14 results on '"Ngo Diem Ngoc"'
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2. Clinical and genetic features of congenital bile acid synthesis defect with a novel mutation in AKR1D1 gene sequencing
3. Identification of a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia patients implicates ciliary dysfunction as a novel disease mechanism
4. Identification of a Wide Spectrum of Ciliary Gene Mutations in Nonsyndromic Biliary Atresia Patients Implicates Ciliary Dysfunction as a Novel Disease Mechanism
5. Application of Biotechnology in Detection ATP7B Gene Mutation in Vietnamese Children with Wilson Disease and Screening Target Mutation for Their Family Members
6. Whole exome sequencing reveals a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia
7. Distal duplication of chromosome 16q22.1q23.1 in a Vietnamese patient with midface hypoplasia and intellectual disability
8. 11β-Hydroxylase deficiency detected by urine steroid metabolome profiling using gas chromatography-mass spectrometry
9. AB095. Prenatal diagnosis of Duchenne muscular dystrophy by combining of multiplex Polymerase Chain Reaction and Multiplex Ligation dependent Probe Amplification
10. AB131. Case report: a couple having a child affected with beta thalassemia major and another child with hydrops fetalis
11. A novel homozygous mutation IVS6+5G>T in CYP11B1 gene in a Vietnamese patient with 11β-hydroxylase deficiency
12. Targeted Next-Generation Sequencing on Hirschsprung Disease: A Pilot Study Exploits DNA Pooling
13. Screening of the RET gene of Vietnamese Hirschsprung patients identifies 2 novel missense mutations
14. RET Mutational Spectrum in Hirschsprung Disease: Evaluation of 601 Chinese Patients
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