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About:
GJB2 Mutations in Patients with Nonsyndromic Hearing Loss from Croatia
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An Entity of Type :
http://linked.opendata.cz/ontology/domain/vavai/Vysledek
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linked.opendata.cz
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http://linked.opendata.cz/ontology/domain/vavai/Vysledek
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rdf:type
skos:Concept
http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description
Spectrum and frequency of mutations in the GJB2 gene in patients with non-syndromic hearing loss from Croatia is reported
Spectrum and frequency of mutations in the GJB2 gene in patients with non-syndromic hearing loss from Croatia is reported
(en)
Title
GJB2 Mutations in Patients with Nonsyndromic Hearing Loss from Croatia
GJB2 Mutations in Patients with Nonsyndromic Hearing Loss from Croatia
(en)
skos:prefLabel
GJB2 Mutations in Patients with Nonsyndromic Hearing Loss from Croatia
GJB2 Mutations in Patients with Nonsyndromic Hearing Loss from Croatia
(en)
skos:notation
RIV/00216208:11130/09:5702!RIV10-MZ0-11130___
http://linked.open...avai/riv/aktivita
P
http://linked.open...avai/riv/aktivity
P(NR8330)
http://linked.open...iv/cisloPeriodika
13
http://linked.open...vai/riv/dodaniDat
2010
http://linked.open...aciTvurceVysledku
Seeman, Pavel
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 / 2. lékařská fakulta
http://linked.open...dnocenehoVysledku
316437
http://linked.open...ai/riv/idVysledku
RIV/00216208:11130/09:5702
http://linked.open...riv/jazykVysledku
eng - angličtina
http://linked.open.../riv/klicovaSlova
connexin 26 gene; high prevalence; high-frequency; recessive deafness; childhood deafness; ashkenazi jews; dfnb1; del(gjb6-d13s1830); population; individuals
(en)
http://linked.open.../riv/klicoveSlovo
ashkenazi jews
childhood deafness
connexin 26 gene
del(gjb6-d13s1830)
dfnb1
high-frequency
high prevalence
recessive deafness
individuals
population
http://linked.open...odStatuVydavatele
US - Spojené státy americké
http://linked.open...ontrolniKodProRIV
[14F6799C817B]
http://linked.open...i/riv/nazevZdroje
Genetic Testing and Molecular Biomarkers
http://linked.open...in/vavai/riv/obor
FH
http://linked.open...ichTvurcuVysledku
1
(
xsd:int
)
http://linked.open...cetTvurcuVysledku
6
(
xsd:int
)
http://linked.open...vavai/riv/projekt
Lamin A/C gene (LMNA) analysis in patients and families with autosomal recessive, axonal type of inherited neuropathy Charcot-Marie-Tooth (AR CMT2).
http://linked.open...UplatneniVysledku
2009
http://linked.open...v/svazekPeriodika
5
http://linked.open...iv/tvurceVysledku
Seeman, Pavel
Sansovič, I.
Barišic, I.
Kneževic, J.
Musani, V.
Pavelič, J.
http://linked.open...ain/vavai/riv/wos
000270601500023
issn
1945-0265
number of pages
7
(
xsd:int
)
http://localhost/t...ganizacniJednotka
11130
is
http://linked.open...avai/riv/vysledek
of
GJB2 Mutations in Patients with Nonsyndromic Hearing Loss from Croatia
GJB2 Mutations in Patients with Nonsyndromic Hearing Loss from Croatia
GJB2 Mutations in Patients with Nonsyndromic Hearing Loss from Croatia
GJB2 Mutations in Patients with Nonsyndromic Hearing Loss from Croatia
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