Works matching DE "GENETIC testing
Results: 5000
A rare case of acrodysostosis type 2 with PDE4D mutation in a young female: a case report.
- Published in:
- Oxford Medical Case Reports, 2025, v. 2025, n. 1, p. 1, doi. 10.1093/omcr/omae169
- By:
- Publication type:
- Article
Biting off more than you can chew: a rare case of hyperparathyroidism jaw tumour syndrome.
- Published in:
- Oxford Medical Case Reports, 2025, v. 2025, n. 1, p. 1, doi. 10.1093/omcr/omae162
- By:
- Publication type:
- Article
Spectrum analysis of inborn errors of metabolism for expanded newborn screening in Xinjiang, China.
- Published in:
- PeerJ, 2024, p. 1, doi. 10.7717/peerj.18173
- By:
- Publication type:
- Article
Immunolipid magnetic bead-based circulating tumor cell sorting: a novel approach for pathological staging of colorectal cancer.
- Published in:
- Frontiers in Oncology, 2025, p. 1, doi. 10.3389/fonc.2024.1531972
- By:
- Publication type:
- Article
Pharmacogenomic insights: IL-23R and ATG-10 polymorphisms in Sorafenib response for hepatocellular carcinoma.
- Published in:
- Clinical & Experimental Medicine, 2025, v. 25, n. 1, p. 1, doi. 10.1007/s10238-025-01576-4
- By:
- Publication type:
- Article
Genomic analysis of the SMN1 gene region in patients with clinically diagnosed spinal muscular atrophy: a retrospective observational study.
- Published in:
- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03568-9
- By:
- Publication type:
- Article
Accuracy in Pedigree Records in Hair Goats: New Microsatellite Based Paternity Test Panels.
- Published in:
- Journal of Animal Production / Hayvansal Üretim, 2024, v. 65, n. 2, p. 100, doi. 10.29185/hayuretim.1500272
- By:
- Publication type:
- Article
Association between CAPN-10 gene variant and diabetes mellitus in Nigeria: a review.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00655-1
- By:
- Publication type:
- Article
The role of candidate genetic polymorphisms in covid-19 susceptibility and outcomes.
- Published in:
- BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02094-8
- By:
- Publication type:
- Article
Novel CACNA1F pathogenic variant in pediatric incomplete X-linked CSNB: integrating portable ERG and genetic analysis.
- Published in:
- Documenta Ophthalmologica, 2025, v. 150, n. 1, p. 33, doi. 10.1007/s10633-024-09998-3
- By:
- Publication type:
- Article
Knowledge, Awareness, and Perception of Genetic Testing for Hereditary Disorders Among Palestinians: A Cross-Sectional Study.
- Published in:
- Palestinian Medical & Pharmaceutical Journal, 2024, v. 9, n. 3, p. 410, doi. 10.59049/2790-0231.1297
- By:
- Publication type:
- Article
"Images from the Medical Laboratory" – editorial remarks.
- Published in:
- 2025
- By:
- Publication type:
- Editorial
ARV1 p.Gln62Ter, a novel mutation linked to developmental and epileptic encephalopathy-38.
- Published in:
- Journal of Rare Diseases, 2025, v. 4, n. 1, p. 1, doi. 10.1007/s44162-025-00066-1
- By:
- Publication type:
- Article
Hereditary renal mass syndromes: a pictorial review.
- Published in:
- Abdominal Radiology, 2025, v. 50, n. 2, p. 794, doi. 10.1007/s00261-024-04534-y
- By:
- Publication type:
- Article
The cost-effectiveness of germline BRCA testing-guided olaparib treatment in metastatic castration resistant prostate cancer.
- Published in:
- International Journal of Technology Assessment in Health Care, 2024, v. 40, n. 1, p. 1, doi. 10.1017/S0266462324000011
- Publication type:
- Article
Type III pleuropulmonary blastoma: A case report.
- Published in:
- Oncology Letters, 2025, v. 29, n. 3, p. N.PAG, doi. 10.3892/ol.2025.14864
- By:
- Publication type:
- Article
Whole genome sequencing in early onset advanced heart failure.
- Published in:
- Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-88465-8
- By:
- Publication type:
- Article
Keratoconus with two consecutive re-emergences: a case report.
