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About:
CblE type of homocystinuria: Mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene
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An Entity of Type :
http://linked.opendata.cz/ontology/domain/vavai/Vysledek
, within Data Space :
linked.opendata.cz
associated with source
document(s)
Type:
skos:Concept
http://linked.opendata.cz/ontology/domain/vavai/Vysledek
New Facet based on Instances of this Class
Attributes
Values
rdf:type
skos:Concept
http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description
homocystinuria, CblE, phenotype
homocystinuria, CblE, phenotype
(en)
Title
CblE type of homocystinuria: Mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene
CblE type of homocystinuria: Mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene
(en)
skos:prefLabel
CblE type of homocystinuria: Mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene
CblE type of homocystinuria: Mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene
(en)
skos:notation
RIV/00216208:11110/03:00006113!RIV/2004/MSM/111104/N
http://linked.open.../vavai/riv/strany
361;369
http://linked.open...avai/riv/aktivita
Z
http://linked.open...avai/riv/aktivity
Z(MSM 111100003)
http://linked.open...iv/cisloPeriodika
26
http://linked.open...vai/riv/dodaniDat
2004
http://linked.open...aciTvurceVysledku
Zavaďáková, Petra
http://linked.open.../riv/druhVysledku
J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju
S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele
Univerzita Karlova v Praze / 1. lékařská fakulta
http://linked.open...dnocenehoVysledku
600467
http://linked.open...ai/riv/idVysledku
RIV/00216208:11110/03:00006113
http://linked.open...riv/jazykVysledku
eng - angličtina
http://linked.open.../riv/klicovaSlova
homocystinuria;clinical;phenotype;patients;homozygous;novel;mutation;gene
(en)
http://linked.open.../riv/klicoveSlovo
patients
homocystinuria
gene
phenotype
clinical
mutation
novel
homozygous
http://linked.open...odStatuVydavatele
NL - Nizozemsko
http://linked.open...ontrolniKodProRIV
[1CFC419E80DC]
http://linked.open...i/riv/nazevZdroje
Journal of Inherited Metabolic Diseases
http://linked.open...in/vavai/riv/obor
EB
http://linked.open...ichTvurcuVysledku
1
(
xsd:int
)
http://linked.open...cetTvurcuVysledku
10
(
xsd:int
)
http://linked.open...ocetUcastnikuAkce
0
(
xsd:int
)
http://linked.open...nichUcastnikuAkce
0
(
xsd:int
)
http://linked.open...UplatneniVysledku
2003
http://linked.open...v/svazekPeriodika
2003
http://linked.open...iv/tvurceVysledku
Zavaďáková, Petra
http://linked.open...n/vavai/riv/zamer
http://linked.opendata.cz/resource/domain/vavai/zamer/MSM%20111100003
issn
0141-8955
number of pages
9
(
xsd:int
)
http://localhost/t...ganizacniJednotka
11110
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