Rezultaty - Andrew D. Phillips
- Rezultaty 1 - 7 Rezultaty od 7
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1
The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine od Peter D. Stenson, Matthew Mort, Edward V. Ball, Katy Shaw, Andrew D. Phillips, D.N. Cooper
Wydane 2013Revisão -
2
The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalised genomics od Peter D. Stenson, Edward V. Ball, Katy Howells, Andrew D. Phillips, Matthew Mort, D.N. Cooper
Wydane 2009Editorial -
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4
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies od Peter D. Stenson, Matthew Mort, Edward V. Ball, Katy Evans, Matthew Hayden, Sally Heywood, Michelle Hussain, Andrew D. Phillips, D.N. Cooper
Wydane 2017Revisão -
5
Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics od D.N. Cooper, Jian‐Min Chen, Edward V. Ball, Katy Howells, Matthew Mort, Andrew D. Phillips, Nadia Chuzhanova, Michael Krawczak, Hildegard Kehrer‐Sawatzki, Peter D. Stenson
Wydane 2010Revisão -
6
The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting od Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luı́sa Azevedo, Matthew Hayden, Sally Heywood, David Millar, Andrew D. Phillips, D.N. Cooper
Wydane 2020Revisão -
7
Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing od Yali Xue, Yuan Chen, Qasim Ayub, Ni Huang, Edward V. Ball, Matthew Mort, Andrew D. Phillips, Katy Shaw, Peter D. Stenson, D.N. Cooper, Chris Tyler‐Smith
Wydane 2012Artigo
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Podobne hasła
Biology
Computational biology
Gene
Genetics
Mutation
Computer science
Database
Human genetics
Genome
Gene mutation
Genomics
Germline mutation
Medicine
Bioinformatics
Disease
Human genome
Pathology
1000 Genomes Project
Allele
Annotation
Environmental health
Genotype
Germline
Missense mutation
Personalized medicine
Population
Single-nucleotide polymorphism