About: Molecular cloning and analysis of breakpoints on ring chromosome 17 in a patient with autism

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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	Přerušení spojení na kruhovém chromozómu 17 u pacientky s autismem (cs) The breakpoint junction on a ring chromosome 17 in a girl with autism, mental retardation, mild dysmorphism and neurofibromatosis was identified and analysed at the nucleotide level. The breakpoint junction on a ring chromosome 17 in a girl with autism, mental retardation, mild dysmorphism and neurofibromatosis was identified and analysed at the nucleotide level. (en)
Title	Molecular cloning and analysis of breakpoints on ring chromosome 17 in a patient with autism Molekulární klonování a analýza zlomů na kruhovém chromozómu 17 u pacientky s autismem. (cs) Molecular cloning and analysis of breakpoints on ring chromosome 17 in a patient with autism (en)
skos:prefLabel	Molecular cloning and analysis of breakpoints on ring chromosome 17 in a patient with autism Molekulární klonování a analýza zlomů na kruhovém chromozómu 17 u pacientky s autismem. (cs) Molecular cloning and analysis of breakpoints on ring chromosome 17 in a patient with autism (en)
skos:notation	RIV/00216208:11130/08:4141!RIV09-MZ0-11130___
http://linked.open...avai/riv/aktivita	P Z
http://linked.open...avai/riv/aktivity	P(NR9457), Z(MZ0FNM2005)
http://linked.open...iv/cisloPeriodika	1-2
http://linked.open...vai/riv/dodaniDat	2009
http://linked.open...aciTvurceVysledku	Havlovicová, Markéta Sedláček, Zdeněk Vážna, Alžbeta
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	380324
http://linked.open...ai/riv/idVysledku	RIV/00216208:11130/08:4141
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	array CGH; terminal deletion; deletion junction; complex rearrangement; non-homologous end joining; human dystrophin gene; deletion breakpoints; mental-retardation; tourette-syndrome; dieker-syndrome; mechanism; sequence; rearrangements; 17p13.3; region (en)
http://linked.open.../riv/klicoveSlovo	region sequence mental-retardation terminal deletion mechanism rearrangements array CGH 17p13.3 complex rearrangement deletion breakpoints deletion junction dieker-syndrome human dystrophin gene non-homologous end joining tourette-syndrome
http://linked.open...odStatuVydavatele	NL - Nizozemsko
http://linked.open...ontrolniKodProRIV	[84A611D50B0C]
http://linked.open...i/riv/nazevZdroje	Gene
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	3 (xsd:int)
http://linked.open...cetTvurcuVysledku	3 (xsd:int)
http://linked.open...vavai/riv/projekt	Optimising molecular cytogenetic and molecular genetic diagnostics of chromosomal aberrations in patients with mental retardation
http://linked.open...UplatneniVysledku	2008
http://linked.open...v/svazekPeriodika	407
http://linked.open...iv/tvurceVysledku	Sedláček, Zdeněk Havlovicová, Markéta Vážna, Alžbeta
http://linked.open...ain/vavai/riv/wos	000252917700019
http://linked.open...n/vavai/riv/zamer	Zdokonalení časné diagnostiky, prevence a léčby těžkých vrozených vývojových vad a chorob geneticky podmíněných či s genetickou dispozicí v prenatální a postnatální fázi vývoje
issn	0378-1119
number of pages	7 (xsd:int)
http://localhost/t...ganizacniJednotka	11130
is http://linked.open...avai/riv/vysledek of	Molecular cloning and analysis of breakpoints on ring chromosome 17 in a patient with autism Molecular cloning and analysis of breakpoints on ring chromosome 17 in a patient with autism Molecular cloning and analysis of breakpoints on ring chromosome 17 in a patient with autism Molecular cloning and analysis of breakpoints on ring chromosome 17 in a patient with autism

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