Categoría: Articulos
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Targeting protein synthesis control regions may reduce seizures in genetic epilepsy
Targeting the control of protein synthesis in the KCNQ2 gene may serve as a potential disease-modifying strategy for patients with a genetic form of neonatal-onset epilepsy and impaired brain development, according to a Northwestern Medicine study publ…
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Targeting protein synthesis control regions may reduce seizures in genetic epilepsy
Targeting the control of protein synthesis in the KCNQ2 gene may serve as a potential disease-modifying strategy for patients with a genetic form of neonatal-onset epilepsy and impaired brain development, according to a Northwestern Medicine study publ…
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Clinical and genetic profiles of postnatal patients with skeletal dysplasia in Guangxi during 8 years: a single-center experience
Background Results Conclusions Clinical trial number
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Case Report: Differential outcomes associated with the same pathogenic variant: long-term follow-up of a CHARGE syndrome case with a nonsense mutation c.6292C>T in the CHD gene
BackgroundCHARGE syndrome (OMIM #214800) is a rare autosomal dominant multisystem disorder, most commonly attributable to de novo heterozygous loss-of-function pathogenic variants in the CHD7 gene. Pathogenic Pathogenic variants of CHD7 are distributed…
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Clues to longevity may reside in the genomes of long-lived bats
The secret to a long life may lie in the genomes of the longest-lived mammals for their size: bats. That idea captivated Juan Manuel Vazquez when he was a graduate student at the University of Chicago, but at the time he couldn’t find any good publishe…
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Decoding the Genetic and Phenotypic Spectrum of MT‐TI Mitochondrial Diseases
Annals of Human Genetics, EarlyView.
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Decoding the Genetic and Phenotypic Spectrum of MT‐TI Mitochondrial Diseases
Annals of Human Genetics, EarlyView.
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The molecular spectrum of alpha- and beta-thalassemia pathogenic variants in Indonesia: implications for national screening and prevention
Background Methods Results Conclusions …
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The molecular spectrum of alpha- and beta-thalassemia pathogenic variants in Indonesia: implications for national screening and prevention
Background Methods Results Conclusions …
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From amino acids to animal models: MAP2K2 mutations and their role in pathogenesis of CFC4 Syndrome
Background Main body Conclusions Graphical A…