Works matching DE "NUCLEOTIDE sequencing"
Results: 5000
B Cell Receptor Repertoire Analysis of the CD21<sup>lo</sup> B Cell Compartment in Healthy Individuals, Patients With Sjögren's Disease, and Patients With Radiographic Axial Spondyloarthritis.
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- European Journal of Immunology, 2025, v. 55, n. 2, p. 1, doi. 10.1002/eji.202451398
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Monitoring Fish Bacterial Pathogens of Wild Fish Species From the South China Sea by Applying Next‐Generation Sequencing on Gill Tissue.
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- Journal of Fish Diseases, 2025, v. 48, n. 2, p. 1, doi. 10.1111/jfd.14050
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TCR Repertoire Analysis During Therapeutic Interventions in Liver Diseases Using Next‐Generation Sequencing.
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- Journal of Gastroenterology & Hepatology, 2025, v. 40, n. 2, p. 537, doi. 10.1111/jgh.16835
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Myotilin gene duplication causing late‐onset myotilinopathy.
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- European Journal of Neurology, 2025, v. 32, n. 1, p. 1, doi. 10.1111/ene.70029
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Subareolar sclerosing ductal hyperplasia shows PI3K pathway alterations.
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- Histopathology, 2025, v. 86, n. 5, p. 824, doi. 10.1111/his.15416
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Adenocarcinoma of the rete testis: clinicopathological study of 18 cases with emphasis on MET amplification and a review of the literature.
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- Histopathology, 2025, v. 86, n. 5, p. 762, doi. 10.1111/his.15383
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Targeted RNA sequencing in diagnostically challenging head and neck carcinomas identifies novel MON2::STAT6, NFATC2::NUTM2B, POC5::RAF1, and NSD3::NCOA2 gene fusions.
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- Histopathology, 2025, v. 86, n. 5, p. 728, doi. 10.1111/his.15380
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Initiation of molecular testing of endometrial carcinomas in a population‐based setting: practical considerations and pitfalls.
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- Histopathology, 2025, v. 86, n. 4, p. 611, doi. 10.1111/his.15365
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HMGA2‐positive salivary gland neoplasms with prominent trabecular/canalicular morphology: a focus on carcinomas arising within this phenotype.
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- Histopathology, 2025, v. 86, n. 3, p. 385, doi. 10.1111/his.15334
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Genetic Analysis and Reproductive Interventions for Two Rare Families Affected by Severe Haemophilia A.
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- Haemophilia, 2025, v. 31, n. 1, p. 148, doi. 10.1111/hae.15140
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Acceptability and somatic mutations in cervicovaginal self‐sampling for early endometrial cancer detection in women with Lynch syndrome.
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- International Journal of Cancer, 2025, v. 156, n. 9, p. 1791, doi. 10.1002/ijc.35368
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Multiple DNA Viruses and HPV Integration in Inverted Papilloma and Associated Sinonasal Carcinoma.
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- Laryngoscope, 2025, v. 135, n. 2, p. 677, doi. 10.1002/lary.31714
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Integrative single‐cell RNA‐seq and ATAC‐seq analysis of the evolutionary trajectory features of adipose‐derived stem cells induced into astrocytes.
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- Journal of Neurochemistry, 2025, v. 169, n. 1, p. 1, doi. 10.1111/jnc.16269
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Cost Effectiveness of Exclusionary EGFR Testing for Taiwanese Patients Newly Diagnosed with Advanced Lung Adenocarcinoma: CEA of Exclusionary EGFR Testing: H.-T. Ou et al.
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- PharmacoEconomics, 2025, v. 43, n. 4, p. 429, doi. 10.1007/s40273-024-01462-z
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Unraveling the genetic basis of resistance traits for fungal diseases in sorghum.
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- Phytopathology Research, 2025, v. 7, n. 1, p. 1, doi. 10.1186/s42483-024-00309-x
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Pharmacogenomics in 2023: Big studies, big results, big implications, big responsibilities: Editorial.
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- British Journal of Clinical Pharmacology, 2025, v. 91, n. 2, p. 249, doi. 10.1111/bcp.16351
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Translating pharmacogenomic sequencing data into drug response predictions—How to interpret variants of unknown significance.
