Works matching DE "GENETIC testing
Results: 5000
Novel PKD1 Mutation (c.G10086T) Drives High Intracranial Aneurysm Risk in Autosomal Dominant Polycystic Kidney Disease.
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- European Journal of Neurology, 2025, v. 32, n. 2, p. 1, doi. 10.1111/ene.70086
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Cerebrotendinous xanthomatosis: A complex interplay between a clinically and genetically heterogeneous condition.
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- European Journal of Neurology, 2025, v. 32, n. 1, p. 1, doi. 10.1111/ene.70006
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Genetic and Functional Characterization of DPYD Exon 4 Deletion Common in the Finnish Population.
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- Basic & Clinical Pharmacology & Toxicology, 2025, v. 136, n. 3, p. 1, doi. 10.1111/bcpt.70011
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Modulation of Haemostatic Balance in Combined von Willebrand Disease and Antithrombin Deficiency: A Comprehensive Family Study.
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- Haemophilia, 2025, v. 31, n. 1, p. 140, doi. 10.1111/hae.15147
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Capillary malformation types are a marker of venous malformation severity.
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- Journal of the European Academy of Dermatology & Venereology, 2025, v. 39, n. 3, p. e242, doi. 10.1111/jdv.20242
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Sensorineural Hearing Loss in Patients With the m.1555A>G Mutation in the MTRNR1 Gene.
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- Laryngoscope, 2025, v. 135, n. 2, p. 901, doi. 10.1002/lary.31796
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Clinical profiles and HLA haplotypes in patients with severe cutaneous adverse reactions in Lusaka, Zambia.
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- International Journal of Dermatology, 2025, v. 64, n. 2, p. 432, doi. 10.1111/ijd.17417
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Eccrine syringofibroadenoma as a manifestation of ichthyosis follicularis‐atrichia‐photophobia syndrome‐1.
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- International Journal of Dermatology, 2025, v. 64, n. 2, p. 417, doi. 10.1111/ijd.17383
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Pre-symptomatic scintigraphic and genetic cascade screening in cardiac transthyretin amyloidosis.
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- European Journal of Nuclear Medicine & Molecular Imaging, 2025, v. 52, n. 5, p. 1840, doi. 10.1007/s00259-024-06966-6
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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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Implementation of pre‐emptive testing of a pharmacogenomic panel in clinical practice: Where do we stand?
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- British Journal of Clinical Pharmacology, 2025, v. 91, n. 2, p. 270, doi. 10.1111/bcp.15956
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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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International Forum on Genotyping of Blood Antigens in Donors: Responses.
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- Vox Sanguinis, 2025, v. 120, n. 3, p. 333, doi. 10.1111/vox.13791
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International Forum on Genotyping of Blood Antigens in Donors: Summary.
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- Vox Sanguinis, 2025, v. 120, n. 3, p. 326, doi. 10.1111/vox.13790
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Navigating an Uninformative Genomic Test Result: A Practical Guide.
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- Journal of Paediatrics & Child Health, 2025, v. 61, n. 3, p. 344, doi. 10.1111/jpc.16792
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Ethical concerns in integrating sport-related concussion (SRC) genetic testing into return-to-play (RTP) protocols.
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- Sport, Ethics & Philosophy, 2024, v. 18, n. 3/4, p. 404, doi. 10.1080/17511321.2024.2364773
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Plotting the Past and Future of Hormonal Contraception: A Narrative Public Health Ethics Approach to Centering Patients' Voices in the Pharmacogenomic Era of Birth Control.
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- IJFAB: International Journal of Feminist Approaches to Bioethics, 2024, v. 17, n. 2, p. 1, doi. 10.3138/ijfab.17.2.01
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BREAST CANCER ACTIVISM IN THE UNITED STATES AND THE POLITICS OF GENES.
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- IJFAB: International Journal of Feminist Approaches to Bioethics, 2015, v. 8, n. 1, p. 182, doi. 10.3138/ijfab.8.1.0182
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A Case of Atypical Hemolytic Uremic Syndrome With a Complement Factor I Mutation Triggered by a Femoral Neck Fracture.
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- Nephrology, 2025, v. 30, n. 3, p. 1, doi. 10.1111/nep.70010
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Focusing on Rare Variants Related to Maturity‐Onset Diabetes of the Young in Children.
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- Pediatric Diabetes, 2025, v. 2025, p. 1, doi. 10.1155/pedi/8155443
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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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Genetic counsellors: facilitating the integration of genomics into health care.
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- Medical Journal of Australia, 2025, v. 222, n. 3, p. 114, doi. 10.5694/mja2.52568
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Genetic counsellors: facilitating the integration of genomics into health care.
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- Medical Journal of Australia, 2025, v. 222, n. 2, p. 114, doi. 10.5694/mja2.52568
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Pachyonychia congenita: A father and son with a novel variant in the KRT16 gene.
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- Pediatric Dermatology, 2025, v. 42, n. 1, p. 109, doi. 10.1111/pde.15701
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Genotype–Phenotype Correlation in Progressive External Ophthalmoplegia: Insights From a Retrospective Analysis.
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- Neuropathology & Applied Neurobiology, 2025, v. 51, n. 1, p. 1, doi. 10.1111/nan.70001
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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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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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The Excess of Carriers in Rare Disorders Suggests a Nonpathogenic Effect for Most Variants of Uncertain Significance.
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- Clinical Genetics, 2025, v. 107, n. 3, p. 323, doi. 10.1111/cge.14642
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Mainstreaming Cancer Genomic Testing: A Scoping Review of the Acceptability, Efficacy, and Impact.
