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Nhà nghiên cứu Hồ sơ 5/10

9 công bố · 80 trích dẫn · h-index 4

Thông tin

🏛️Nơi công tác: Bệnh viện Nhi Trung ương
🔬Lĩnh vực: Sinh học
✍️Hồ sơ chưa đầy đủ — bổ sung thông tin

Công bố tiêu biểu

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

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

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

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

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

AB072. Double aneuploidy of Down-Turner syndrome and Down-Klinefelter syndrome: case report and review1 trích dẫn
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

Về lĩnh vực Sinh học

3.752học giả

51.546công bố

942.318trích dẫn

4.1h-index trung bình

Hướng nghiên cứu phổ biến trong lĩnh vực:

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

Nơi có nhiều học giả lĩnh vực này nhất: