Results 11 to 20 of about 72,857 (290)

CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits [PDF]

open access: yes, 2017
There are few examples of robust associations between rare copy number variants (CNVs) and complex continuous human traits. Here we present a large-scale CNV association meta-analysis on anthropometric traits in up to 191,161 adult samples from 26 ...
Martin D Tobin (7795649)   +3 more
core   +19 more sources

stefpiatek/cnv-patissier: ESHG poster

open access: yes, 2021
Orchestrates your CNV ...
Stefan Piatek   +3 more
core   +1 more source

A novel RUNX1 exon 3 - 7 deletion causing a familial platelet disorder

open access: yesPlatelets, 2022
Familial Platelet Disorder with associated Myeloid Malignancy (FPDMM) is a rare inherited disorder confirmed with the presence of a pathogenic germline RUNX1 variant and is thought to be heavily underdiagnosed.
Ibrahim Almazni   +9 more
doaj   +1 more source

Key Role of Microglial Matrix Metalloproteinases in Choroidal Neovascularization

open access: yesFrontiers in Cellular Neuroscience, 2021
Age-related macular degeneration (AMD), especially neovascular AMD with choroidal neovascularization (CNV), is the leading cause of blindness in the elderly.
Juhee Kim   +13 more
doaj   +1 more source

A Shallow Convolutional Learning Network for Classification of Cancers Based on Copy Number Variations

open access: yesSensors, 2019
Genomic copy number variations (CNVs) are among the most important structural variations. They are linked to several diseases and cancer types. Cancer is a leading cause of death worldwide.
Ahmad AlShibli, Hassan Mathkour
doaj   +1 more source

Association between choriocapillaris flow deficit and choroidal neovascularization activity in eyes with myopic choroidal neovascularization

open access: yesScientific Reports, 2021
Although choriocapillaris flow deficit (CFD) around choroidal neovascularization (CNV) is less associated with CNV activity in myopic eyes, no reports are investigating its size as an indicator of CNV activity.
Sato Uematsu   +9 more
doaj   +1 more source

De la desregulación y crisis a las finanzas para el desarrollo económico [PDF]

open access: yesOla Financiera, 2009
Después de un largo periodo de fuerte desregulación financiera no solo no se generaron condiciones de crecimiento económico sostenido, sino que las posibilidades de desarrollo se extinguieron por completo para el mundo entero, desde China a Estados ...
Alejandro Vanoli, Augusto Magliano
doaj  

OCT Angiography: An Upcoming Tool for Diagnosis and Treatment of Retinal Vascular Diseases

open access: yesDelhi Journal of Ophthalmology, 2015
Optical Coherence Tomography (OCT) angiography is an upcoming non-invasive and dyeless imaging modality which depicts retinal microvasculature by processing scans taken repeatedly at the same location, at different points of time using Split-spectrum ...
Purnima Sood   +2 more
doaj   +1 more source

CCR3 and choroidal neovascularization. [PDF]

open access: yesPLoS ONE, 2011
Age-related macular degeneration (AMD) is the leading cause of irreversible blindness in the elderly in industrialized countries. The "wet" AMD, characterized by the development of choroidal neovacularization (CNV), could result in rapid and severe loss ...
Yiwen Li   +5 more
doaj   +1 more source

Genome-Wide Assessment Characteristics of Genes Overlapping Copy Number Variation Regions in Duroc Purebred Population

open access: yesFrontiers in Genetics, 2021
Copy number variations (CNVs) are important structural variations that can cause significant phenotypic diversity. Reliable CNVs mapping can be achieved by identification of CNVs from different genetic backgrounds.
Zhipeng Wang   +6 more
doaj   +1 more source

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