Found: 14
Select item for more details and to access through your institution.
Analysis of Genetic Variants Associated with COVID-19 Outcome Highlights Different Distributions among Populations.
- Published in:
- Journal of Personalized Medicine, 2022, v. 12, n. 11, p. 1851, doi. 10.3390/jpm12111851
- By:
- Publication type:
- Article
WARE: Wet AMD Risk-Evaluation Tool as a Clinical Decision-Support System Integrating Genetic and Non-Genetic Factors.
- Published in:
- Journal of Personalized Medicine, 2022, v. 12, n. 7, p. 1034, doi. 10.3390/jpm12071034
- By:
- Publication type:
- Article
Age and Sex Modulate SARS-CoV-2 Viral Load Kinetics: A Longitudinal Analysis of 1735 Subjects.
- Published in:
- Journal of Personalized Medicine, 2021, v. 11, n. 9, p. 882, doi. 10.3390/jpm11090882
- By:
- Publication type:
- Article
Identification of Genetic Networks Reveals Complex Associations and Risk Trajectory Linking Mild Cognitive Impairment to Alzheimer's Disease.
- Published in:
- Frontiers in Aging Neuroscience, 2022, v. 14, p. 1, doi. 10.3389/fnagi.2022.821789
- By:
- Publication type:
- Article
Epigenetic profiling of the D4Z4 locus: Optimization of the protocol for studying DNA methylation at single CpG site level.
- Published in:
- Electrophoresis, 2023, v. 44, n. 19/20, p. 1588, doi. 10.1002/elps.202300058
- By:
- Publication type:
- Article
Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients.
- Published in:
- Clinical Epigenetics, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13148-024-01747-2
- By:
- Publication type:
- Article
Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian families.
- Published in:
- Clinical Genetics, 2024, v. 105, n. 3, p. 335, doi. 10.1111/cge.14466
- By:
- Publication type:
- Article
D4Z4 Methylation Levels Combined with a Machine Learning Pipeline Highlight Single CpG Sites as Discriminating Biomarkers for FSHD Patients.
- Published in:
- Cells (2073-4409), 2022, v. 11, n. 24, p. 4114, doi. 10.3390/cells11244114
- By:
- Publication type:
- Article
Update on the Molecular Aspects and Methods Underlying the Complex Architecture of FSHD.
- Published in:
- Cells (2073-4409), 2022, v. 11, n. 17, p. 2687, doi. 10.3390/cells11172687
- By:
- Publication type:
- Article
Whole exome sequencing highlights rare variants in CTCF, DNMT1, DNMT3A, EZH2 and SUV39H1 as associated with FSHD.
- Published in:
- Frontiers in Genetics, 2023, p. 01, doi. 10.3389/fgene.2023.1235589
- By:
- Publication type:
- Article
RHO Variants and Autosomal Dominant Retinitis Pigmentosa: Insights from the Italian Genetic Landscape.
- Published in:
- Genes, 2024, v. 15, n. 9, p. 1158, doi. 10.3390/genes15091158
- By:
- Publication type:
- Article
Innovations in Medicine: Exploring ChatGPT's Impact on Rare Disorder Management.
- Published in:
- Genes, 2024, v. 15, n. 4, p. 421, doi. 10.3390/genes15040421
- By:
- Publication type:
- Article
Relationship between Nutrition, Lifestyle, and Neurodegenerative Disease: Lessons from ADH1B , CYP1A2 and MTHFR.
- Published in:
- Genes, 2022, v. 13, n. 8, p. 1498, doi. 10.3390/genes13081498
- By:
- Publication type:
- Article
Deciphering the Complexity of FSHD: A Multimodal Approach as a Model for Rare Disorders.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 20, p. 10949, doi. 10.3390/ijms252010949
- By:
- Publication type:
- Article