Works about GENETIC testing
Results: 5000
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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- Article
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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- Article
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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- Article
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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- Article
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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- Article
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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- Article
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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- Article
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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- Article
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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- Article
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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- Article
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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- Article
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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- Article
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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- Article
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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- Article
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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- Article
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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- Article
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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- Article
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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- Article
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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- Article
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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- Article
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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- Article
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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- Article
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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- Article
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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- Article
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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- Article
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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- Article
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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- Article
Clinical and genetic findings in autism spectrum disorders analyzed using exome sequencing.
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- Frontiers in Psychiatry, 2025, p. 1, doi. 10.3389/fpsyt.2025.1515793
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- Article
Cost-Benefit Analysis of Genetic Testing as a Prenatal Diagnostic Tool for Thalassemia: A Single-Center Study From Central Thailand.
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- ClinicoEconomics & Outcomes Research, 2025, v. 17, p. 33, doi. 10.2147/CEOR.S500802
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- Article
Novel CLCNKB Mutation in Two Siblings With Classic Bartter Syndrome.
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- 2025
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- Case Study
Novel MSH6 exon 5–6 skipping variant in a Taiwanese family with Lynch syndrome: implications for genetic testing and cancer management.
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- Molecular Cytogenetics (17558166), 2025, v. 18, n. 1, p. 1, doi. 10.1186/s13039-025-00708-5
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- Article
Genetics, emotion and care: Navigating future reproductive decisions in families of children with rare genetic conditions.
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- Sociology of Health & Illness, 2025, v. 47, n. 2, p. 1, doi. 10.1111/1467-9566.13854
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- Article
Case Report: Familial hypocalciuric hypercalcemia type 1 with a novel mutation combined with Gitelman syndrome and a review of the literature.
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- 2025
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- Case Study
The diagnostic accuracy of preimplantation genetic testing (PGT) in assessing the genetic status of embryos: a systematic review and meta-analysis.
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- Reproductive Biology & Endocrinology, 2025, v. 23, n. 1, p. 1, doi. 10.1186/s12958-025-01376-1
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- Article
Diagnosis and treatment of Fabry disease. Expert Opinion of the Polish Cardiac Society and the Polish Forum for Fabry Disease.
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- Polish Heart Journal / Kardiologia Polska, 2025, v. 83, n. 2, p. 231, doi. 10.33963/v.phj.103915
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- Article
Many faces of Fabry disease: Variable clinical course with typical non-cardiac symptoms and unexpected heart involvement.
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- Polish Heart Journal / Kardiologia Polska, 2025, v. 83, n. 2, p. 207, doi. 10.33963/v.phj.102932
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- Article
Fission yeast Caprin protein is required for efficient heterochromatin establishment.
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- PLoS Genetics, 2025, v. 21, n. 3, p. 1, doi. 10.1371/journal.pgen.1011620
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- Article
LHCGR 基因变异致Ⅱ型间质细胞发育不全1例.
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- Chinese Journal of Contemporary Pediatrics, 2025, v. 27, n. 2, p. 225, doi. 10.7499/j.issn.1008-8830.2410074
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- Article
Visceral myopathy in a newborn mimicking Hirschprung's disease: a case report.
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- 2025
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- Case Study
A Report of the Birth and Death of 4 Infants Affected by Crigler Najjar Disease in an Afghan Migrant Family in Iran.
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- Iraq Medical Journal (IMJ ), 2024, v. 8, n. 4, p. 94, doi. 10.22317/imj.v8i4.1279
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- Article
Genetic Privacy.
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- Indiana Law Journal, 2025, v. 100, n. 2, p. 583
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- Article
Clinical factors that influence chorionic villus sampling sample size.
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- Archives of Gynecology & Obstetrics, 2025, v. 311, n. 2, p. 213, doi. 10.1007/s00404-024-07881-9
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- Article
Precision Medicine: Seeing the Tree in the Forest!
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- Journal of Kidney Cancer & VHL, 2025, v. 12, n. 1, p. 1, doi. 10.15586/jkcvhl.v12i1.395
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- Article
A new approach for the detection of genetic alterations utilizing modified loop-mediated isothermal amplification reaction (LAMP).
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- Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-93086-2
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- Article
Identification of novel COL4A5 variants and prenatal diagnosis in three large families.
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- Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-92649-7
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- Article
Recognising primary ciliary dyskinesia in adult bronchiectasis - insights from the PROGNOSIS study.
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- African Journal of Thoracic & Critcal Care Medicine, 2024, v. 30, n. 4, p. 177
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- Article
Retraction and replacement of: Comparison of Cumulative Live Birth Rates Between Progestin and GnRH Analogues in Preimplantation Genetic Testing Cycles.
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- Journal of Clinical Endocrinology & Metabolism, 2025, v. 110, n. 3, p. e920, doi. 10.1210/clinem/dgae853
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- Article
Congenital Hypopituitarism: Current Agnostic Genetics Faces Its Limits.
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- Journal of Clinical Endocrinology & Metabolism, 2025, v. 110, n. 3, p. e903, doi. 10.1210/clinem/dgae361
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- Article
Prevalence of Dysbetalipoproteinemia in the UK Biobank According to Different Diagnostic Criteria.
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- Journal of Clinical Endocrinology & Metabolism, 2025, v. 110, n. 3, p. e703, doi. 10.1210/clinem/dgae259
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- Article
Prader–Willi Syndrome with Angelman Syndrome in the Offspring.
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- Medicina (1010660X), 2021, v. 57, n. 5, p. 460, doi. 10.3390/medicina57050460
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- Article