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Precision Health Database


Genomics & Health Impact Scan Database|Search|PHGKB

Reproductive and Child Health

Last data update: Dec 01, 2021. (Total: 43682 Documents since 2012)
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Records 1 - 19 (of 19 Records)

Query Trace: Birth Defects Or Congenital Anomalies[original query]>>Tools/Methods [Product Type]
Catalogue for Transmission Genetics in Arabs (CTGA) Database: Analysing Lebanese Data on Genetic Disorders.
Bizzari Sami et al. Genes 2021 12(10)
Birth Defects Surveillance Toolkit
CDC, January 2021
CHDGKB: a knowledgebase for systematic understanding of genetic variations associated with non-syndromic congenital heart disease.
Yang Lan et al. Database : the journal of biological databases and curation 2020 Jan 2020
Duchenne Muscular Dystrophy Education Series
American Academy of Pediatrics
2019 Digital Toolkit: NATIONAL BIRTH DEFECTS PREVENTION MONTH
The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers.
Gainotti Sabina et al. European journal of human genetics : EJHG 2018 Feb
Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer.
Sernadela Pedro et al. BioMed research international 2017 20178327980
Evidence-based practices on reducing transfusion complications in sickle cell disease
Provider Training Video Series, Georgia Health Policy Center, 2017
eRAM: encyclopedia of rare disease annotations for precision medicine.
Jia Jinmeng et al. Nucleic acids research 2017 Nov
Sickle Cell Disease: What You Should Know
CDC podcast, 2017
Hemophilia Treatment Center (HTC) Directory
Mendel,MD: A user-friendly open-source web tool for analyzing WES and WGS in the diagnosis of patients with Mendelian disorders.
G C C L Cardenas Raony et al. PLoS computational biology 2017 Jun 13(6) e1005520
Molecular diagnostics for hereditary hearing loss in children.
Sommen Manou et al. Expert review of molecular diagnostics 2017 Jun
Massive-scale genomic data sharing to improve rare disease diagnosis
D MacArthur VIDEO presentation, Scripps Institute, Future of Genomic Medicine 2017
ApreciseKUre: an approach of Precision Medicine in a Rare Disease.
Spiga Ottavia et al. BMC medical informatics and decision making 2017 Apr 17(1) 42
DMDtoolkit: a tool for visualizing the mutated dystrophin protein and predicting the clinical severity in DMD.
Zhou Jiapeng et al. BMC bioinformatics 2017 Feb 18(1) 87
Clinical Practice Guidelines for Rare Diseases: The Orphanet Database.
Pavan Sonia et al. PloS one 2017 12(1) e0170365
Findings from the National Birth Defects Prevention Study: Interpretation and translation for the clinician.
Alwan Sura et al. Birth Defects Res. Part A Clin. Mol. Teratol. 2015 Jun 25.
The use of a Toolkit for health needs assessment on neural tube defects in Argentina.
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