UDD Logo
CRIS - Current Research Information System
New user? Click here to register.Have you forgotten your password?
Communities & Collections
Research Outputs
Fundings & Projects
Researchers
Datasets
Statistics
  1. Home
  2. CRIS
  3. Publications
  4. Genetic testing for inherited ocular conditions in a developing country
Details

Genetic testing for inherited ocular conditions in a developing country

Journal
Ophthalmic Genetics
ISSN
1381-6810
1744-5094
Date Issued
2020
Author(s)
ZANOLLI DE SOLMINIHAC, MARIO TOMAS  
Facultad de Medicina Clínica Alemana Universidad del Desarrollo  
Joaquín I. Oporto
Juan I. Verdaguer
Juan Pablo López
Sergio Zacharías
Pablo Romero
Diego Ossandón
Oliver Denk
Olga Acuña
José Manuel López
Ricardo Stevenson
Bernardita Álamos
Hernán Iturriaga
Type
Resource Types::text::journal::journal article
Scopus ID
2-s2.0-85081607616
WoS ID
WOS:000518742900001
DOI
10.1080/13816810.2020.1734944
URL
https://investigadores.udd.cl/handle/123456789/2310
Subjects
inherited ocular conditions

; 

sensitivity

; 

genetic testing

; 

abca4

; 

leber's congenital amaurosis

; 

adolescent

; 

adult

; 

child

; 

child, preschool

; 

developing countries

; 

eye proteins

; 

female

; 

genetic testing

; 

genotype

; 

humans

; 

infant

; 

infant, newborn

; 

male

; 

middle aged

; 

mutation

; 

phenotype

; 

retinal diseases

; 

young adult

; 

eye protein

; 

adolescent

; 

adult

; 

anophthalmia

; 

article

; 

best corrected visual acuity

; 

blood sampling

; 

child

; 

coloboma

; 

developing country

; 

electrophysiology

; 

eye disease

; 

eye fundus albipunctatus

; 

female

; 

gene mutation

; 

gene sequence

; 

genetic disorder

; 

genetic risk score

; 

genetic screening

; 

genotype

; 

human

; 

infant

; 

laser coagulation

; 

leber congenital amaurosis

; 

leukodystrophy

; 

macular degeneration

; 

major clinical study

; 

male

; 

microangiopathy

; 

microphthalmia

; 

molecular diagnosis

; 

multicenter study

; 

neovascular glaucoma

; 

newborn

; 

night blindness

; 

nuclear magnetic resonance

; 

observational study

; 

ophthalmology

; 

ophthalmoscopy

; 

phenotype

; 

priority journal

; 

prospective study

; 

retina dystrophy

; 

retina ischemia

; 

retina neovascularization

; 

school child

; 

whole exome sequencing

; 

case report

; 

genetic screening

; 

genetics

; 

middle aged

; 

mutation

; 

preschool child

; 

procedures

; 

retina disease

; 

young adult
Logo Universidad de Desarrollo
Encuéntranos en:

Sede Santiago

Av. Plaza 680, Las Condes

Contacto|Mapa

Sede Concepción

Ainavillo 456, Concepción

Contacto|Mapa

Hosting & SupportLogo Scimago Lab

Built with DSpace-CRIS software - Extension maintained and optimized by 4science

  • Accessibility settings
  • Privacy policy
  • End User Agreement
  • Send Feedback
Repository logo COAR Notify