- Published in:
- 2025
- By:
- Publication type:
- Case Study
Ontology-based expansion of virtual gene panels to improve diagnostic efficiency for rare genetic diseases.
- Published in:
- BMC Medical Informatics & Decision Making, 2025, v. 25, n. 1, p. 1, doi. 10.1186/s12911-025-02910-2
- By:
- Publication type:
- Article
Game changer: understanding and managing hypertrophic cardiomyopathy in athletes.
- Published in:
- European Journal of Translational & Clinical Medicine, 2024, v. 7, n. 2, p. 100, doi. 10.31373/ejtcm/191988
- By:
- Publication type:
- Article
SEED ADULTERATION IN AGRICULTURE: CAUSES, IMPACTS AND MITIGATION STRATEGIES.
- Published in:
- Plant Archives (09725210), 2024, v. 24, n. 2, p. 628, doi. 10.51470/PLANTARCHIVES.2024.v24.no.2.088
- By:
- Publication type:
- Article
SMAD5 as a novel gene for familial pulmonary arterial hypertension.
- Published in:
- Clinical Science, 2025, v. 139, n. 1, p. 15, doi. 10.1042/CS20241340
- By:
- Publication type:
- Article
Investigating knowledge and attitudes toward genetic testing and counseling among palestinians.
- Published in:
- Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-024-84733-1
- By:
- Publication type:
- Article
هاپلوتایپ های هموفیلی A در جنوب غربی ایران.
- Published in:
- Iranian South Medical Journal, 2024, v. 27, n. 3, p. 189
- By:
- Publication type:
- Article
Implementing MyChoice® CDx HRD testing for the Nordics: lessons from 2021 to 2023.
- Published in:
- Acta Oncologica, 2024, v. 63, n. 1, p. 70, doi. 10.2340/1651-226X.2024.34139
- By:
- Publication type:
- Article
Hypoglycaemia following physical exercise in a patient with novel SLC16A1 variant.
- Published in:
- European Journal of Endocrinology, 2025, v. 192, n. 1, p. K1, doi. 10.1093/ejendo/lvae159
- By:
- Publication type:
- Article
Unveiling Mysteries in Congenital Diseases: A Case Report of Williams-Beuren Syndrome.
- Published in:
- Cardiovascular Innovations & Applications (CVIA), 2024, v. 9, p. 1, doi. 10.15212/CVIA.2024.0005
- By:
- Publication type:
- Article
Identification of a Novel DSP Variant in a Patient with Sudden Cardiac Death through Post-Mortem Genetic Investigation.
- Published in:
- Cardiovascular Innovations & Applications (CVIA), 2024, v. 9, p. 1, doi. 10.15212/CVIA.2024.0043
- By:
- Publication type:
- Article
Phenotypic variability in sisters with VPS13A disease (chorea-acanthocytosis).
- Published in:
- 2025
- By:
- Publication type:
- Case Study
Diagnosis, screening, and follow-up of patients with familial interstitial lung disease: Results from an international survey.
- Published in:
- BMC Pulmonary Medicine, 2025, v. 25, n. 1, p. 1, doi. 10.1186/s12890-025-03532-0
- By:
- Publication type:
- Article
Perinatal Genetic Screening From the Perspective of India-Born Individuals and Healthcare Providers in Victoria, Australia: A Community-Engaged Grounded Theory Protocol.
- Published in:
- International Journal of Qualitative Methods, 2025, p. 1, doi. 10.1177/16094069251316998
- By:
- Publication type:
- Article
Innovative approaches in colorectal cancer screening: advances in detection methods and the role of artificial intelligence.
- Published in:
- Therapeutic Advances in Gastroenterology, 2025, p. 1, doi. 10.1177/17562848251314829
- By:
- Publication type:
- Article
Reimagining Luck.
- Published in:
- 2025
- By:
- Publication type:
- Opinion
Are the number of nucleolar precursor body and size of pronuclear correlated with embryo development and ploidy status in 1PN zygotes?: an analysis through the time-lapse monitoring and pre-implantation genetic testing.
- Published in:
- Zygote, 2024, v. 32, n. 6, p. 1, doi. 10.1017/S0967199424000431
- Publication type:
- Article
The genetics of pediatric inflammatory bowel disease: Towards precision medicine.
