Categoría: Articulos
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One million exomes identify FNIP1 as a metabolic brake
Exome sequencing of more than 1 million people uncovered dozens of genes linked to the biomarker of the body’s energy state (Hindy et al.). Rare loss-of-function variants in FNIP1, a suppressor of mitochondrial energy expenditure, were associated with …
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DNA sequencing test finds answers for patients with inherited muscle disease
A test developed by researchers at the Garvan Institute of Medical Research has identified the genetic cause of inherited muscle disease in people who remained without answers after years, sometimes decades, of standard testing. It is the first test of…
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DNA sequencing test finds answers for patients with inherited muscle disease
A test developed by researchers at the Garvan Institute of Medical Research has identified the genetic cause of inherited muscle disease in people who remained without answers after years, sometimes decades, of standard testing. It is the first test of…
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Clonal Relatedness Index – Practical and Reliable Tool for Establishing Clonal Relatedness in Gastrointestinal, Hepatopancreaticobiliary and Peritoneal Carcinomas
While accepted as gold standard, conventional morphology and immunohistochemistry-based methods of determining clonal relatedness between two neoplasms are inconclusive in a subset of patients. Though NGS data can be used for this purpose, this approac…
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Socioeconomic status and resilient coping in rare disease patients: the chain-mediating roles of social support and family resilience
Background Methods Results Conclusions …
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Socioeconomic status and resilient coping in rare disease patients: the chain-mediating roles of social support and family resilience
Background Methods Results Conclusions …
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Case Report: Co-occurrence of Wilson disease and tuberous sclerosis complex in a Chinese patient
BackgroundWilson disease (WD) and tuberous sclerosis complex (TSC) are rare genetic disorders with distinct pathophysiologies. Their co-occurrence has not been previously reported. When atypical clinical features emerge in a patient with an established…
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Interdisciplinary management and genetic evaluation of pediatric cancer predisposition syndromes: a retrospective cohort study
European Journal of Human Genetics, Published online: 25 September 2026; doi:10.1038/s41431-026-02244-1Interdisciplinary management and genetic evaluation of pediatric cancer predisposition syndromes: a retrospective cohort study