Works about GENETIC mutation
Results: 5000
Fighting Mutations with Mutations: Evolutionarily Adapting a DNA Aptamer for High‐Affinity Recognition of Mutated Spike Proteins of SARS‐CoV‐2.
- Published in:
- Angewandte Chemie, 2025, v. 137, n. 3, p. 1, doi. 10.1002/ange.202415226
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- Publication type:
- Article
Assessing the impact of mutations and horizontal gene transfer on the antimicrobial resistance and its control: a mathematical model: Assessing the impact of mutations and horizontal gene...: J. P. Romero-Leiton et al.
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- Computational & Applied Mathematics, 2025, v. 44, n. 2, p. 1, doi. 10.1007/s40314-024-03043-4
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- Publication type:
- Article
DNAH9 variants in children with post-infectious bronchiolitis/bronchitis obliterans.
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- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03616-4
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- Publication type:
- Article
Intermittent Antiretroviral Maintenance Therapy in a Real-Life Setting: A Monocentric Retrospective Cohort Study.
- Published in:
- 2025
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- Publication type:
- Letter
Protease-activated receptor-2 (PAR2) mutation attenuates airway fibrosis in mice during the exacerbation of house dust mite‑induced allergic lung disease by multi‑walled carbon nanotubes.
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- Respiratory Research, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s12931-025-03168-y
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- Publication type:
- Article
Pulmonary Adenocarcinoma with Enteric Differentiation without TTF-1 Expression Is a Very Rare Subtype with Limited Treatment Options and Poor Prognosis.
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- Oncology, 2025, v. 103, n. 3, p. 179, doi. 10.1159/000540515
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- Publication type:
- Article
Real world experience with MET inhibitors in MET exon 14 skipping mutated non-small cell lung cancer: largest Indian perspective.
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- Discover Oncology, 2025, v. 16, n. 1, p. 1, doi. 10.1007/s12672-025-01864-1
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- Publication type:
- Article
Multi-gene panel sequencing reveals the relationship between driver gene mutation and clinical characteristics in lung adenocarcinoma.
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- Discover Oncology, 2025, v. 16, n. 1, p. 1, doi. 10.1007/s12672-025-02008-1
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- Publication type:
- Article
Infantile nephrocalcinosis with chronic diarrhea.
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- Pediatric Nephrology, 2025, v. 40, n. 4, p. 951, doi. 10.1007/s00467-024-06614-z
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- Article
Breaking HIV's Defense: New Protein Interaction Discovery Brings Hope.
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- Indian Practitioner, 2025, v. 78, n. 2, p. 8
- Publication type:
- Article
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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- Publication type:
- Article
A novel energy efficient routing technique for SDN-enabled underwater WSNs using free-space optical communication.
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- Journal of Optical Communications, 2024, v. 45, n. 1, p. s777, doi. 10.1515/joc-2022-0204
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- Publication type:
- Article
Sotorasib Combo Bests Chemo Leading to Approval in KRAS G12C+ CRC.
- Published in:
- Oncology (08909091), 2025, v. 39, n. 2, p. 85
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- Publication type:
- Article
Molecular detection of a novel mutation in the TPO gene associated with congenital hypothyroidism in a cat: Case report.
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- Journal of Advanced Veterinary & Animal Research, 2024, v. 11, n. 4, p. 1030, doi. 10.5455/javar.2024.k854
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- Publication type:
- Article
EndoGene database: reported genetic variants for 5,926 Russian patients diagnosed with endocrine disorders.
- Published in:
- Frontiers in Endocrinology, 2025, p. 1, doi. 10.3389/fendo.2025.1472754
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- Publication type:
- Article
Global research dynamics in urea cycle disorders: a bibliometric study highlighting key players and future directions.
- Published in:
- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03625-3
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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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.
- Published in:
- 2025
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- Publication type:
- Case Study
Myeloid neoplasms with PHF6 mutations: context-dependent genomic and prognostic characterization in 176 informative cases.
- Published in:
- Blood Cancer Journal, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41408-025-01231-x
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- Publication type:
- Article
A case report of a MODY6 patient coexistence with Charcot-Marie-Toothe 1A syndrome.
