Filtros de búsqueda

Lista de obras de

Application of SNP array method in prenatal diagnosis

artículo científico publicado en 2011

Genome-wide uniparental diploidy of all paternal chromosomes in an 11-year-old girl with deafness and without malignancy.

artículo científico publicado en 2018

IPSC-Derived Corneal Endothelial-like Cells Act as an Appropriate Model System to Assess the Impact of SLC4A11 Variants on Pre-mRNA Splicing

artículo científico publicado en 2019

OmniPlex--a new QF-PCR assay for prenatal diagnosis of common aneuploidies based on evaluation of the heterozygosity of short tandem repeat loci in the Czech population.

artículo científico publicado en 2008

Parental gonadal but not somatic mosaicism leading to de novo NFIX variants shared by two brothers with Malan syndrome

artículo científico publicado en 2019

Preimplantation genetic diagnosis of X-linked Charcot-Marie-Tooth disease by indirect linkage analysis.

artículo científico publicado en 2017

Preimplantation genetic diagnosis of X-linked diseases examined by indirect linkage analysis.

artículo científico publicado en 2015

Primary capillary hemangioblastoma of peripheral soft tissues

artículo científico publicado en 2004

Reactive syringofibroadenomatous hyperplasia in peristomal skin with formation of hybrid epidermal-colonic mucosa glandular structures, intraepidermal areas of sebaceous differentiation, induction of hair follicles, and features of human papillomavi

artículo científico publicado en 2005

SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia

artículo científico publicado en 2016

Targeted treatment of metastatic melanoma in a drug-addicted patient with pre-existing hepatitis C

scientific article published on 13 December 2018

[Frequency view on genome changes testing]

scientific article published on 01 January 2006

[Implementation of arrays in first trimester prenatal diagnosis].

artículo científico publicado en 2015

Dominio Público Uruguay está sostenido por:

Acerca de Dominio Público Uruguay

Ayuda