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English
A new phenotype of autosomal dominant nemaline myopathy
scientific article published on 01 January 2002
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11731279
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11731279%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 December 2019
title
A new phenotype of autosomal dominant nemaline myopathy
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11731279
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11731279%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 December 2019
main subject
nemaline myopathy
1 reference
based on heuristic
inferred from title
phenotype
1 reference
based on heuristic
inferred from title
author
Martin Lammens
series ordinal
6
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11731279
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11731279%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 December 2019
author name string
I M P Gommans
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11731279
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11731279%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 December 2019
B G M van Engelen
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11731279
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11731279%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 December 2019
H J ter Laak
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11731279
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11731279%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 December 2019
H G Brunner
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11731279
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11731279%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 December 2019
H Kremer
series ordinal
5
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11731279
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11731279%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 December 2019
O J M Vogels
series ordinal
7
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11731279
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11731279%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 December 2019
language of work or name
English
0 references
publication date
1 January 2002
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11731279
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11731279%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 December 2019
published in
Neuromuscular Disorders
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11731279
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11731279%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 December 2019
volume
12
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11731279
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11731279%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 December 2019
issue
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11731279
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11731279%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 December 2019
page(s)
13-18
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11731279
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11731279%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 December 2019
cites work
Report of the 70th ENMC International Workshop: nemaline myopathy, 11-13 June 1999, Naarden, The Netherlands.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900231-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900231-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900231-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900231-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900231-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Localization of the gene for dominant cystoid macular dystrophy on chromosome 7p
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900231-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Strategies for multilocus linkage analysis in humans
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900231-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Construction of human linkage maps: likelihood calculations for multilocus linkage analysis.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900231-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Investigations on the Inheritance of Nemaline Myopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900231-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Congenital nemaline myopathy. A clinical follow-up of twelve patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900231-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1016/S0960-8966(01)00231-0
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11731279
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11731279%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 December 2019
PubMed publication ID
11731279
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11731279
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11731279%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 December 2019
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