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Found 5 result(s)

EyeGENE

The National Ophthalmic Genotyping and Phenotyping Network

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The eyeGENE® Research Resource is open for approved research studies. Application details here Researchers and clinicians are actively developing gene-based therapies to treat ophthalmic genetic diseases that were once considered untreatable.

ALSoD

ALS Online Database

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ALSoD is a freely available database that has been transformed from a single gene storage facility recording mutations in the SOD1 gene to a multigene ALS bioinformatics repository and analytical instrument combining genotype, phenotype, and geographical information with associated analysis tools. These include a comparison tool to evaluate genes side by side or jointly with user configurable features, a pathogenicity prediction tool using a combination of computational approaches to distinguish variants with nonfunctional characteristics from disease-associated mutations with more dangerous consequences, and a credibility tool to enable ALS researchers to objectively assess the evidence for gene causation in ALS. Furthermore, integration of external tools, systems for feedback, annotation by users, and two-way links to collaborators hosting complementary databases further enhance the functionality of ALSoD.

RAMEDIS

Rare Metabolic Diseases Database

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The RAMEDIS system is a platform independent, web-based information system for rare metabolic diseases based on filed case reports. It was developed in close cooperation with clinical partners to allow them to collect information on rare metabolic diseases with extensive details, e.g. about occurring symptoms, laboratory findings, therapy and molecular data.

TRAILS

Tracking Adolescents' Individual Lives Survey

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TRAILS is a prospective cohort study, which started in 2001 with population cohort and 2004 with a clinical cohort (CC). Since then, a group of 2500 young people from the Northern part of the Netherlands has been closely monitored in order to chart and explain their mental, physical, and social development. These TRAILS participants have been measured every two to three years, by means of questionnaires, interviews, and all kinds of tests. By now, we have collected information that spans the total period from preadolescence up until young adulthood. One of the main goals of TRAILS is to contribute to the knowledge of the development of emotional and behavioral problems and the (social) functioning of preadolescents into adulthood, their determinants, and underlying mechanisms.

IMEx

The International Molecular Exchange Consortium

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The IMEx consortium is an international collaboration between a group of major public interaction data providers who have agreed to share curation effort and develop and work to a single set of curation rules when capturing data from both directly deposited interaction data or from publications in peer-reviewed journals, capture full details of an interaction in a “deep” curation model, perform a complete curation of all protein-protein interactions experimentally demonstrated within a publication, make these interaction available in a single search interface on a common website, provide the data in standards compliant download formats, make all IMEx records freely accessible under the Creative Commons Attribution License