About: GJB2 Mutations in Patients with Nonsyndromic Hearing Loss from Croatia

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About: GJB2 Mutations in Patients with Nonsyndromic Hearing Loss from Croatia Goto Sponge NotDistinct Permalink

An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

Attributes	Values
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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