Filtros de búsqueda

Lista de obras de Justin O Szot

A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data

artículo científico publicado en 2018

Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders

artículo científico publicado en 2019

De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects.

artículo científico publicado en 2017

Functional characterisation of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease

scientific article published on 18 October 2019

Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants

scientific article published on 01 March 2020

Identification of clinically actionable variants from genome sequencing of families with congenital heart disease

scientific article published on 08 October 2018

NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

artículo científico publicado en 2017

Notch4 reveals a novel mechanism regulating Notch signal transduction

scientific journal article

The promises and challenges of exome sequencing in familial, non-syndromic congenital heart disease

artículo científico publicado en 2016

Dominio Público Uruguay está sostenido por:

Acerca de Dominio Público Uruguay

Ayuda