FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide. - Wikidata - wikimedia - TriplyDB

FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide.

FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide.

http://www.wikidata.org/entity/Q35537110

about

Developments in FINDbase worldwide database for clinically relevant genomic variation allele frequencies FINDbase: a worldwide database for genetic variation allele frequencies updated Indian genetic disease database Online biomedical resources for malaria-related red cell disorders Microattribution and nanopublication as means to incentivize the placement of human genome variation data into the public domain Variation Ontology for annotation of variation effects and mechanisms Expanded national database collection and data coverage in the FINDbase worldwide database for clinically relevant genomic variation allele frequencies.Recommendations for genetic variation data capture in developing countries to ensure a comprehensive worldwide data collection.Screening for beta thalassaemia A new scientific journal linked to a genetic database: towards a novel publication modality ALFRED: an allele frequency resource for research and teaching.ETHNOS : A versatile electronic tool for the development and curation of national genetic databases.An overview of current microarray-based human globin gene mutation detection methods.The Hellenic type of nondeletional hereditary persistence of fetal hemoglobin results from a novel mutation (g.-109G>T) in the HBG2 gene promoter.Institutional Profile: Golden Helix Institute of Biomedical Research: interdisciplinary research and educational activities in pharmacogenomics and personalized medicine.A1ATVar: a relational database of human SERPINA1 gene variants leading to alpha1-antitrypsin deficiency and application of the VariVis software.An electronic infrastructure for research and treatment of the thalassemias and other hemoglobinopathies: the Euro-mediterranean ITHANET project.An unusually frequent beta-thalassemia mutation in an Iranian Province.'Reflex' HPLC testing as a screening modality for variant hemoglobins: a pilot study of 1310 cases at a pediatric referral hospital.Planning the human variome project: the Spain report.A set of novel mining tools for efficient biological knowledge discovery Population-specific documentation of pharmacogenomic markers and their allelic frequencies in FINDbase

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P2860

FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide.

http://www.wikidata.org/entity/Q35537110

description

2006 nî lūn-bûn

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2006 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

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2006 թվականի նոյեմբերին հրատարակված գիտական հոդված

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2006年の論文

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2006年論文

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2006年論文

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2006年論文

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2006年論文

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FINDbase: a relational databas ...... inherited disorders worldwide.

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FINDbase: a relational databas ...... inherited disorders worldwide.

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Daphne Koumbi

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Francesca Riccardino

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George P Patrinos

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Harry Cuppens

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Manyphong Phommarinh

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Milan Macek

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Sjozef van Baal

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P2860

Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders

Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening

GeneTests-GeneClinics: genetic testing information for a growing audience.

Time for a unified system of mutation description and reporting: a review of locus-specific mutation databases.

Human genetics: lessons from Quebec populations.

Population history and its impact on medical genetics in Quebec.

Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies

PAHdb 2003: what a locus-specific knowledgebase can do.

The challenge of documenting mutation across the genome: the human genome variation society approach.

DNA, diseases and databases: disastrously deficient.

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35

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Charles Scriver

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