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- British Journal of Clinical Pharmacology, 2025, v. 91, n. 2, p. 252, doi. 10.1111/bcp.15915
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Whole exome sequencing enhances diagnosis of hereditary bronchiectasis.
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- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03661-z
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Changing landscapes and increasing relevance of immunotherapy in localized MSI-H gastric adenocarcinoma.
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- Expert Review of Clinical Pharmacology, 2024, v. 17, n. 12, p. 1093, doi. 10.1080/17512433.2024.2438178
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Next-generation sequencing in pharmacogenomics – fit for clinical decision support?
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- Expert Review of Clinical Pharmacology, 2024, v. 17, n. 3, p. 213, doi. 10.1080/17512433.2024.2307418
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The characteristics of T‐cell receptor repertoire in relation to systemic immune response of patients with ischemic stroke.
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- Journal of Neurochemistry, 2025, v. 169, n. 2, p. 1, doi. 10.1111/jnc.16246
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Bringing back the dead: Genetic data from avian carcasses.
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- Wildlife Society Bulletin (2328-5540), 2017, v. 41, n. 4, p. 796, doi. 10.1002/wsb.823
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Aleukemic variant of T-cell large granular lymphocyte leukemia in patients with rheumatoid arthritis - diagnostically challenging subtype.
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- Expert Review of Clinical Immunology, 2024, v. 20, n. 11, p. 1323, doi. 10.1080/1744666X.2024.2384057
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Targeted therapies in advanced biliary malignancies: a clinical review.
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- Expert Review of Anticancer Therapy, 2024, v. 24, n. 9, p. 869, doi. 10.1080/14737140.2024.2387612
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Efficacy of third-generation epidermal growth factor receptor-tyrosine kinase inhibitors in advanced NSCLC with different T790M statuses tested via digital droplet polymerase chain reaction ddPCR and next-generation sequencing.
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- Expert Review of Anticancer Therapy, 2024, v. 24, n. 3/4, p. 183, doi. 10.1080/14737140.2024.2334807
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Sandstone Conservation of Polish Tomb Chapel and Its Effect on Microbial Diversity.
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- International Journal of Architectural Heritage: Conservation, Analysis & Restoration, 2024, v. 18, n. 6, p. 1023, doi. 10.1080/15583058.2023.2203098
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番茄愈伤组织的诱导与遗传转化体系的建立.
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- Journal of Shandong University of Technology (Natural Science Edition), 2025, n. 1, p. 73
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Phenotypic and genotyping spectrum of two Iranian cases with RBCK1‐associated polyglucosan body myopathy.
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- Neuropathology, 2025, v. 45, n. 1, p. 48, doi. 10.1111/neup.12993
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Superior Resolution Profiling of the Coleofasciculus Microbiome by Amplicon Sequencing of the Complete 16S rRNA Gene and ITS Region.
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- Environmental Microbiology Reports, 2025, v. 17, n. 1, p. 1, doi. 10.1111/1758-2229.70066
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Isolation of Acanthamoeba Species and Bacterial Symbiont Variability in Puna Salt Plains, Argentina.
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- Environmental Microbiology Reports, 2025, v. 17, n. 1, p. 1, doi. 10.1111/1758-2229.70059
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Clonal dynamics of chronic myelomonocytic leukemia progression: paired‐sample comparison.
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- Journal of Pathology, 2025, v. 265, n. 4, p. 437, doi. 10.1002/path.6396
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Biallelic Variant in the AGXT Gene in a Family Segregating Primary Hyperoxaluria; Accurate Genetic Diagnosis and Carrier Detection.
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- Nephrology, 2025, v. 30, n. 1, p. 1, doi. 10.1111/nep.14423
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Biallelic Variants in LRRC45 Impair Ciliogenesis and Cause a Severe Neurological Disorder.
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- Clinical Genetics, 2025, v. 107, n. 3, p. 311, doi. 10.1111/cge.14663
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Comprehensive Analysis of TEK Variants in Patients With Vascular Malformations.
