Works matching DE "MEDICAL genomics"
Results: 479
Targeting malignant adenomyoepithelioma of the breast: clinical insights on multimodal therapy and disease-free survival.
- Published in:
- Discover Oncology, 2025, v. 16, n. 1, p. 1, doi. 10.1007/s12672-025-02120-2
- By:
- Publication type:
- Article
Implementation of a National Prenatal Exome Sequencing Service in England: Cost‐Effectiveness Analysis.
- Published in:
- BJOG: An International Journal of Obstetrics & Gynaecology, 2025, v. 132, n. 4, p. 483, doi. 10.1111/1471-0528.18020
- By:
- Publication type:
- Article
Unraveling a novel FBN1 variant in Marfan syndrome with dilated aortic root manifestation.
- Published in:
- BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02111-w
- By:
- Publication type:
- Article
Correction: whole exome sequencing revealed variants in four genes underlying X-linked intellectual disability in four Iranian families: novel deleterious variants and clinical features with the review of literature.
- Published in:
- 2025
- By:
- Publication type:
- Correction Notice
Interpreting the actionable clinical role of rare variants associated with short QT syndrome.
- Published in:
- Human Genetics, 2024, v. 143, n. 12, p. 1499, doi. 10.1007/s00439-024-02713-x
- By:
- Publication type:
- Article
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.
- Published in:
- Human Genetics, 2023, v. 142, n. 6, p. 785, doi. 10.1007/s00439-023-02547-z
- By:
- Publication type:
- Article
Uterine fibroid polygenic risk score (PRS) associates and predicts risk for uterine fibroid.
- Published in:
- Human Genetics, 2022, v. 141, n. 11, p. 1739, doi. 10.1007/s00439-022-02442-z
- By:
- Publication type:
- Article
Clinical impact of rare variants associated with inherited channelopathies: a 5-year update.
- Published in:
- Human Genetics, 2022, v. 141, n. 10, p. 1579, doi. 10.1007/s00439-021-02370-4
- By:
- Publication type:
- Article
Disclosure of secondary findings in exome sequencing of 2480 Japanese cancer patients.
- Published in:
- Human Genetics, 2021, v. 140, n. 2, p. 321, doi. 10.1007/s00439-020-02207-6
- By:
- Publication type:
- Article
Genomic Research Advances Pancreatic Cancer's Early Detection and Treatment.
- Published in:
- JNCI: Journal of the National Cancer Institute, 2015, v. 107, n. 7, p. 5, doi. 10.1093/jnci/djv195
- By:
- Publication type:
- Article
NCI-MATCH Launch Highlights New Trial Design in Precision-Medicine Era.
- Published in:
- JNCI: Journal of the National Cancer Institute, 2015, v. 107, n. 7, p. 4, doi. 10.1093/jnci/djv193
- By:
- Publication type:
- Article
Genomically Guided Cancer Treatments: From "Promising" to "Clinically Useful".
- Published in:
- 2015
- By:
- Publication type:
- Editorial
Spinocerebellar ataxia type 48: last but not least.
- Published in:
- 2021
- By:
- Publication type:
- Letter
Atypical Mucin Expression Predicts Worse Overall Survival in Resectable Pancreatic Ductal Adenocarcinoma.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Advancing Genomics for Drug Development and Safety Evaluation.
- Published in:
- 2018
- By:
- Publication type:
- Editorial
Arab gene geography: From population diversities to personalized medical genomics.
- Published in:
- Global Cardiology Science & Practice, 2014, v. 2014, n. 4, p. 238, doi. 10.5339/gcsp.2014.54
- By:
- Publication type:
- Article
Three Grand Challenges in High Throughput Omics Technologies.
- Published in:
- Biomolecules (2218-273X), 2022, v. 12, n. 9, p. 1238, doi. 10.3390/biom12091238
- By:
- Publication type:
- Article
Spectrum of Rare and Common Genetic Variants in Arrhythmogenic Cardiomyopathy Patients.
- Published in:
- Biomolecules (2218-273X), 2022, v. 12, n. 8, p. 1043, doi. 10.3390/biom12081043
- By:
- Publication type:
- Article
Molecular Genetics Analysis of 70 Chinese Families With Muscular Dystrophy Using Multiplex Ligation-Dependent Probe Amplification and Next-Generation Sequencing.
- Published in:
- Frontiers in Pharmacology, 2019, p. 1, doi. 10.3389/fphar.2019.00814
- By:
- Publication type:
- Article
Updates on the molecular spectrum of MEFV variants in lebanese patients with Familial Mediterranean Fever.
- Published in:
- Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2024.1506656
- By:
- Publication type:
- Article
Editorial: Emerging talents in human and medical genomics.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1497486
- By:
- Publication type:
- Article
Editorial: Emerging talents in human and medical genomics.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1497486
- By:
- Publication type:
- Article
Pitfalls in Genetic Testing for Consanguineous Pediatric Populations.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Molecular characterization and re-interpretation of HNF1A variants identified in Indian MODY subjects towards precision medicine.
- Published in:
- Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1177268
- By:
- Publication type:
- Article
Genomic Medicine.
- Published in:
- JAMA: Journal of the American Medical Association, 2013, v. 309, n. 14, p. 1544, doi. 10.1001/jama.2013.1927
- By:
- Publication type:
- Article
Integrated multi-omics analyses on patient-derived CRC organoids highlight altered molecular pathways in colorectal cancer progression involving PTEN.
