Lista de obras - Seema Mital - Dominio Público Uruguay

A randomized clinical trial of age and genotype-guided tacrolimus dosing after pediatric solid organ transplantation

artículo científico publicado en 2018

Abnormal fetal cerebral and vascular development in hypoplastic left heart syndrome

artículo científico publicado en 2018

Clinical research careers: reports from a NHLBI pediatric heart network clinical research skills development conference

artículo científico publicado en 2011

Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries

scientific article published on 10 December 2021

Comparison of shunt types in the Norwood procedure for single-ventricle lesions

artículo científico publicado en 2010

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.

artículo científico publicado en 2017

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

artículo científico publicado en 2016

Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect.

artículo científico publicado en 2015

Family screening for hypertrophic cardiomyopathy: Is it time to change practice guidelines?

artículo científico publicado en 2019

Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot

scientific journal article

Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16.

artículo científico publicado en 2013

Quality of whole genome sequencing from blood versus saliva derived DNA in cardiac patients

scientific article published on 29 January 2020

ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm

artículo científico publicado en 2018

Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans.

artículo científico publicado en 2014

Return of genetic and genomic research findings: experience of a pediatric biorepository

artículo científico publicado en 2019

Utility of genetics for risk stratification in pediatric hypertrophic cardiomyopathy

artículo científico publicado en 2017

Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy

artículo científico publicado en 2022

Lista de obras de Seema Mital

A randomized clinical trial of age and genotype-guided tacrolimus dosing after pediatric solid organ transplantation

Abnormal fetal cerebral and vascular development in hypoplastic left heart syndrome

Clinical research careers: reports from a NHLBI pediatric heart network clinical research skills development conference

Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries

Comparison of shunt types in the Norwood procedure for single-ventricle lesions

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect.

Family screening for hypertrophic cardiomyopathy: Is it time to change practice guidelines?

Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot

Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16.

Quality of whole genome sequencing from blood versus saliva derived DNA in cardiac patients

ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm

Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans.

Return of genetic and genomic research findings: experience of a pediatric biorepository

Utility of genetics for risk stratification in pediatric hypertrophic cardiomyopathy

Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy