Found: 20
Select item for more details and to access through your institution.
Selective White Matter Involvement in a Patient with Late Onset Krabbe Disease: MR, MR Spectroscopy, and Diffusion Tensor Study.
- Published in:
- Journal of Neuroimaging, 2009, v. 19, n. 2, p. 191, doi. 10.1111/j.1552-6569.2008.00258.x
- By:
- Publication type:
- Article
Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB–FKBPL–NOTCH4 region of chromosome 6p21.3.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 18, p. 4138, doi. 10.1093/hmg/dds225
- By:
- Publication type:
- Article
Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 7, p. 2869, doi. 10.1093/brain/awad009
- By:
- Publication type:
- Article
Analysis of copy number variation at DMBT1 and age-related macular degeneration.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0311-5
- By:
- Publication type:
- Article
Neuroradiology and headaches.
- Published in:
- Journal of Headache & Pain, 2006, v. 7, n. 6, p. 422, doi. 10.1007/s10194-006-0347-6
- By:
- Publication type:
- Article
An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.
- Published in:
- Genes, 2020, v. 11, n. 4, p. 1, doi. 10.3390/genes11040460
- By:
- Publication type:
- Article
No evidence of association between complement factor I genetic variant rs10033900 and age-related macular degeneration.
- Published in:
- 2012
- By:
- Publication type:
- Letter
Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases.
- Published in:
- Briefings in Bioinformatics, 2022, v. 23, n. 5, p. 1, doi. 10.1093/bib/bbac188
- By:
- Publication type:
- Article
Long-term effect of platelet lysate on primary fibroblasts highlighted with a proteomic approach.
- Published in:
- Journal of Tissue Engineering & Regenerative Medicine, 2009, v. 3, n. 7, p. 531, doi. 10.1002/term.195
- By:
- Publication type:
- Article
Association of Smoking, Alcohol Consumption, Blood Pressure, Body Mass Index, and Glycemic Risk Factors With Age-Related Macular Degeneration: A Mendelian Randomization Study.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Association of C-Reactive Protein Genetic Polymorphisms With Late Age-Related Macular Degeneration.
- Published in:
- 2017
- By:
- Publication type:
- journal article
The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species.
- Published in:
- Nucleic Acids Research, 2020, v. 48, n. D1, p. D704, doi. 10.1093/nar/gkz997
- By:
- Publication type:
- Article
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.
- Published in:
- Nucleic Acids Research, 2019, v. 47, n. D1, p. D1018, doi. 10.1093/nar/gky1105
- By:
- Publication type:
- Article
The Human Phenotype Ontology in 2017.
- Published in:
- Nucleic Acids Research, 2017, v. 45, n. D1, p. D865, doi. 10.1093/nar/gkw1039
- By:
- Publication type:
- Article
Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.
- Published in:
- Bioinformatics, 2017, v. 33, n. 15, p. 2421, doi. 10.1093/bioinformatics/btx147
- By:
- Publication type:
- Article
Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype.
- Published in:
- International Journal of Epidemiology, 2012, v. 41, n. 1, p. 250, doi. 10.1093/ije/dyr204
- By:
- Publication type:
- Article
Increased circulating levels of Factor H-Related Protein 4 are strongly associated with age-related macular degeneration.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-14499-3
- By:
- Publication type:
- Article
Investigation of associations between retinal microvascular parameters and albuminuria in UK Biobank: a cross-sectional case-control study.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Phenotype‐driven approaches to enhance variant prioritization and diagnosis of rare disease.
- Published in:
- Human Mutation, 2022, v. 43, n. 8, p. 1071, doi. 10.1002/humu.24380
- By:
- Publication type:
- Article
Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy.
- Published in:
- Human Mutation, 2019, v. 40, n. 5, p. 578, doi. 10.1002/humu.23715
- By:
- Publication type:
- Article