Heloisa B. Pena
Belo Horizonte, MG, Brazil
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 9 publications
A Protocol for Preconceptional Screening of Consanguineous Couples Using Whole Exome Sequencing.
Journal: Frontiers in genetics
Published: March 24, 2021
"Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis (Linhares et al., 2014)" turns out to be EBV+ leiomyomatosis caused by CARMIL2 mutations.
Journal: European journal of medical genetics
Published: February 11, 2017
1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency.
Journal: Genetics and molecular biology
Published: February 29, 2016
A multiplex panel of short-amplicon insertion-deletion DNA polymorphisms for forensic analysis.
Journal: Genetics and molecular research : GMR
Published: May 13, 2015
Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis.
Journal: European journal of medical genetics
Published: February 22, 2014
Accurate, fast and cost-effective diagnostic test for monosomy 1p36 using real-time quantitative PCR.
Journal: Disease markers
Published: December 30, 2013
Simple, rapid and inexpensive quantitative fluorescent PCR method for detection of microdeletion and microduplication syndromes.
Journal: PloS one
Published: November 09, 2012
Automated Genotyping of a Highly Informative Panel of 40 Short Insertion-Deletion Polymorphisms Resolved in Polyacrylamide Gels for Forensic Identification and Kinship Analysis.
Journal: Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie
Published: December 08, 2011
Showing 1-9 of 9
Last Updated: 09/26/2026