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The cone dystrophies
scientific article published on 01 January 1998
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
9775217
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9775217%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 December 2019
review article
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title
The cone dystrophies
(English)
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Europe PubMed Central
PubMed ID
9775217
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9775217%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 December 2019
author name string
Simunovic MP
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
9775217
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9775217%20AND%20SRC:MED&resulttype=core&format=json
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5 December 2019
Moore AT
series ordinal
2
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Europe PubMed Central
PubMed ID
9775217
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9775217%20AND%20SRC:MED&resulttype=core&format=json
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5 December 2019
publication date
1 January 1998
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Europe PubMed Central
PubMed ID
9775217
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9775217%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 December 2019
published in
Eye
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Europe PubMed Central
PubMed ID
9775217
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9775217%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 December 2019
volume
12 ( Pt 3b)
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stated in
Europe PubMed Central
PubMed ID
9775217
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9775217%20AND%20SRC:MED&resulttype=core&format=json
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5 December 2019
page(s)
553-565
1 reference
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Europe PubMed Central
PubMed ID
9775217
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9775217%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 December 2019
exact match
https://scigraph.springernature.com/pub.10.1038/eye.1998.145
0 references
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The cone degenerations
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reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
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Electroretinograms in patients with achromatopsia
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Crossref
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https://api.crossref.org/works/10.1038%2FEYE.1998.145
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Congenital total color blindness: a clincopathological report
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Crossref
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7 January 2021
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Typical total monochromacy. A histological and psychophysical study
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
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7 January 2021
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Receptors in the monochromat eye
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Crossref
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https://api.crossref.org/works/10.1038%2FEYE.1998.145
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7 January 2021
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The enigma of typical total monochromacy
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https://api.crossref.org/works/10.1038%2FEYE.1998.145
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7 January 2021
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Congenital Achromatopsia: A Report of 19 Cases*
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https://api.crossref.org/works/10.1038%2FEYE.1998.145
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7 January 2021
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Rod and cone receptor mechanisms in typical and atypical congenital achromatopsia
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https://api.crossref.org/works/10.1038%2FEYE.1998.145
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7 January 2021
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Achromatopsia with amblyopia. II. A psychophysical study of 5 cases
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https://api.crossref.org/works/10.1038%2FEYE.1998.145
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7 January 2021
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inferred from DOI database lookup
The visual functions of the complete colorblind
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
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7 January 2021
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inferred from DOI database lookup
Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
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7 January 2021
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Eight cases of congenital achromatopsia with amblyopia in two pedigrees from Northern Sweden
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
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7 January 2021
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inferred from DOI database lookup
Different expressions of one gene for congenital achromatopsia with amblyopia in Northern Sweden
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
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7 January 2021
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Classification of complete and incomplete autosomal recessive achromatopsia
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
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7 January 2021
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Autosomal Recessive Incomplete Achromatopsia with Protan Luminosity Function
1 reference
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https://api.crossref.org/works/10.1038%2FEYE.1998.145
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7 January 2021
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A case of incomplete achromatopsia of the deutan type.
1 reference
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Crossref
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https://api.crossref.org/works/10.1038%2FEYE.1998.145
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7 January 2021
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Colour vision in blue-cone 'monochromacy'.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
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7 January 2021
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inferred from DOI database lookup
Is colour vision possible with only rods and blue-sensitive cones?
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
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7 January 2021
based on heuristic
inferred from DOI database lookup
Typical and atypical monochromacy studied by specific quantitative perimetry
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Color plates to help identify patients with blue cone monochromatism.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
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7 January 2021
based on heuristic
inferred from DOI database lookup
Berson test for blue cone monochromatism
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
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7 January 2021
based on heuristic
inferred from DOI database lookup
The photoreceptors in atypical achromatopsia.
