About: Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome

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About: Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius 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	Trombocytopenie (cs) Thrombocytopenia-absent radius (TAR) syndrome is characterized by hypomegakaryocytic thrombocytopenia and bilateral radial aplasia in the presence of both thumbs. Thrombocytopenia-absent radius (TAR) syndrome is characterized by hypomegakaryocytic thrombocytopenia and bilateral radial aplasia in the presence of both thumbs. (en)
Title	Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome (en) Komplex (cs)
skos:prefLabel	Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome (en) Komplex (cs)
skos:notation	RIV/00216208:11130/07:2927!RIV08-MSM-11130___
http://linked.open.../vavai/riv/strany	232-240
http://linked.open...avai/riv/aktivita	V
http://linked.open...avai/riv/aktivity	V
http://linked.open...iv/cisloPeriodika	2
http://linked.open...vai/riv/dodaniDat	2008
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	414520
http://linked.open...ai/riv/idVysledku	RIV/00216208:11130/07:2927
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	COMPARATIVE GENOMIC HYBRIDIZATION; TAR SYNDROME; CONGENITAL THROMBOCYTOPENIA; ROBERTS-SYNDROME; GENE FAMILY; C-MPL; THROMBOPOIETIN; EXPRESSION; DACTYLAPLASIA; CHROMOSOME-1 (en)
http://linked.open.../riv/klicoveSlovo	EXPRESSION C-MPL CHROMOSOME-1 COMPARATIVE GENOMIC HYBRIDIZATION CONGENITAL THROMBOCYTOPENIA DACTYLAPLASIA ROBERTS-SYNDROME TAR SYNDROME THROMBOPOIETIN GENE FAMILY
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[C9BCF0E4574A]
http://linked.open...i/riv/nazevZdroje	American Journal of Human Genetics
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	1 (xsd:int)
http://linked.open...cetTvurcuVysledku	18 (xsd:int)
http://linked.open...UplatneniVysledku	2007
http://linked.open...v/svazekPeriodika	80
http://linked.open...iv/tvurceVysledku	Seemanová, Eva
issn	0002-9297
number of pages	9 (xsd:int)
http://localhost/t...ganizacniJednotka	11130
is http://linked.open...avai/riv/vysledek of	Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome

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