Filtros de búsqueda

Lista de obras de

A SNP profiling panel for sample tracking in whole-exome sequencing studies.

scientific article published on 27 September 2013

A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping

artículo científico publicado en 2019

A systematic review of the applications of artificial intelligence and machine learning in autoimmune diseases

artículo científico publicado en 2020

Clinical Implications of Old and New Genes for Open-Angle Glaucoma

article

Cold-induced urticarial autoinflammatory syndrome related to factor XII activation

scientific article published on 10 January 2020

Comparison of Mendeliome exome capture kits for use in clinical diagnostics

artículo científico publicado en 2020

Composite likelihood-based meta-analysis of breast cancer association studies.

artículo científico publicado en 2011

Comprehensive sequencing of the myocilin gene in a selected cohort of severe primary open-angle glaucoma patients

article

Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes

artículo científico publicado en 2016

Determination of a gene and environment risk model for age-related macular degeneration.

artículo científico publicado en 2010

Erratum to: a SNP profiling panel for sample tracking in whole-exome sequencing studies.

artículo científico publicado en 2015

Exome Sequencing in Classic Hairy Cell Leukaemia Reveals Widespread Variation in Acquired Somatic Mutations between Individual Tumours Apart from the Signature BRAF V(600)E Lesion.

artículo científico publicado en 2016

Exome sequence read depth methods for identifying copy number changes

artículo científico publicado en 2014

Exome-based linkage disequilibrium maps of individual genes: functional clustering and relationship to disease.

artículo científico publicado en 2012

Genetic variants within chromosome 4q28.3 are not reproducibly associated with Age-related Macular Degeneration (AMD)

artículo científico publicado en 2010

Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma

artículo científico publicado en 2014

Impaired expression of metallothioneins contributes to allergen-induced inflammation in patients with atopic dermatitis

artículo científico publicado en 2023

Linkage disequilibrium maps for European and African populations constructed from whole genome sequence data

scientific article published on 17 October 2019

Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations

artículo científico publicado en 2014

Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process

artículo científico publicado en 2014

Pharmacogenetic associations with vascular endothelial growth factor inhibition in participants with neovascular age-related macular degeneration in the IVAN Study.

artículo científico publicado en 2013

Review article: the genetics of the human leucocyte antigen region in inflammatory bowel disease

scientific article published on 13 September 2019

The FRAXA and FRAXE allele repeat size of boys from the Avon Longitudinal Study of Parents and Children (ALSPAC)

artículo científico publicado en 2020

Whole exome sequencing identifies novel recurrently mutated genes in patients with splenic marginal zone lymphoma

artículo científico publicado en 2013

Whole genome sequences are required to fully resolve the linkage disequilibrium structure of human populations

artículo científico publicado en 2015

Dominio Público Uruguay está sostenido por:

Acerca de Dominio Público Uruguay

Ayuda