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Two mutations in the SBDS gene reveal a diagnosis of Shwachman-Diamond syndrome in a patient with atypical symptoms
María Noel Spangenberg
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Transcriptome-Wide Analysis of microRNA-mRNA Correlations in Tissue Identifies microRNA Targeting Determinants
Juan Manuel Trinidad-Barnech
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Computational and mitochondrial functional studies of novel compound heterozygous variants in SPATA5 gene support a causal link with epileptogenic encephalopathy
Víctor Raggio
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Fibrodysplasia ossificans progressiva in a 3-year-old female patient
Cecilia Moreira
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Transcriptomic analysis of the adaptation to prolonged starvation of the insect-dwelling Trypanosoma cruzi epimastigotes
Pablo Smircich
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Oxytocin system polymorphisms rs237887 and rs2740210 variants increase the risk of depression in pregnant women with early abuse
Daniel Ernesto Olazábal
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X-Chromosome Association Study in Latin American Cohorts Identifies New Loci in Parkinson's Disease
Thiago P Leal
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Insights into the Y chromosome human diversity in Uruguay
Patricia Mut
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Case Report: Mycosis fungoides as an exclusive manifestation of common variable immunodeficiency in a family with a NFKB2 gene mutation
María Noel Spangenberg
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Mitofusin 1 silencing decreases the senescent associated secretory phenotype, promotes immune cell recruitment and delays melanoma tumor growth after chemotherapy
Doménica Tarallo
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Exome Sequencing Reveals Biallelic Mutations in MBTPS1 Gene in a Girl with a Very Rare Skeletal Dysplasia
Víctor Raggio