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  4. The Oculome Panel Test Next-Generation Sequencing to Diagnose a Diverse Range of Genetic Developmental Eye Disorders
Details

The Oculome Panel Test Next-Generation Sequencing to Diagnose a Diverse Range of Genetic Developmental Eye Disorders

Journal
Ophthalmology
ISSN
0161-6420
Date Issued
2019
Author(s)
Aara Patel
Jane D. Hayward
Vijay Tailor
Rodney Nyanhete
Helena Ahlfors
Camila Gabriel
Tommaso B. Jannini
Yassir Abbou-Rayyah
Robert Henderson
Ken K. Nischal
Lily Islam
Maria Bitner-Glindzicz
Jane Hurst
Leonardo E. Valdivia
ZANOLLI DE SOLMINIHAC, MARIO TOMAS  
Facultad de Medicina Clínica Alemana Universidad del Desarrollo  
Mariya Moosajee
John Brookes
Maria Papadopoulos
Peng T. Khaw
Thomas Cullup
Lucy Jenkins
Annegret Dahlmann-Noor
Jane C. Sowden
Type
Resource Types::text::journal::journal article
Scopus ID
2-s2.0-85061437872
WoS ID
WOS:000468275600027
DOI
10.1016/j.ophtha.2018.12.050
URL
https://investigadores.udd.cl/handle/123456789/2477
Subjects
anterior segment dysgenesis

; 

childhood blindness

; 

congenital cataract

; 

susceptibility loci

; 

medical genetics

; 

american-college

; 

united-kingdom

; 

mutations

; 

foxc1

; 

anophthalmia

; 

adolescent

; 

child

; 

child, preschool

; 

dna copy number variations

; 

eye abnormalities

; 

female

; 

genome, human

; 

high-throughput nucleotide sequencing

; 

humans

; 

infant

; 

infant, newborn

; 

male

; 

molecular diagnostic techniques

; 

mutation

; 

pedigree

; 

proteome

; 

aldh1a3 protein

; 

cytochrome p450 1b1

; 

genomic dna

; 

growth differentiation factor 3

; 

growth differentiation factor 6

; 

protein

; 

transcription factor foxc1

; 

unclassified drug

; 

proteome

; 

adolescent

; 

albinism

; 

anophthalmia

; 

article

; 

bioinformatics

; 

child

; 

coloboma

; 

congenital cataract

; 

controlled study

; 

copy number variation

; 

diagnostic test

; 

diagnostic value

; 

ethnicity

; 

eye disease

; 

female

; 

gene frequency

; 

genetic association

; 

genetic variability

; 

heterozygote

; 

high throughput sequencing

; 

human

; 

infant

; 

major clinical study

; 

male

; 

microphthalmia

; 

molecular diagnosis

; 

newborn

; 

next generation sequencing

; 

optic nerve atrophy

; 

phenotype

; 

pilot study

; 

priority journal

; 

retina dystrophy

; 

strabismus

; 

eye malformation

; 

genetics

; 

human genome

; 

molecular diagnosis

; 

mutation

; 

pedigree

; 

preschool child

; 

procedures
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