Found: 53
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Multiple pilomatricomas with somatic CTNNB1 mutations in children with constitutive mismatch repair deficiency.
- Published in:
- Genes, Chromosomes & Cancer, 2013, v. 52, n. 7, p. 656, doi. 10.1002/gcc.22061
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- Publication type:
- Article
Array CGH analysis in primary gastrointestinal stromal tumors: Cytogenetic profile correlates with anatomic site and tumor aggressiveness, irrespective of mutational status.
- Published in:
- Genes, Chromosomes & Cancer, 2007, v. 46, n. 3, p. 261, doi. 10.1002/gcc.20408
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- Publication type:
- Article
Transient improvement of skin symptoms in an adult patient with pediatric‐onset cutaneous mastocytosis treated with interferon‐α.
- Published in:
- 2018
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- Publication type:
- Case Study
Aortic valve calcium score in hypercholesterolemic patients with and without low-density lipoprotein receptor gene mutation.
- Published in:
- PLoS ONE, 2018, v. 13, n. 12, p. 1, doi. 10.1371/journal.pone.0209229
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- Publication type:
- Article
The genome of Dasychira pudibunda nucleopolyhedrovirus (DapuNPV) reveals novel genetic connection between baculoviruses infecting moths of the Lymantriidae family.
- Published in:
- BMC Genomics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12864-015-1963-9
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- Publication type:
- Article
BUTYRYLCHOLINESTERASE-PROTEINS INTERACTIONS IN HUMAN BLOOD SERUM.
- Published in:
- Military Medical Science Letters / Vojenské zdravotnické Listy, 2018, v. 87, p. 81
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- Publication type:
- Article
Synergy between the alteration in the N-terminal region of butyrylcholinesterase K variant and apolipoprotein E4 in late-onset Alzheimer's disease.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-41578-3
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- Publication type:
- Article
The algorithm for Alzheimer risk assessment based on APOE promoter polymorphisms.
- Published in:
- Alzheimer's Research & Therapy, 2016, v. 8, p. 1, doi. 10.1186/s13195-016-0187-9
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- Publication type:
- Article
Carotid intima-media thickness (IMT) in patients with severe familial and non-familial hypercholesterolemia: The effect of measurement site on the IMT correlation with traditional cardiovascular risk factors and calcium scores.
- Published in:
- Cardiology Journal, 2021, v. 28, n. 2, p. 271, doi. 10.5603/CJ.a2020.0032
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- Publication type:
- Article
Long-term lipoprotein apheresis in the treatment of severe familial hypercholesterolemia refractory to high intensity statin therapy: Three year experience at a lipoprotein apheresis center.
- Published in:
- Cardiology Journal, 2019, v. 26, n. 6, p. 669, doi. 10.5603/CJ.a2018.0100
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- Publication type:
- Article
Novel Tools for Comprehensive Functional Analysis of LDLR (Low-Density Lipoprotein Receptor) Variants.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 14, p. 11435, doi. 10.3390/ijms241411435
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- Publication type:
- Article
Butyrylcholinesterase–Protein Interactions in Human Serum.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 19, p. 10662, doi. 10.3390/ijms221910662
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- Publication type:
- Article
The Role of Butyrylcholinesterase and Iron in the Regulation of Cholinergic Network and Cognitive Dysfunction in Alzheimer's Disease Pathogenesis.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 4, p. 2033, doi. 10.3390/ijms22042033
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- Publication type:
- Article
Diagnosis and treatment of patients with breast cancer and mutation in the BRCA1/2 genes.
- Published in:
- Oncology in Clinical Practice (2450-1654), 2024, v. 20, n. 3, p. 222, doi. 10.5603/OCP.2023.0035
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- Publication type:
- Article
Sotorasib for non-small cell lung cancer -- current options and perspectives.
- Published in:
- Oncology in Clinical Practice (2450-1654), 2024, v. 20, n. 3, p. 215, doi. 10.5603/ocp.97414
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- Publication type:
- Article
Clinical and economic benefits of using next-generation sequencing in the diagnostics of patients with non-small cell lung cancer with rare mutations.
- Published in:
- Oncology in Clinical Practice (2450-1654), 2024, v. 20, n. 3, p. 201, doi. 10.5603/OCP.2023.0044
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- Publication type:
- Article
Expert opinion on adjuvant treatment with osimertinib in patients with non-small cell lung carcinoma after radical tumor resection.
- Published in:
- Oncology in Clinical Practice (2450-1654), 2023, v. 19, n. 4, p. 205, doi. 10.5603/OCP.2023.0018
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- Publication type:
- Article
Microbiome features associated with performance measures in athletic and non-athletic individuals: A case-control study.
