Ngoc Diem Ngo

Researcher Profile 5/10

Vietnam National Children's Hospital · Biology

9 publications · 80 citations · h-index 4

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🏛️Affiliation: Vietnam National Children's Hospital
🔬Field: Biology
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Featured publications

Genetic study of congenital bile-duct dilatation identifies de novo and inherited variants in functionally related genes27 citations
BMC Medical Genomics · 2016 · DOI

Uncovering the genetic lesions underlying the most severe form of Hirschsprung disease by whole-genome sequencing25 citations
European Journal of Human Genetics · 2018 · DOI

A random forest-based framework for genotyping and accuracy assessment of copy number variations14 citations
NAR Genomics and Bioinformatics · 2020 · DOI

De novo mutations in Caudal Type Homeo Box transcription Factor 2 (CDX2) in patients with persistent cloaca11 citations
Human Molecular Genetics · 2017 · DOI

AB015. Study on pericentric inversion of chromosome 9 and congenital abnormalities in children2 citations
Annals of Translational Medicine · 2017 · DOI

AB072. Double aneuploidy of Down-Turner syndrome and Down-Klinefelter syndrome: case report and review1 citations
Annals of Translational Medicine · 2017 · DOI

AB113. The first genetic study on congenital choledochal dilatation (CCD) implicates extracellular matrix proteins
PubMed Central · 2015 · DOI

AB111. HBB: c. -78A>G/nt-28(A>G) associated with Cd 26(A-G) HbE, beta thalassemia variant causes thalassemia intermedia
PubMed Central · 2015 · DOI

Clinical and molecular characteristics of simple virilizing congenital adrenal hyperplasia due to 21-hydroxylase deficiency: insight from a tertiary pediatric center in Vietnam
Annals of Pediatric Endocrinology & Metabolism · 2025 · DOI

About the field of Biology

3,752researchers 51,546publications 942,318citations 4.1average h-index

Common research topics in this field:

Genomics and Phylogenetic StudiesPlant-Microbe Interactions and ImmunityPlant tissue culture and regenerationPlant Diversity and EvolutionPlant and animal studiesPlant and Fungal Species Descriptions

Institutions with the most researchers in this field: