About: Improving Diagnoses of Mental Retardation in Children in Eastern Europe and Central Asia through Genetic Characterisation and Bioinformatics/Statistics

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About: Improving Diagnoses of Mental Retardation in Children in Eastern Europe and Central Asia through Genetic Characterisation and Bioinformatics/Statistics Goto Sponge NotDistinct Permalink

An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Projekt, within Data Space : linked.opendata.cz:8890 associated with source document(s)

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rdf:type	http://linked.opendata.cz/ontology/domain/vavai/Projekt
Description	Mental retardation (MR) is a highly heterogeneous disorder and is of genetic origin in about 50% of the cases. Despite recent progress in research the causes and the pathophysiology of MR remains obscure. It is essential to investigate this in order to develop future diagnostic and therapeutic strategies. The overall goal of this proposal is to establish an interdisciplinary Eastern Europe and Central Asia (EECA) consortium of experts with a joint programme of activities to generate knowledge about MR and the structure and dynamics of the brain as such. This project will be the first to study in depth the prevalence and incidence of MR in EECA. The objectives of the CHERISH project are to: - develop a standardized approach for MR diagnosis through clinical workshops and courses; - create a large data-base of patients with clinically well defined MR, both syndromic and non-syndromic; - identify cryptic genomic rearrangements through molecular cytogenetic analysis; - sequence MR genes and analyse the m (en) Mental retardation (MR) is a highly heterogeneous disorder and is of genetic origin in about 50% of the cases. Despite recent progress in research the causes and the pathophysiology of MR remains obscure. It is essential to investigate this in order to develop future diagnostic and therapeutic strategies. The overall goal of this proposal is to establish an interdisciplinary Eastern Europe and Central Asia (EECA) consortium of experts with a joint programme of activities to generate knowledge about MR and the structure and dynamics of the brain as such. This project will be the first to study in depth the prevalence and incidence of MR in EECA. The objectives of the CHERISH project are to: - develop a standardized approach for MR diagnosis through clinical workshops and courses; - create a large data-base of patients with clinically well defined MR, both syndromic and non-syndromic; - identify cryptic genomic rearrangements through molecular cytogenetic analysis; - sequence MR genes and analyse the m (cs)
Title	Improving Diagnoses of Mental Retardation in Children in Eastern Europe and Central Asia through Genetic Characterisation and Bioinformatics/Statistics (en) Improving Diagnoses of Mental Retardation in Children in Eastern Europe and Central Asia through Genetic Characterisation and Bioinformatics/Statistics (cs)
http://linked.open...vai/cislo-smlouvy	http://linked.opendata.cz/resource/domain/vavai/cep/smlouva/1086/2011-321
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http://linked.open...domain/vavai/faze	http://linked.opendata.cz/resource/domain/vavai/cep/faze/54673303
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http://linked.open...n/vavai/kategorie	http://linked.opendata.cz/resource/domain/vavai/cep/kategorie/1
http://linked.open...vai/klicova-slova	Mental retardation; Eastern Europe; Central Asia; Genetics; Genomics; Children; Adolescence (en)
http://linked.open...avai/konec-reseni	2012-01-31 (xsd:date)
http://linked.open...nujicich-prijemcu	0 (xsd:integer)
http://linked.open...avai/poskytovatel	http://linked.opendata.cz/resource/domain/vavai/cep/poskytovatel/MSM
http://linked.open...avai/start-reseni	2009-02-01 (xsd:date)
http://linked.open...ai/statni-podpora	1435 (xsd:integer)
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is http://linked.open...ain/vavai/projekt of	http://linked.opendata.cz/resource/domain/vavai/cep/ucast/2009/7E09041/orjk-11130 http://linked.opendata.cz/resource/domain/vavai/cep/ucast/2010/7E09041/orjk-11130 http://linked.opendata.cz/resource/domain/vavai/cep/ucast/2011/7E09041/orjk-11130 http://linked.opendata.cz/resource/domain/vavai/cep/ucast/2012/7E09041/orjk-11130 http://linked.opendata.cz/resource/domain/vavai/cep/ucast/2013/7E09041/orjk-11130

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