New insights into genetic variant spectrum and genotype–phenotype
Por um escritor misterioso
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Integrating non-mammalian model organisms in the diagnosis of rare genetic diseases in humans
CDKL5 variants Neurology Genetics
Gene-gene and gene-environment interactions: new insights into the prevention, detection and management of coronary artery disease, Genome Medicine
Precision Medicine in Cardiovascular Disease: Genetics and Impact on Phenotypes: JACC Focus Seminar 1/5
Frontiers Genotype-phenotype correlations of marfan syndrome and related fibrillinopathies: Phenomenon and molecular relevance
Phenotypic impact of genomic structural variation: insights from and for human disease
Genes, Free Full-Text
Jonathan Pritchard Lab Research
WGS analysis process, including genotype-driven and phenotype-driven
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Beyond genotype to phenotype: why the phenotype of an individual cannot always be predicted from their genome sequence and the environment that they experience - Burga - 2012 - The FEBS Journal - Wiley Online Library
Genetic insights into the neurobiology of anxiety: Trends in Neurosciences
Genetic associations of protein-coding variants in human disease
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