothe 1A syndrome.
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- Frontiers in Endocrinology, 2025, p. 1, doi. 10.3389/fendo.2025.1502783
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- Article
The implications of mutations in multiple genes associated with ethambutol resistance among multidrug-resistant tuberculosis isolates from China.
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- BMC Microbiology, 2025, v. 25, n. 1, p. 1, doi. 10.1186/s12866-025-03821-y
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- Article
Rare forms of monogenic diabetes in non-European individuals. First reports of CEL and RFX6 mutations from the Indian subcontinent.
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- Acta Diabetologica, 2025, v. 62, n. 3, p. 323, doi. 10.1007/s00592-024-02357-3
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- Article
Impact of BMPR2 mutation on the severity of pulmonary arterial hypertension: a systematic review and meta-analysis.
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- Respiratory Research, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s12931-025-03145-5
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- Article
Sclerosing mucoepidermoid carcinoma of the thyroid with eosinophilia: a case report and review of the literature.
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- 2025
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- Case Study
Pro-Opiomelanocortin and Melanocortin Receptor 3 and 4 Mutations in Genetic Obesity.
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- Biomolecules (2218-273X), 2025, v. 15, n. 2, p. 209, doi. 10.3390/biom15020209
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- Article
Phylogenetic and Codon Usage Bias Analysis Based on mt-DNA of Cyphochilus crataceus (Coleoptera: Melolonthinae) and Its Neighboring Species.
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- Genes, 2025, v. 16, n. 2, p. 111, doi. 10.3390/genes16020111
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- Article
GAMMA RAY-INDUCED MUTAGENESIS IN FORAGE CROPS: A BIBLIOMETRIC ANALYSIS.
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- JAPS: Journal of Animal & Plant Sciences, 2025, v. 35, n. 1, p. 1
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- Article
Rare genetic disorders and the heightened importance of baseline motor examinations in children and adolescents experiencing a first episode of psychosis.
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- 2025
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- Letter to the Editor
Preliminary Investigation on Resistance of Beckmannia syzigachne to Clodinafop-Propargyl and Mesosulfuron-Methyl from China.
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- Agronomy, 2025, v. 15, n. 2, p. 314, doi. 10.3390/agronomy15020314
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- Article
Advances and Challenges in Modeling Autosomal Dominant Polycystic Kidney Disease: A Focus on Kidney Organoids.
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- Biomedicines, 2025, v. 13, n. 2, p. 523, doi. 10.3390/biomedicines13020523
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- Article
Development of PowerMag System II for Isolation of Circulating Tumor Cells with Improved Purity.
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- Biomedicines, 2025, v. 13, n. 2, p. 431, doi. 10.3390/biomedicines13020431
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- Article
Advances in the Management of Craniopharyngioma: A Narrative Review of Recent Developments and Clinical Strategies.
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- Journal of Clinical Medicine, 2025, v. 14, n. 4, p. 1101, doi. 10.3390/jcm14041101
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- Article
Distribution of different classes of CSF3R mutations and co-mutational pattern in 360 myeloid neoplasia.
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- Annals of Hematology, 2025, v. 104, n. 1, p. 263, doi. 10.1007/s00277-025-06232-1
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- Article
Prognostic impact of TET2 mutations in patients with acute myeloid leukemia: HM-SCREEN-Japan 01 and 02 study.
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- Annals of Hematology, 2025, v. 104, n. 1, p. 275, doi. 10.1007/s00277-025-06227-y
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- Article
Impact of calreticulin mutations on treatment and survival outcomes in myelofibrosis during ruxolitinib therapy.
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- Annals of Hematology, 2025, v. 104, n. 1, p. 241, doi. 10.1007/s00277-025-06204-5
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- Article
Whole exome sequencing analysis of a patient with myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions with ETV6::LYN fusion gene.
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- Annals of Hematology, 2025, v. 104, n. 1, p. 809, doi. 10.1007/s00277-024-06135-7
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- Article
Impact of chromosomal aberrations detected by chromosome banding analysis in symptomatic Waldenström's macroglobulinemia.
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- Annals of Hematology, 2025, v. 104, n. 1, p. 713, doi. 10.1007/s00277-024-06041-y
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- Article
Case report: Low-dose radiation reverses pembrolizumab resistance in melanoma.
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- Frontiers in Oncology, 2025, p. 1, doi. 10.3389/fonc.2025.1483117
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- Article
First Report of Pembrolizumab Activity in KIT-Mutated Thymic Carcinoma.
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- Current Oncology, 2025, v. 32, n. 2, p. 68, doi. 10.3390/curroncol32020068
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- Article
Anti-Spike Monoclonal Antibody Monotherapies and Immune Escape Risk Minimization Strategies.