- Published in:
- PLoS ONE, 2024, v. 19, n. 2, p. 1, doi. 10.1371/journal.pone.0297858
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- Publication type:
- Article
The Role of TRAF4 and B3GAT1 Gene Expression in the Food Hypersensitivity and Insect Venom Allergy in Mastocytosis.
- Published in:
- Archivum Immunologiae & Therapiae Experimentalis, 2016, v. 64, n. 6, p. 497, doi. 10.1007/s00005-016-0397-7
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- Publication type:
- Article
Differential expression of KIT/PDGFRA mutant isoforms in epithelioid and mixed variants of gastrointestinal stromal tumors depends predominantly on the tumor site.
- Published in:
- Modern Pathology, 2004, v. 17, n. 8, p. 889, doi. 10.1038/modpathol.3800136
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- Publication type:
- Article
Diagnostyka i leczenie heterozygotycznej postaci hipercholesterolemii rodzinnej u dzieci -- doniesienie wstępne.
- Published in:
- Pediatric Endocrinology / Endokrynologia Pediatryczna, 2013, v. 12, n. 3, p. 9
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- Publication type:
- Article
Severe acute toxicity following gemcitabine administration: A report of four cases with cytidine deaminase polymorphisms evaluation.
- Published in:
- Oncology Letters, 2018, v. 15, n. 2, p. 1912, doi. 10.3892/ol.2017.7473
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- Publication type:
- Article
Does the Aberrant Expression of CD2 and CD25 by Skin Mast Cells Truly Correlate with Systemic Involvement in Patients Presenting with Mastocytosis in the Skin?
- Published in:
- International Archives of Allergy & Immunology, 2014, v. 165, n. 2, p. 104, doi. 10.1159/000368799
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- Publication type:
- Article
Molecular characterization of two novel intronic variants of NIPBL gene detected in unrelated Cornelia de Lange syndrome patients.
- Published in:
- 2019
- By:
- Publication type:
- Case Study
An A1166C polymorphism of the angiotensin II AT1 receptor gene does not influence the diagnosis of arterial hypertension during 7 years follow up
- Published in:
- 2005
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- Publication type:
- Abstract
The APPLE Trial: Feasibility and Activity of AZD9291 (Osimertinib) Treatment on Positive PLasma T790M in EGFR-mutant NSCLC Patients. EORTC 1613.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Detection of somatic BRCA1/2 mutations in ovarian cancer - next-generation sequencing analysis of 100 cases.
- Published in:
- Cancer Medicine, 2016, v. 5, n. 7, p. 1640, doi. 10.1002/cam4.748
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- Publication type:
- Article
The molecular profile in patients with polycythemia vera and essential thrombocythemia is dynamic and correlates with disease’s phenotype.
- Published in:
- Frontiers in Oncology, 2023, p. 1, doi. 10.3389/fonc.2023.1224590
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- Publication type:
- Article
A case of mast cell leukaemia with exon 9 KIT mutation and good response to imatinib.
- Published in:
- European Journal of Haematology, 2011, v. 86, n. 6, p. 531, doi. 10.1111/j.1600-0609.2011.01598.x
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- Publication type:
- Article
Butyrylcholinesterase Protein Ends in the Pathogenesis of Alzheimer's Disease—Could BCHE Genotyping Be Helpful in Alzheimer's Therapy?
- Published in:
- Biomolecules (2218-273X), 2019, v. 9, n. 10, p. 592, doi. 10.3390/biom9100592
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- Publication type:
- Article
New Approach to Paediatric Mastocytosis: Implications of KIT D816V Mutation Detection in Peripheral Blood.
- Published in:
- Acta Dermato-Venereologica, 2020, v. 100, n. 5, p. 1, doi. 10.2340/00015555-3504
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- Publication type:
- Article
Diagnosis of Mastocytosis in Children and Adults in Daily Clinical Practice.
- Published in:
- Acta Dermato-Venereologica, 2016, v. 96, n. 3, p. 292, doi. 10.2340/00015555-2210
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- Publication type:
- Article
Risk factors for anaphylaxis in patients with mastocytosis.
- Published in:
- Polish Archives of Internal Medicine, 2015, v. 125, n. 1/2, p. 46
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- Publication type:
- Article
Noninvasive assessment of endothelial function and vascular parameters in patients with familial and nonfamilial hypercholesterolemia.
- Published in:
- Polish Archives of Internal Medicine, 2014, v. 124, n. 10, p. 516, doi. 10.20452/pamw.2458
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- Publication type:
- Article
Impact of Activation of EGFL7 within Microenvironment of High Grade Ovarian Serous Carcinoma on Infiltration of CD4+ and CD8+ Lymphocytes.
