About: Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability

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About: Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability 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	Nijmegen breakage syndrom (NBS) s neurologickými abnormalitami (cs) Background: Nijmegen breakage syndrome (NBS) is an autosomal recessive chromosomal instability disorder with hypersensitivity to ionising radiation. The clinical phenotype is characterised by congenital microcephaly, mild dysmorphic facial appearance Background: Nijmegen breakage syndrome (NBS) is an autosomal recessive chromosomal instability disorder with hypersensitivity to ionising radiation. The clinical phenotype is characterised by congenital microcephaly, mild dysmorphic facial appearance (en)
Title	Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability Nijmegen breakage syndrom (NBS) s neurologickými abnormalitami a bez chromosomální aberace (cs) Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability (en)
skos:prefLabel	Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability Nijmegen breakage syndrom (NBS) s neurologickými abnormalitami a bez chromosomální aberace (cs) Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability (en)
skos:notation	RIV/00216208:11130/06:69!RIV07-MZ0-11130___
http://linked.open.../vavai/riv/strany	218-224
http://linked.open...avai/riv/aktivita	P
http://linked.open...avai/riv/aktivity	P(NR7916)
http://linked.open...iv/cisloPeriodika	3
http://linked.open...vai/riv/dodaniDat	2007
http://linked.open...aciTvurceVysledku	Seeman, Pavel 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	488691
http://linked.open...ai/riv/idVysledku	RIV/00216208:11130/06:69
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	SYNDROME GENE NBS1; ATM-DEPENDENT PHOSPHORYLATION; ACUTE LYMPHOBLASTIC-LEUKEMIA; DNA-DAMAGE RESPONSE; CANCER-RISK; MUTATIONS; PROTEIN; HETEROZYGOTES; ACTIVATION; NIBRIN (en)
http://linked.open.../riv/klicoveSlovo	PROTEIN ACTIVATION ATM-DEPENDENT PHOSPHORYLATION CANCER-RISK HETEROZYGOTES NIBRIN SYNDROME GENE NBS1 MUTATIONS DNA-DAMAGE RESPONSE ACUTE LYMPHOBLASTIC-LEUKEMIA
http://linked.open...odStatuVydavatele	GB - Spojené království Velké Británie a Severního Irska
http://linked.open...ontrolniKodProRIV	[5BE851EDD0AE]
http://linked.open...i/riv/nazevZdroje	Journal of Medical Genetics
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	2 (xsd:int)
http://linked.open...cetTvurcuVysledku	9 (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	43
http://linked.open...iv/tvurceVysledku	Seemanová, Eva Seeman, Pavel
issn	0022-2593
number of pages	7 (xsd:int)
http://localhost/t...ganizacniJednotka	11130

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