About: Screening for mutations in transcription factors in a Czech cohort of 170 patients with congenital and early-onset hypothyroidism: identification of a novel PAX8 mutation in dominantly inherited early-onset non-autoimmune hypothyroidism

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About: Screening for mutations in transcription factors in a Czech cohort of 170 patients with congenital and early-onset hypothyroidism: identification of a novel PAX8 mutation in dominantly inherited early-onset non-autoimmune hypothyroidism Goto Sponge NotDistinct Permalink

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	Zpráva o screeningu mutací v transkripčních faktorech u skupiny 170 českých pacientů s kongenitální a časnou postnatální hypotyreózou: objev nové mutace PAX8 v rodině s dominantní dědičností časné non-autoimunitní hypotyreózy (cs) A report on screening for mutations in transcription factors in a Czech cohort of 170 patients with congenital and early-onset hypothyroidism: identification of a novel PAX8 mutation in dominantly inherited early-onset non-autoimmune hypothyroidism A report on screening for mutations in transcription factors in a Czech cohort of 170 patients with congenital and early-onset hypothyroidism: identification of a novel PAX8 mutation in dominantly inherited early-onset non-autoimmune hypothyroidism (en)
Title	Screening for mutations in transcription factors in a Czech cohort of 170 patients with congenital and early-onset hypothyroidism: identification of a novel PAX8 mutation in dominantly inherited early-onset non-autoimmune hypothyroidism Screening for mutations in transcription factors in a Czech cohort of 170 patients with congenital and early-onset hypothyroidism: identification of a novel PAX8 mutation in dominantly inherited early-onset non-autoimmune hypothyroidism (en) Screening mutací v transkripčních faktorech u skupiny 170 českých pacientů s kongenitální a časnou postnatální hypotyreózou: objev nové mutace PAX8 v rodině s dominantní dědičností časné non-autoimunitní hypotyreózy (cs)
skos:prefLabel	Screening for mutations in transcription factors in a Czech cohort of 170 patients with congenital and early-onset hypothyroidism: identification of a novel PAX8 mutation in dominantly inherited early-onset non-autoimmune hypothyroidism Screening for mutations in transcription factors in a Czech cohort of 170 patients with congenital and early-onset hypothyroidism: identification of a novel PAX8 mutation in dominantly inherited early-onset non-autoimmune hypothyroidism (en) Screening mutací v transkripčních faktorech u skupiny 170 českých pacientů s kongenitální a časnou postnatální hypotyreózou: objev nové mutace PAX8 v rodině s dominantní dědičností časné non-autoimunitní hypotyreózy (cs)
skos:notation	RIV/00064203:_____/07:1561!RIV08-MSM-00064203
http://linked.open.../vavai/riv/strany	521-529
http://linked.open...avai/riv/aktivita	V Z
http://linked.open...avai/riv/aktivity	V, Z(MSM0021620814)
http://linked.open...iv/cisloPeriodika	5
http://linked.open...vai/riv/dodaniDat	2008
http://linked.open...aciTvurceVysledku	Lebl, Jan
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	449059
http://linked.open...ai/riv/idVysledku	RIV/00064203:_____/07:1561
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	of-function mutation; thyroid dysgenesis; cleft-palate; molecular-mechanisms; missense mutation; gene; ttf-2; protein; domain; cells (en)
http://linked.open.../riv/klicoveSlovo	gene protein domain cells missense mutation molecular-mechanisms cleft-palate of-function mutation thyroid dysgenesis ttf-2
http://linked.open...odStatuVydavatele	GB - Spojené království Velké Británie a Severního Irska
http://linked.open...ontrolniKodProRIV	[715BD19BF484]
http://linked.open...i/riv/nazevZdroje	European Journal of Endocrinology
http://linked.open...in/vavai/riv/obor	FB
http://linked.open...ichTvurcuVysledku	1 (xsd:int)
http://linked.open...cetTvurcuVysledku	9 (xsd:int)
http://linked.open...UplatneniVysledku	2007
http://linked.open...v/svazekPeriodika	156
http://linked.open...iv/tvurceVysledku	Lebl, Jan
http://linked.open...n/vavai/riv/zamer	Prevention, diagnostics and therapy of diabetes mellitus, metabolic and endocrine damage of organism
issn	0804-4643
number of pages	9 (xsd:int)
is http://linked.open...avai/riv/vysledek of	Screening for mutations in transcription factors in a Czech cohort of 170 patients with congenital and early-onset hypothyroidism: identification of a novel PAX8 mutation in dominantly inherited early-onset non-autoimmune hypothyroidism Screening for mutations in transcription factors in a Czech cohort of 170 patients with congenital and early-onset hypothyroidism: identification of a novel PAX8 mutation in dominantly inherited early-onset non-autoimmune hypothyroidism Screening for mutations in transcription factors in a Czech cohort of 170 patients with congenital and early-onset hypothyroidism: identification of a novel PAX8 mutation in dominantly inherited early-onset non-autoimmune hypothyroidism

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