- Published in:
- Frontiers in Endocrinology, 2025, p. 1, doi. 10.3389/fendo.2025.1502783
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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- Article
Sclerosing mucoepidermoid carcinoma of the thyroid with eosinophilia: a case report and review of the literature.
- Published in:
- 2025
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- Publication type:
- Case Study
Pro-Opiomelanocortin and Melanocortin Receptor 3 and 4 Mutations in Genetic Obesity.
- Published in:
- Biomolecules (2218-273X), 2025, v. 15, n. 2, p. 209, doi. 10.3390/biom15020209
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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- Article
Advances and Challenges in Modeling Autosomal Dominant Polycystic Kidney Disease: A Focus on Kidney Organoids.
- Published in:
- Biomedicines, 2025, v. 13, n. 2, p. 523, doi. 10.3390/biomedicines13020523
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- Publication type:
- 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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- Publication type:
- Article
Advances in the Management of Craniopharyngioma: A Narrative Review of Recent Developments and Clinical Strategies.
- Published in:
- Journal of Clinical Medicine, 2025, v. 14, n. 4, p. 1101, doi. 10.3390/jcm14041101
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- Publication type:
- Article
Distribution of different classes of CSF3R mutations and co-mutational pattern in 360 myeloid neoplasia.
- Published in:
- Annals of Hematology, 2025, v. 104, n. 1, p. 263, doi. 10.1007/s00277-025-06232-1
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- Publication type:
- Article
Prognostic impact of TET2 mutations in patients with acute myeloid leukemia: HM-SCREEN-Japan 01 and 02 study.
- Published in:
- Annals of Hematology, 2025, v. 104, n. 1, p. 275, doi. 10.1007/s00277-025-06227-y
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- Publication type:
- Article
Impact of calreticulin mutations on treatment and survival outcomes in myelofibrosis during ruxolitinib therapy.
- Published in:
- Annals of Hematology, 2025, v. 104, n. 1, p. 241, doi. 10.1007/s00277-025-06204-5
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- Publication type:
- Article
Whole exome sequencing analysis of a patient with myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions with ETV6::LYN fusion gene.
- Published in:
- Annals of Hematology, 2025, v. 104, n. 1, p. 809, doi. 10.1007/s00277-024-06135-7
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- Publication type:
- 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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- Publication type:
- Article
Case report: Low-dose radiation reverses pembrolizumab resistance in melanoma.
- Published in:
- Frontiers in Oncology, 2025, p. 1, doi. 10.3389/fonc.2025.1483117
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- Publication type:
- Article
First Report of Pembrolizumab Activity in KIT-Mutated Thymic Carcinoma.
- Published in:
- Current Oncology, 2025, v. 32, n. 2, p. 68, doi. 10.3390/curroncol32020068
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- Publication type:
- Article
Anti-Spike Monoclonal Antibody Monotherapies and Immune Escape Risk Minimization Strategies.
- Published in:
- 2025
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- Publication type:
- Letter to the Editor
Familial exudative vitreoretinopathy caused by CTNNB1 gene de novo mutation in a Chinese family: a case report.
- Published in:
- BMC Pediatrics, 2025, v. 25, n. 1, p. 1, doi. 10.1186/s12887-025-05508-9
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- Publication type:
- Article
Case report: Hypoparathyroidism-sensorineural hearing loss-renal dysplasia without febrile seizures: a novel mutation in the GATA3 gene.
- Published in:
- Frontiers in Endocrinology, 2025, p. 1, doi. 10.3389/fendo.2025.1502545
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- Publication type:
- Article
Development of heterocyclic-based anticancer agents: A comprehensive review.
- Published in:
- Heterocyclic Communications, 2025, v. 31, n. 1, p. 1, doi. 10.1515/hc-2022-0179
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- Publication type:
- 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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- Publication type:
- Article
Treating Hereditary TTR Amyloid Polyneuropathy with Patisiran.
- Published in:
- Neurology Alert, 2025, v. 44, n. 7, p. 1
- Publication type:
- Article