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- Clinical Genetics, 2025, v. 107, n. 2, p. 123, doi. 10.1111/cge.14660
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Genetic Analysis of Heterotaxy in a Consanguineous Cohort.
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- Clinical Genetics, 2025, v. 107, n. 2, p. 224, doi. 10.1111/cge.14641
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Diazoxide-unresponsive Hyperinsulinemic Hypoglycaemia in a Preterm Infant with Heterozygous Insulin Receptor Gene Mutation.
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- Journal of Clinical Research in Pediatric Endocrinology, 2025, v. 17, n. 1, p. 115, doi. 10.4274/jcrpe.galenos.2023.2022-12-10
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Pituitary Stalk Interruption Syndrome - clinical Presentation and Management of a Potentially Life-threatening Disease in Newborns.
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- Journal of Clinical Research in Pediatric Endocrinology, 2025, v. 17, n. 1, p. 109, doi. 10.4274/jcrpe.galenos.2023.2023-1-23
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The First Case of 4H Syndrome with Type 1 Diabetes Mellitus.
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- Journal of Clinical Research in Pediatric Endocrinology, 2025, v. 17, n. 1, p. 103, doi. 10.4274/jcrpe.galenos.2023.2023-1-15
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Current practices and challenges in genetic testing and counseling for women with breast and ovarian cancer in Asia.
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- Asia Pacific Journal of Clinical Oncology, 2025, v. 21, n. 2, p. 211, doi. 10.1111/ajco.14074
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Deficiency of Adenosine Deaminase-2 (DADA-2): A Rare Cause of Recurrent Stroke in Young.
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- Journal of Stroke Medicine, 2024, v. 7, n. 2, p. 151, doi. 10.1177/25166085251318425
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Let 'Pregnant Women Choose the Destiny for Themselves and Their Child'. How Fertility Clinic Digital Platforms Frame Preimplantation Genetic Testing (PGT) in Spain.
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- Sociology of Health & Illness, 2025, v. 47, n. 1, p. 1, doi. 10.1111/1467-9566.13876
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Identification of a de novo missense variant in the BRI3BP gene in a Holstein calf with congenital cardiac malformation and carpus valgus.
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- Animal Genetics, 2025, v. 56, n. 1, p. 1, doi. 10.1111/age.13494
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Genetic testing to identify hereditary predispositions to haematological malignancy is critical prior to allogenic haematopoietic cell transplant.
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- British Journal of Haematology, 2025, v. 206, n. 3, p. 1000, doi. 10.1111/bjh.19989
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Service evaluation of R90 bleeding and platelet disorders gene panel in thrombocytopenia cases.
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- British Journal of Haematology, 2025, v. 206, n. 3, p. 930, doi. 10.1111/bjh.19947
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Biochemical screening of glucose‐6‐phosphate dehydrogenase deficiency in borderline cases: Complementary inputs of standardization enzymes and comparison with genetic status.
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- British Journal of Haematology, 2025, v. 206, n. 2, p. 749, doi. 10.1111/bjh.19990
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Blood group genotype matching for transfusion.
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- British Journal of Haematology, 2025, v. 206, n. 1, p. 18, doi. 10.1111/bjh.19664
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Implementation of a National Prenatal Exome Sequencing Service in England: Cost‐Effectiveness Analysis.
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- BJOG: An International Journal of Obstetrics & Gynaecology, 2025, v. 132, n. 4, p. 483, doi. 10.1111/1471-0528.18020
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Health Service Utilization of Black Immigrant Women Residing in the United States: A Systematic Review.
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- Journal of Racial & Ethnic Health Disparities, 2025, v. 12, n. 2, p. 1081, doi. 10.1007/s40615-024-01945-x
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Enlarged Vestibular Aqueduct: Audiological and Vestibular Profiles in Siblings with Genetic Mutations.
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- Indian Journal of Otolaryngology & Head & Neck Surgery, 2025, v. 77, n. 3, p. 1654, doi. 10.1007/s12070-025-05366-y
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Genetics Corner: Mini-Review: Rapid Whole Genome Sequencing (rWGS) and Whole Exome Sequencing (rWGS and rWES) in the NICU--Current Applications, Challenges, and Future Directions.
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- Neonatology Today, 2025, v. 20, n. 2, p. 199
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Shared genetic investigation of asthma and blood eosinophils in relation to chronic rhinosinusitis.
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- Allergy, Asthma & Clinical Immunology, 2025, v. 21, n. 1, p. 1, doi. 10.1186/s13223-025-00956-5
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Association Between Accelerometer-Measured Physical Activity and Mobility Limitations in Twins.
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- Journal of Aging & Physical Activity, 2025, v. 33, n. 2, p. 192, doi. 10.1123/japa.2023-0445
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Study on risk governance of genetic testing and editing technology in China – from the perspective of systems theory.
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- Peking University Law Journal, 2024, v. 12, n. 1, p. 101, doi. 10.1080/20517483.2024.2400792
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Clinical and molecular genetic analysis of cytologically uncertain thyroid nodules in patients with thyroid disease.
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- Biomedical Papers of the Medical Faculty of Palacky University in Olomouc, 2025, v. 169, n. 1, p. 26, doi. 10.5507/bp.2023.048
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Resistance to conventional drug therapy and good response to lomitapide allowed the identification of a novel bi-allelic semi-dominant monogenic HoFH: a case report.
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- Current Medical Research & Opinion, 2025, v. 41, n. 2, p. 209, doi. 10.1080/03007995.2025.2465615
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