1 reference
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Crossref
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https://api.crossref.org/works/10.1038%2FEYE.1998.145
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7 January 2021
based on heuristic
inferred from DOI database lookup
Heterozygote detection in X-linked recessive incomplete achromatopsia
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
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7 January 2021
based on heuristic
inferred from DOI database lookup
Eye and head movements in patients with achromatopsia.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
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7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular genetics of human blue cone monochromacy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Gene conversion between red and defective green opsin gene in blue cone monochromacy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A new mechanism in blue cone monochromatism
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Congenital X-linked incomplete achromatopsia. Evidence for slow progression, carrier fundus findings, and possible genetic linkage with glucose-6-phosphate dehydrogenase locus
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Atypical Achromatopia of Sex-Linked Recessive Inheritance*
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
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7 January 2021
based on heuristic
inferred from DOI database lookup
Hue-discrimination in para-central parts of the human retina measured at different luminance levels
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Defects of the colour-sense mechanism as indicated by the accommodation reflex
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The electroretinogram of a cone-monochromat
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Monochromatism*
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Combined forms of congenital colour defects; a pedigree with atypical total colour blindness
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Differential diagnosis of typical and atypical congenital achromatopsia. Analysis of a progressive foveal dystrophy and a nonprogressive oligo-cone trichromasy (general cone dysfunction without achromatopsia), both of which at first had been diagnos
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
X-linked progressive cone dystrophy. Clinical characteristics of affected males and female carriers
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Visual field changes in cone-rod degenerations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Fundus albipunctatus associated with cone dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
X-linked recessive cone dystrophy with tapetal-like sheen. A newly recognized entity with Mizuo-Nakamura phenomenon
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cone and cone-rod dystrophies
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
An electroretinographic and molecular genetic study of X-linked cone degeneration
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
X linked progressive cone dystrophy with specific attention to carrier detection
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Further studies on acquired deficiency of color discrimination
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Dominant cone dystrophy starting with blue cone involvement
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Late onset dominant cone dystrophy with early blue cone involvement
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cone-Rod Dystrophy
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Peripheral cone disease
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Progressive cone dystrophy
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Clinical subtypes of cone-rod dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cone and rod function in cone degenerations.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cone Dystrophy with Dominant Inheritance
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cone dystrophy, nyctalopia, and supernormal rod responses. A new retinal degeneration
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Supernormal scotopic ERG in cone dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Autosomal dominant cone-rod dystrophy with negative electroretinogram
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cone dystrophies with negative photopic electroretinogram
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
X linked progressive cone dystrophy. Localisation of the gene locus to Xp21-p11.1 by linkage analysis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
X-linked cone dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Localization of a novel X-linked progressive cone dystrophy gene to Xq27: evidence for genetic heterogeneity
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Chromosome 19q cone-rod retinal dystrophy. Ocular phenotype
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Localisation of a gene for dominant cone-rod dystrophy (CORD6) to chromosome 17p
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Autosomal dominant cone-rod dystrophy associated with mutations in codon 244 (Asn244His) and codon 184 (Tyr184Ser) of the peripherin/RDS gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Autosomal dominant cone-rod dystrophy associated with a Val200Glu mutation of the peripherin/RDS gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Serine-27-Phenylalanine Mutation within the Peripherin/RDS Gene in a Family with Cone Dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Deletion mapping of a retinal cone-rod dystrophy: assignment to 18q211.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A gene for autosomal dominant progressive cone dystrophy (CORD5) maps to chromosome 17p12-p13
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mapping of autosomal dominant cone degeneration to chromosome 17p
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A novel mutation (Asn244Lys) in the peripherin/RDS gene causing autosomal dominant retinitis pigmentosa associated with bull's-eye maculopathy detected by nonradioisotopic SSCP
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular genetics of inherited variation in human color vision
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Retinal cone dysfunction and mental retardation associated with a de novo balanced translocation 1;6(q44;q27).
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Natural history of Alström syndrome in early childhood: onset with dilated cardiomyopathy.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Retinal degeneration in hereditary ataxia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A progressive cone-rod dystrophy and amelogenesis imperfecta: a new syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Leber's congenital amaurosis--a new syndrome with a cardiomyopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A familial syndrome of progressive cone dystrophy, degenerative liver disease, endocrine dysfunction and hearing defect. I. Ophthalmological findings.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cone-rod congenital amaurosis associated with congenital hypertrichosis: an autosomal recessive condition.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEYE.1998.145
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1038/EYE.1998.145
1 reference
stated in
Europe PubMed Central
PubMed ID
9775217
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9775217%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 December 2019
Dimensions Publication ID
1042891689
0 references
PubMed ID
9775217
1 reference
stated in
Europe PubMed Central
PubMed ID
9775217
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9775217%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 December 2019
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