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- 2025
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- Letter to the Editor
Familial exudative vitreoretinopathy caused by CTNNB1 gene de novo mutation in a Chinese family: a case report.
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- BMC Pediatrics, 2025, v. 25, n. 1, p. 1, doi. 10.1186/s12887-025-05508-9
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- Article
Case report: Hypoparathyroidism-sensorineural hearing loss-renal dysplasia without febrile seizures: a novel mutation in the GATA3 gene.
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- Frontiers in Endocrinology, 2025, p. 1, doi. 10.3389/fendo.2025.1502545
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- Article
Development of heterocyclic-based anticancer agents: A comprehensive review.
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- Heterocyclic Communications, 2025, v. 31, n. 1, p. 1, doi. 10.1515/hc-2022-0179
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- Article
Pigmented Hypertrichosis with Insulin-Dependent Diabetes Mellitus Syndrome: A Case Series.
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- Hormone Research in Paediatrics, 2025, v. 98, n. 1, p. 84, doi. 10.1159/000536019
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- Article
Hepatitis C Virus Resistance-Associated Substitutions in Mexico.
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- Viruses (1999-4915), 2025, v. 17, n. 2, p. 169, doi. 10.3390/v17020169
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- Article
Accumulating Genetic Mutations from Primary to Secondary Biliary Tract Cancers: Analysis of Four Patients With Metachronous Biliary Tract Cancer Using Comprehensive Genomic Profiling.
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- Cancer Genomics & Proteomics (1109-6535), 2025, v. 22, n. 2, p. 346, doi. 10.21873/cgp.20505
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- Article
The Study of Clinical Phenotypes and Analysis of Mutations in L1 Syndrome.
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- Annals of Neurosciences, 2025, v. 32, n. 1, p. 38, doi. 10.1177/09727531231185224
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- Article
Regulation of Mutant Huntingtin Mitochondrial Toxicity by Phosphomimetic Mutations within Its N-Terminal Region.
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- Journal of Neuroscience, 2025, v. 45, n. 8, p. 1, doi. 10.1523/JNEUROSCI.1254-24.2024
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- Article
Genomic and micro-environmental insights into drug resistance in colorectal cancer liver metastases.
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- Discover Oncology, 2025, v. 16, n. 1, p. 1, doi. 10.1007/s12672-025-01976-8
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- Article
In-depth genomic characterisation of SARS-CoV-2 variants from Egypt exhibited heterogeneous lineages.
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- Eastern Mediterranean Health Journal, 2024, v. 30, n. 7, p. 481, doi. 10.26719/2024.30.7.481
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- Article
Retrospective study of the prevalence of acquired drug resistance after failed antiretroviral therapy in Libya.
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- Eastern Mediterranean Health Journal, 2024, v. 30, n. 7, p. 470, doi. 10.26719/2024.30.7.470
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- Article
Observational cohort study of the clinical outcomes associated with B.1.1.7/SGTF among hospitalized COVID-19 patients in Lebanon.
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- Eastern Mediterranean Health Journal, 2023, v. 29, n. 4, p. 262, doi. 10.26719/emhj.23.052
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- Article
Training on SARS-CoV-2 sequencing and molecular phylogenetics for national influenza centres in the Eastern Mediterranean Region.
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- Eastern Mediterranean Health Journal, 2023, v. 29, n. 2, p. 162, doi. 10.26719/2023.29.02.162
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- Article
Performance of risk prediction models in breast cancer screening among women in Cyprus.
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- Eastern Mediterranean Health Journal, 2022, v. 28, n. 12, p. 888, doi. 10.26719/emhj.22.089
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- Article
Knockdown resistance mutations contributing to pyrethroid resistance in Aedes aegypti population, Saudi Arabia.
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- Eastern Mediterranean Health Journal, 2019, v. 25, n. 12, p. 905, doi. 10.26719/emhj.19.081
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- Article
Molecular epidemiology and evolution of A(H1N1) pdm09 and H3N2 viruses in Jordan, 2011-2013.
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- Eastern Mediterranean Health Journal, 2016, v. 22, n. 7, p. 491, doi. 10.26719/2016.22.7.490
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- Article
Genotype characterization of occult hepatitis B virus strains among Egyptian chronic hepatitis C patients.
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- Eastern Mediterranean Health Journal, 2014, v. 20, n. 2, p. 130, doi. 10.26719/2014.20.2.130
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- Article
Status of mismatch repair genes hMSH2 and hMSH6 in colorectal cancer in Saudi patients: an immunohistochemical analysis.
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- Eastern Mediterranean Health Journal, 2012, v. 18, n. 11, p. 1114, doi. 10.26719/2012.18.11.1114
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- Article