New insights into genetic variant spectrum and genotype–phenotype
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Last updated 26 outubro 2024
A Genotype-First Approach to Defining the Subtypes of a Complex Disease: Cell
Association between genetic predisposition and disease burden of stroke in China: a genetic epidemiological study - The Lancet Regional Health – Western Pacific
Genes, Free Full-Text
Insights into the genetic architecture of EE/DEE. Summary of the
Establishing an objective clinical spectrum, genotype-phenotype correlations, and CRMP1 as a modifier in the Ellis-van Creveld syndrome: The first systematic review of EVC- and EVC2-associated conditions - Genetics in Medicine Open
Genotype–phenotype associations in children with copy number variants associated with high neuropsychiatric risk in the UK (IMAGINE-ID): a case-control cohort study - The Lancet Psychiatry
Frontiers Genetic Characteristics and Variation Spectrum of USH2A-Related Retinitis Pigmentosa and Usher Syndrome
WGS analysis process, including genotype-driven and phenotype-driven
Genetic basis of mitochondrial diseases - Gusic - 2021 - FEBS Letters - Wiley Online Library
The pancreatic β cell: recent insights from human genetics: Trends in Endocrinology & Metabolism
Frontiers Genotype-phenotype correlations of marfan syndrome and related fibrillinopathies: Phenomenon and molecular relevance
JPM, Free Full-Text
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes
Genotype-structure-phenotype relationships diverge in paralogs ATP1A1, ATP1A2, and ATP1A3
FinnGen provides genetic insights from a well-phenotyped isolated population
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