- Published in:
- Journal of Experimental & Clinical Cancer Research (17569966), 2021, v. 40, n. 1, p. 1, doi. 10.1186/s13046-021-01986-8
- By:
- Publication type:
- Article
NetCapDB: measuring bioinformatics capacity development in Africa.
- Published in:
- BMC Research Notes, 2016, v. 9, p. 1, doi. 10.1186/s13104-016-1950-5
- By:
- Publication type:
- Article
A novel BLOC1S5‐related HPS‐11 patient and zebrafish with bloc1s5 disruption.
- Published in:
- Pigment Cell & Melanoma Research, 2021, v. 34, n. 6, p. 1112, doi. 10.1111/pcmr.12995
- By:
- Publication type:
- Article
Comprehensive analysis of spectral distribution of a large cohort of Chinese patients with non‐syndromic oculocutaneous albinism facilitates genetic diagnosis.
- Published in:
- Pigment Cell & Melanoma Research, 2019, v. 32, n. 5, p. 672, doi. 10.1111/pcmr.12790
- By:
- Publication type:
- Article
Testing the NHS: the tensions between personalized and collective medicine produced by personal genomics in the UK.
- Published in:
- New Genetics & Society, 2017, v. 36, n. 3, p. 227, doi. 10.1080/14636778.2017.1351873
- By:
- Publication type:
- Article
Implicit and explicit notions of valorization in genomics research.
- Published in:
- New Genetics & Society, 2014, v. 33, n. 1, p. 79, doi. 10.1080/14636778.2014.885222
- By:
- Publication type:
- Article
Genomic African and Native American Ancestry and 15‐Year Cognitive Trajectory: Bambui Study, Brazil.
- Published in:
- Journal of the American Geriatrics Society, 2018, v. 66, n. 10, p. 1956, doi. 10.1111/jgs.15504
- By:
- Publication type:
- Article
Does size matter? Two new deletions in the HBB gene cause β<sup>0</sup>-thalassemia.
- Published in:
- Annals of Hematology, 2022, v. 101, n. 7, p. 1465, doi. 10.1007/s00277-022-04837-4
- By:
- Publication type:
- Article
Leveraging Genomics for Head and Neck Cancer Treatment.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Human Papillomavirus Genome Integration and Head and Neck Cancer.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Pathogenic, Total Loss-of-Function DYRK1B Variants Cause Monogenic Obesity Associated With Type 2 Diabetes.
- Published in:
- Diabetes Care, 2024, v. 47, n. 3, p. 444, doi. 10.2337/dc23-1851
- By:
- Publication type:
- Article
Clinical decisions surrounding genomic and proteomic testing among United States veterans treated for lung cancer within the Veterans Health Administration.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Genome-wide identification of key modulators of gene-gene interaction networks in breast cancer.
- Published in:
- BMC Genomics, 2017, v. 18, p. 115, doi. 10.1186/s12864-017-4028-4
- By:
- Publication type:
- Article
Comparative genomic analysis and characterization of incompatibility group FIB plasmid encoded virulence factors of Salmonella enterica isolated from food sources.
- Published in:
- BMC Genomics, 2017, v. 18, p. 1, doi. 10.1186/s12864-017-3954-5
- By:
- Publication type:
- Article
Stability SCAD: a powerful approach to detect interactions in large-scale genomic study.
- Published in:
- BMC Bioinformatics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2105-15-62
- By:
- Publication type:
- Article
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
- Published in:
- PLoS Genetics, 2019, v. 15, n. 10, p. 1, doi. 10.1371/journal.pgen.1008409
- By:
- Publication type:
- Article
Genetic effects on the commensal microbiota in inflammatory bowel disease patients.
- Published in:
- PLoS Genetics, 2019, v. 15, n. 3, p. 1, doi. 10.1371/journal.pgen.1008018
- By:
- Publication type:
- Article
The impact of genomics on the future of medicine and health.
- Published in:
- 2014
- By:
- Publication type:
- Opinion
Novel LDLR variants affecting low density lipoprotein metabolism identified in familial hypercholesterolemia.
- Published in:
- Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-023-09169-8
- By:
- Publication type:
- Article
Genetic characterization of Schuurs-Hoeijmakers syndrome in a moroccan individual with heterozygote PACS1 mutation.
- Published in:
- Molecular Biology Reports, 2023, v. 50, n. 11, p. 9121, doi. 10.1007/s11033-023-08803-9
- By:
- Publication type:
- Article
Personalized treatment for colorectal cancer: novel developments and putative therapeutic strategies.
- Published in:
- Langenbeck's Archives of Surgery, 2015, v. 400, n. 2, p. 129, doi. 10.1007/s00423-015-1276-0
- By:
- Publication type:
- Article
Pathogen genetics: Sequencing of clinical bacterial isolates.
- Published in:
- Nature Reviews Genetics, 2015, v. 16, n. 9, p. 499, doi. 10.1038/nrg4002
- By:
- Publication type:
- Article
Start me up: ways to encourage sharing of genomic information with research participants.
- Published in:
- Nature Reviews Genetics, 2015, v. 16, n. 8, p. 435, doi. 10.1038/nrg3981
- By:
- Publication type:
- Article
Natural selection and infectious disease in human populations.
- Published in:
- Nature Reviews Genetics, 2014, v. 15, n. 6, p. 379, doi. 10.1038/nrg3734
- By:
- Publication type:
- Article
BEYOND NATURE? GENOMIC MODIFICATION AND THE FUTURE OF HUMANITY.
- Published in:
- Law & Contemporary Problems, 2018, v. 81, n. 3, p. 195
- By:
- Publication type:
- Article