- Published in:
- Biocell, 2025, v. 49, n. 1, p. 149, doi. 10.32604/biocell.2024.057352
- By:
- Publication type:
- Article
Social vulnerability and genetic service utilization among unaffected BRIDGE trial patients with inherited cancer susceptibility.
- Published in:
- BMC Cancer, 2025, v. 25, n. 1, p. 1, doi. 10.1186/s12885-025-13495-4
- By:
- Publication type:
- Article
Adult-Onset Neuronal Ceroid Lipofuscinosis: CLN5 Variant Presenting as Focal Dystonia.
- Published in:
- Tremor & Other Hyperkinetic Movements, 2024, v. 14, n. 1, p. 1, doi. 10.5334/tohm.941
- By:
- Publication type:
- Article
A Case of a Patient With MYH2-Associated Myopathy Presenting With a Chief Complaint of Hand Tremor.
- Published in:
- Tremor & Other Hyperkinetic Movements, 2024, v. 14, n. 1, p. 1, doi. 10.5334/tohm.932
- By:
- Publication type:
- Article
Careful Phenotypic Characterization of Tremor Phenomenology in a Patient with Spinocerebellar Ataxia Type 12-Tremor Features Do Not Match Those of Essential Tremor.
- Published in:
- Tremor & Other Hyperkinetic Movements, 2024, v. 14, n. 1, p. 1, doi. 10.5334/tohm.889
- By:
- Publication type:
- Article
A Novel KCNQ2 Variant in a Patient with a Combined Tremor Syndrome.
- Published in:
- Tremor & Other Hyperkinetic Movements, 2024, v. 14, n. 1, p. 1, doi. 10.5334/tohm.887
- By:
- Publication type:
- Article
The First Case of Huntington's Disease like 2 in Mali, West Africa.
- Published in:
- Tremor & Other Hyperkinetic Movements, 2024, v. 14, n. 1, p. 1, doi. 10.5334/tohm.859
- By:
- Publication type:
- Article
Genetic Testing of Movements Disorders: A Review of Clinical Utility.
- Published in:
- Tremor & Other Hyperkinetic Movements, 2024, v. 14, n. 1, p. 1, doi. 10.5334/tohm.835
- By:
- Publication type:
- Article
High Genetic Diagnostic Yield of Whole Exome Sequencing in Children with Epilepsy and Neurodevelopmental Disorders.
- Published in:
- Fetal & Pediatric Pathology, 2025, v. 44, n. 1, p. 25, doi. 10.1080/15513815.2024.2434919
- By:
- Publication type:
- Article
Role of Genetic Mutations in Periodontitis Patients with Cardiovascular Diseases and Allied Ailments: A Systematic Review and Meta-analysis.
- Published in:
- Journal of Pharmacy & Bioallied Sciences, 2024, v. 16, p. S4327, doi. 10.4103/jpbs.jpbs_1129_24
- By:
- Publication type:
- Article
Utility, benefits, and risks of newborn genetic screening carrier reports for families.
- Published in:
- Journal of Global Health, 2024, v. 14, p. 1, doi. 10.7189/jogh.14.04044
- By:
- Publication type:
- Article
Expanding the genotypic and phenotypic spectrum of EAST/SeSAME syndrome: identification of a novel homozygous mutation (c.194 G > A) in KCNJ10 gene.
- Published in:
- Neurological Sciences, 2025, v. 46, n. 2, p. 911, doi. 10.1007/s10072-024-07834-9
- By:
- Publication type:
- Article
Myotonia may be a sign that prompts genetic testing for myotonic dystrophy type 1.
- Published in:
- European Research Journal, 2025, v. 11, n. 1, p. 74, doi. 10.18621/eurj.1553885
- By:
- Publication type:
- Article
Case Report: Novel ADA2 variants cause atypical adenosine deaminase 2 deficiency.
- Published in:
- Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2024.1478581
- By:
- Publication type:
- Article
Clinical manifestations of Johanson-Blizzard syndrome in a patient with nucleotide variants in the UBR1 gene.
- Published in:
- Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2023, v. 88, n. 10, p. 885, doi. 10.2298/VSP220803003J
- By:
- Publication type:
- Article
The importance of direct genetic testing for determining female carriers of the mutation in dystrophinopathies.
- Published in:
- Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2023, v. 80, n. 3, p. 201, doi. 10.2298/VSP190208030M
- By:
- Publication type:
- Article