About: Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome

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About: Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi 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)

Attributes	Values
rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	Rubinstein-Taybi syndrom (RSTS) je dobře známý (cs) Rubinstein-Taybi syndrome (RSTS) is a well-known autosomal dominant mental retardation syndrome with typical facial and skeletal abnormalities Rubinstein-Taybi syndrome (RSTS) is a well-known autosomal dominant mental retardation syndrome with typical facial and skeletal abnormalities (en)
Title	Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome Důkaz pro nový syndrom sousedních genů, delece chromosomu 16p13.3 neboli těžký Rubinstein- Taybi syndrom (cs) Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome (en)
skos:prefLabel	Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome Důkaz pro nový syndrom sousedních genů, delece chromosomu 16p13.3 neboli těžký Rubinstein- Taybi syndrom (cs) Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome (en)
skos:notation	RIV/00216208:11130/06:145!RIV07-MZ0-11130___
http://linked.open.../vavai/riv/strany	179-186
http://linked.open...avai/riv/aktivita	P
http://linked.open...avai/riv/aktivity	P(NR7916)
http://linked.open...iv/cisloPeriodika	2
http://linked.open...vai/riv/dodaniDat	2007
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	Univerzita Karlova v Praze / 2. lékařská fakulta
http://linked.open...dnocenehoVysledku	474803
http://linked.open...ai/riv/idVysledku	RIV/00216208:11130/06:145
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	SYSTEMIC-LUPUS-ERYTHEMATOSUS; HYPOPLASTIC LEFT-HEART; MUTATIONS; CREBBP; CBP; PROTEIN; CELLS (en)
http://linked.open.../riv/klicoveSlovo	CBP CELLS PROTEIN SYSTEMIC-LUPUS-ERYTHEMATOSUS MUTATIONS CREBBP HYPOPLASTIC LEFT-HEART
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[D624FFB01E73]
http://linked.open...i/riv/nazevZdroje	Human Genetics
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	1 (xsd:int)
http://linked.open...cetTvurcuVysledku	6 (xsd:int)
http://linked.open...vavai/riv/projekt	Molecular basis of congenital microcephaly - using molecular genetics and molecular cytogenetic methods for detection of etiology of different types of microcephaly and evaluation of clinical and genetic prognosis
http://linked.open...UplatneniVysledku	2006
http://linked.open...v/svazekPeriodika	120
http://linked.open...iv/tvurceVysledku	Seemanová, Eva
issn	0340-6717
number of pages	8 (xsd:int)
http://localhost/t...ganizacniJednotka	11130

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