About: Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: identification of two novel PDS/SLC26A4 mutations

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About: Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: identification of two novel PDS/SLC26A4 mutations Goto Sponge Distinct Permalink

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: identification of two novel PDS/SLC26A4 mutations Pendredův syndrom mezi pacienty s kongenitální hypotyreózou detekovaný při novorozeneckém screeningu: identifikace dvou nových mutací (cs) Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: identification of two novel PDS/SLC26A4 mutations (en)
Title	Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: identification of two novel PDS/SLC26A4 mutations Pendredův syndrom mezi pacienty s kongenitální hypotyreózou detekovaný při novorozeneckém screeningu: identifikace dvou nových mutací (cs) Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: identification of two novel PDS/SLC26A4 mutations (en)
skos:prefLabel	Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: identification of two novel PDS/SLC26A4 mutations Pendredův syndrom mezi pacienty s kongenitální hypotyreózou detekovaný při novorozeneckém screeningu: identifikace dvou nových mutací (cs) Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: identification of two novel PDS/SLC26A4 mutations (en)
skos:notation	RIV/00064203:_____/08:4018!RIV09-MSM-00064203
http://linked.open...avai/riv/aktivita	Z
http://linked.open...avai/riv/aktivity	Z(MSM0021620814)
http://linked.open...iv/cisloPeriodika	7
http://linked.open...vai/riv/dodaniDat	2009
http://linked.open...aciTvurceVysledku	Lebl, Jan Cinek, Ondřej Pourová, Radka Banghová, Karolína
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	Fakultní nemocnice v Motole
http://linked.open...dnocenehoVysledku	386192
http://linked.open...ai/riv/idVysledku	RIV/00064203:_____/08:4018
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	congenital hypothyroidism; PDS; SLC26A4; pendrin; sensorineural hearing loss; sensorineural hearing-loss; pds gene; deafness; goiter; ear; association; families; spectrum; protein; iodide (en)
http://linked.open.../riv/klicoveSlovo	sensorineural hearing loss iodide association protein families deafness congenital hypothyroidism sensorineural hearing-loss spectrum PDS ear SLC26A4 goiter pds gene pendrin
http://linked.open...odStatuVydavatele	DE - Spolková republika Německo
http://linked.open...ontrolniKodProRIV	[C988ECDC230C]
http://linked.open...i/riv/nazevZdroje	European Journal of Pediatrics
http://linked.open...in/vavai/riv/obor	FG
http://linked.open...ichTvurcuVysledku	4 (xsd:int)
http://linked.open...cetTvurcuVysledku	8 (xsd:int)
http://linked.open...UplatneniVysledku	2008
http://linked.open...v/svazekPeriodika	167
http://linked.open...iv/tvurceVysledku	Cinek, Ondřej Lebl, Jan Pourová, Radka Banghová, Karolína
http://linked.open...ain/vavai/riv/wos	000256084900011
http://linked.open...n/vavai/riv/zamer	Prevention, diagnostics and therapy of diabetes mellitus, metabolic and endocrine damage of organism
issn	0340-6199
number of pages	7 (xsd:int)
is http://linked.open...avai/riv/vysledek of	Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: identification of two novel PDS/SLC26A4 mutations Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: identification of two novel PDS/SLC26A4 mutations Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: identification of two novel PDS/SLC26A4 mutations Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: identification of two novel PDS/SLC26A4 mutations

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