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Diagnostic definition in a family with malattia leventinese in colombia
Nancy Gelvez
, Paula Hurtado-Villa
, Silvia Flórez
, Anne Charlotte Brieke
, Francisco Rodríguez
,
Ana María Bertolotto
,
Martha L. Tamayo
Institute of Human Genetics
Department of Pediatrics
Hospital Universitario San Ignacio
Universidad Javeriana
Independiente
Universidad del Rosario
Hospital Universitario San Ignacio
Research output
:
Contribution to journal
›
Article
›
peer-review
1
Scopus citations
Overview
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Keyphrases
Colombia
100%
Malattia Leventinese
100%
Diagnostic Definitions
100%
EFEMP1 Gene
50%
Pathogenic Variants
50%
Exon
25%
DNA Extraction
25%
Family Members
25%
Inherited Disease
25%
Molecular Diagnostics
25%
Comprehensive Approach
25%
Ophthalmological
25%
Geneticists
25%
Autosomal Dominant
25%
Ophthalmologist
25%
Pediatricians
25%
Ethical Issues
25%
Blindness
25%
Low Vision
25%
Macular Degeneration
25%
Retinal pigment Epithelium
25%
Retinal Dystrophy
25%
Drusen
25%
Bruch's Membrane
25%
Treating Physicians
25%
Peripheral Blood Samples
25%
Medicine and Dentistry
Diseases
100%
Genetic Disorder
50%
DNA Extraction
50%
Molecular Diagnosis
50%
Autosomal Dominant Inheritance
50%
Pediatrician
50%
Retina Dystrophy
50%
Macular Degeneration
50%
Retinal Pigment Epithelium
50%
Drusen
50%
Low Vision
50%
Exon
50%
Bruch's Membrane
50%
INIS
colombia
100%
diseases
100%
genes
66%
dna
33%
evaluation
33%
pathology
33%
blood
33%
exons
33%
symptoms
33%
extraction
33%
phenotype
33%
vision
33%
membranes
33%
epithelium
33%
retinal pigment
33%
Immunology and Microbiology
Exon
100%
DNA Extraction
100%
Autosomal Dominant Inheritance
100%
Bruch's Membrane
100%
Retinal Pigment Epithelium
100%