- Published in:
- Medicina (1010660X), 2022, v. 58, n. 5, p. 588, doi. 10.3390/medicina58050588
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- Publication type:
- Article
Synchronous bilateral multifocal basal cell adenomas of the parotid gland—a case report.
- Published in:
- BMC Oral Health, 2022, v. 22, n. 1, p. 1, doi. 10.1186/s12903-022-02339-3
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- Publication type:
- Article
The efficacy of EGFR gene mutation testing in various samples from non-small cell lung cancer patients: a multicenter retrospective study.
- Published in:
- Journal of Cancer Research & Clinical Oncology, 2015, v. 141, n. 1, p. 61, doi. 10.1007/s00432-014-1789-x
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- Publication type:
- Article
Secondary chronic myeloid leukemia in a patient with CALR and ASXL1-mutated primary myelofibrosis.
- Published in:
- International Journal of Hematology, 2022, v. 116, n. 3, p. 442, doi. 10.1007/s12185-022-03331-x
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- Publication type:
- Article
Mutations in gastrointestinal stromal tumors – a population-based study from Northern Norway.
- Published in:
- APMIS, 2007, v. 115, n. 4, p. 289, doi. 10.1111/j.1600-0463.2007.apm_587.x
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- Publication type:
- Article
Personalized health risk assessment based on single-cell RNA sequencing analysis of a male with 45, X/48, XYYY karyotype.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-25308-w
- By:
- Publication type:
- Article
Rola mutacji genu KIT w etiopatogenezie mastocytozy u dzieci.
- Published in:
- Dermatology Review / Przeglad Dermatologiczny, 2015, v. 102, n. 1, p. 37, doi. 10.5114/dr.2015.49199
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- Publication type:
- Article
Spectrum and Prevalence of Pathogenic Variants in Ovarian Cancer Susceptibility Genes in a Group of 333 Patients.
- Published in:
- Cancers, 2018, v. 10, n. 11, p. 442, doi. 10.3390/cancers10110442
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- Publication type:
- Article
WHEN DO PAEDIATRIC PATIENTS WITH FAMILIAL HYPERCHOLESTEROLEMIA NEED STATIN THERAPY?
- Published in:
- Developmental Period Medicine, 2017, v. 21, n. 1, p. 43
- By:
- Publication type:
- Article
Concurrent DNA Copy-Number Alterations and Mutations in Genes Related to Maintenance of Genome Stability in Uninvolved Mammary Glandular Tissue from Breast Cancer Patients.
- Published in:
- Human Mutation, 2015, v. 36, n. 11, p. 1088, doi. 10.1002/humu.22845
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- Publication type:
- Article
Expert opinion on adjuvant treatment with osimertinib in patients with non-small cell lung carcinoma after radical tumor resection.
- Published in:
- Nowotwory, 2023, v. 73, n. 3, p. 187, doi. 10.5603/njo.96212
- By:
- Publication type:
- Article
Aortic Wall Thickness as a Surrogate for Subclinical Atherosclerosis in Familial and Nonfamilial Hypercholesterolemia: Quantitative 3D Magnetic Resonance Imaging Study and Interrelations with Computed Tomography Calcium Scores, and Carotid Ultrasonography
- Published in:
- Journal of Clinical Medicine, 2023, v. 12, n. 17, p. 5589, doi. 10.3390/jcm12175589
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- Publication type:
- Article
Monitoring the Effects of Hypolipidemic Treatment in Children with Familial Hypercholesterolemia in Poland.
- Published in:
- Life (2075-1729), 2020, v. 10, n. 11, p. 270, doi. 10.3390/life10110270
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- Publication type:
- Article
Higher Responsiveness to Rosuvastatin in Polygenic versus Monogenic Hypercholesterolemia: A Propensity Score Analysis.
- Published in:
- Life (2075-1729), 2020, v. 10, n. 5, p. 73, doi. 10.3390/life10050073
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- Publication type:
- Article
Mosaic Intronic NIPBL Variant in a Family With Cornelia de Lange Syndrome.
- Published in:
- Frontiers in Genetics, 2018, p. 1, doi. 10.3389/fgene.2018.00255
- By:
- Publication type:
- Article
Zalecenia metodyczne dotyczące oceny mutacji genu EGFR oraz rearanzacji genu ALK w kwaliikacji chorych na niedrobnokomórkowego raka płuca do terapii ukierunkowanych molekularnie.
- Published in:
- Polish Pneumonology & Allergology / Pneumonologia i Alergologia Polska, 2014, v. 82, n. 5, p. 437, doi. 10.5603/PiAP.2014.0057
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- Publication type:
- Article