About: Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome

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About: Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome 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)

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	Cardio-facio-cutaneous (CFC) and Costello syndrome (CS) are congenital disorders with a significant clinical overlap. Cardio-facio-cutaneous (CFC) and Costello syndrome (CS) are congenital disorders with a significant clinical overlap. (en) Cardio-facio-cutaneous (CFC) a Costello syndrom (CS) jsou vrozené poruchy s významným klinickým překryvem. (cs)
Title	Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome (en) Mutace a fenotypické spektrum pacientů s cardio-facio-cutaneous a Costello syndromem. (cs)
skos:prefLabel	Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome (en) Mutace a fenotypické spektrum pacientů s cardio-facio-cutaneous a Costello syndromem. (cs)
skos:notation	RIV/00064203:_____/08:4567!RIV09-MZ0-00064203
http://linked.open...avai/riv/aktivita	V
http://linked.open...avai/riv/aktivity	V
http://linked.open...iv/cisloPeriodika	1
http://linked.open...vai/riv/dodaniDat	2009
http://linked.open...aciTvurceVysledku	Seemanová, Eva
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	381268
http://linked.open...ai/riv/idVysledku	RIV/00064203:_____/08:4567
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	B-RAF; CFC; CS; MEK1; MEK2; oncogene; RAS (en)
http://linked.open.../riv/klicoveSlovo	CS RAS oncogene CFC B-RAF MEK1 MEK2
http://linked.open...odStatuVydavatele	DK - Dánské království
http://linked.open...ontrolniKodProRIV	[6BF762E9C6CC]
http://linked.open...i/riv/nazevZdroje	Clinical Genetics
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	1 (xsd:int)
http://linked.open...cetTvurcuVysledku	27 (xsd:int)
http://linked.open...UplatneniVysledku	2008
http://linked.open...v/svazekPeriodika	73
http://linked.open...iv/tvurceVysledku	Seemanová, Eva
http://linked.open...ain/vavai/riv/wos	000251627800010
issn	0009-9163
number of pages	9 (xsd:int)

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