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A novel 154-bp deletion in the human mitochondrial DNA control region in healthy individuals

scientific article published on December 2008

Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C.

artículo científico publicado en 2016

Exome sequencing identified a novel de novo OPA1 mutation in a consanguineous family presenting with optic atrophy.

artículo científico publicado en 2016

Exome sequencing identified mutations in CASK and MYBPC3 as the cause of a complex dilated cardiomyopathy phenotype.

artículo científico publicado en 2016

Genome-wide linkage and positional candidate gene study of blood pressure response to dietary potassium intervention: the genetic epidemiology network of salt sensitivity study

artículo científico publicado en 2010

Identification of a novel mutation in the PNLIP gene in two brothers with congenital pancreatic lipase deficiency

artículo científico publicado en 2013

Intellectual disability and non-compaction cardiomyopathy with a de novo NONO mutation identified by exome sequencing

artículo científico publicado en 2016

Mutations in TAX1BP3 cause dilated cardiomyopathy with septo-optic dysplasia

artículo científico publicado en 2015

Nationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening.

artículo científico publicado en 2017

The genetic variation in the R1a clade among the Ashkenazi Levites' Y chromosome

artículo científico publicado en 2017

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