Filtros de búsqueda

Lista de obras de

A somatic UBA2 variant preceded ETV6-RUNX1 in the concordant BCP-ALL of monozygotic twins

artículo científico publicado en 2022

AMYCNE: Confident copy number assessment using whole genome sequencing data.

artículo científico publicado en 2018

Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias

artículo científico publicado en 2018

Cytogenetically visible inversions are formed by multiple molecular mechanisms

scientific article published on 09 September 2020

Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome

scientific article published on 13 October 2020

Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization

artículo científico publicado en 2018

Sarek: A portable workflow for whole-genome sequencing analysis of germline and somatic variants

artículo científico publicado en 2020

TIDDIT, an efficient and comprehensive structural variant caller for massive parallel sequencing data.

artículo científico

Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome

artículo científico publicado en 2020

Dominio Público Uruguay está sostenido por:

Acerca de Dominio Público Uruguay

Ayuda