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- Clinical Genetics, 2025, v. 107, n. 4, p. 458, doi. 10.1111/cge.14667
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SNV/Indel and CNV Analysis in Trio‐WES for Intellectual and Developmental Disabilities: Diagnostic Yield & Cost‐Effectiveness.
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- Clinical Genetics, 2025, v. 107, n. 4, p. 402, doi. 10.1111/cge.14677
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Unveiling New Clinical and Genetic Insights in Ultra‐Rare Intellectual Disability Phenotypes: A Study of a Turkish Cohort.
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- Clinical Genetics, 2025, v. 107, n. 4, p. 373, doi. 10.1111/cge.14669
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Unraveling the Genetic Basis of Congenital Limb Anomalies in Eight Families.
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- Clinical Genetics, 2025, v. 107, n. 4, p. 463, doi. 10.1111/cge.14668
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A Novel Homozygous Synonymous Variant in CCDC134 as a Cause of Osteogenesis Imperfecta Type XXII.
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- Clinical Genetics, 2025, v. 107, n. 4, p. 446, doi. 10.1111/cge.14664
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Ataxia With Vitamin E Deficiency: Case Series, Vitamin E Therapy Response, Founder Effect, and In Silico Analysis.
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- Clinical Genetics, 2025, v. 107, n. 3, p. 366, doi. 10.1111/cge.14658
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Deciphering the Genetic and Epidemiological Landscape of Inherited Retinal Diseases (IRDs) in a Cohort of Eastern Iranian Patients.
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- Clinical Genetics, 2025, v. 107, n. 3, p. 300, doi. 10.1111/cge.14662
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Mobile Element Insertion in the APOB Exon 3 Coding Sequence: A New Challenge in Hypobetalipoproteinemia Diagnosis.
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- Clinical Genetics, 2025, v. 107, n. 3, p. 359, doi. 10.1111/cge.14655
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Diagnostic Use of Genome Sequencing in Patients With 11p15.5 Imprinting Disorder Features: A Pilot Study.
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- Clinical Genetics, 2025, v. 107, n. 3, p. 278, doi. 10.1111/cge.14649
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A Frameshift Variant in ANKRD24 Implicates Its Role in Human Non‐Syndromic Hearing Loss.
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- Clinical Genetics, 2025, v. 107, n. 2, p. 214, doi. 10.1111/cge.14635
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A Novel PTPRQ c.3697del Variant Causes Autosomal Dominant Progressive Hearing Loss in Both Humans and Mice.
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- Clinical Genetics, 2025, v. 107, n. 2, p. 208, doi. 10.1111/cge.14634
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PathVar: A Customisable NGS Variant Calling Algorithm Implicates Novel Candidate Genes and Pathways in Hemiplegic Migraine.
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- Clinical Genetics, 2025, v. 107, n. 2, p. 157, doi. 10.1111/cge.14625
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ME2 Deficiency Is Associated With Recessive Neurodevelopmental Disorder.
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- Clinical Genetics, 2025, v. 107, n. 2, p. 201, doi. 10.1111/cge.14632
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Germline Variants in Patients Affected by Both Uveal and Cutaneous Melanoma.
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- Pigment Cell & Melanoma Research, 2025, v. 38, n. 1, p. 1, doi. 10.1111/pcmr.13199
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Pathogenic Germline Variants in Uveal Melanoma Driver and BAP1‐Associated Genes in Finnish Patients with Uveal Melanoma.
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- Pigment Cell & Melanoma Research, 2025, v. 38, n. 1, p. 1, doi. 10.1111/pcmr.13198
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Characterization and Confirmation of Mildly Unstable Hb Pontoise or α1 63(E12) Ala > Asp and Literature Review.
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- Hemoglobin, 2025, v. 49, n. 1, p. 26, doi. 10.1080/03630269.2025.2451411
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Identification of a β-Globin Gene Mutation with the Genotype β-28(A > G), IVS-I-5(G > A)/βCD 71/72(+A) Using Third-Generation Sequencing.
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- Hemoglobin, 2025, v. 49, n. 1, p. 63, doi. 10.1080/03630269.2024.2446371
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