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English
Intracranial calcification, retinopathy, and osteopenia: a new syndrome?
scientific article
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11992766
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11992766%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 December 2019
title
Intracranial calcification, retinopathy, and osteopenia: a new syndrome?
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11992766
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11992766%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 December 2019
author
Ravi Bhargava
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11992766
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11992766%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 December 2019
author name string
Mona Sazgar
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11992766
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11992766%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 December 2019
Norma J Leonard
series ordinal
2
1 reference
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Europe PubMed Central
PubMed publication ID
11992766
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11992766%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 December 2019
Deborah L Renaud
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11992766
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11992766%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 December 2019
D Barry Sinclair
series ordinal
5
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11992766
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11992766%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 December 2019
publication date
1 April 2002
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11992766
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11992766%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 December 2019
published in
Pediatric Neurology
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11992766
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11992766%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 December 2019
volume
26
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11992766
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11992766%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 December 2019
issue
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11992766
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11992766%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 December 2019
page(s)
324-328
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11992766
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11992766%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 December 2019
cites work
Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome?
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900398-8
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A familial syndrome with coats' reaction retinal angiomas, hair and nail defects and intracranial calcification
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900398-8
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900398-8
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of missense mutations in the Norrie disease gene associated with advanced retinopathy of prematurity
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900398-8
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Missense mutations in the NDP gene in patients with a less severe course of Norrie disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900398-8
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in the Norrie disease gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900398-8
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900398-8
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in the candidate gene for Norrie disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900398-8
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Bilateral coats retinopathy associated with aplastic anaemia and mild dyskeratotic signs
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900398-8
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1016/S0887-8994(01)00398-8
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11992766
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11992766%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 December 2019
PubMed publication ID
11992766
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11992766
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11992766%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 December 2019
ResearchGate publication ID
11377252
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