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22 results on '"Chetruengchai W"'

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1. A first update on mapping the human genetic architecture of COVID-19

2. Whole-genome sequencing reveals host factors underlying critical COVID-19

3. Whole genome sequencing reveals host factors underlying critical Covid-19

4. Whole genome sequencing identifies a homozygous nonsense mutation in the JPH2 gene in Shih Tzu dogs with progressive retinal atrophy

5. De novo genome assembly and transcriptome sequencing in foot and mantle tissues of Megaustenia siamensis reveals components of adhesive substances.

6. Unraveling the molecular diagnosis of metaphyseal enchondromatosis with D-2-hydroxyglutaric aciduria: A 22-year quest.

7. Prevalence and clinical outcomes of germline variants among patients with myeloid neoplasms.

8. Comprehensive genome assembly reveals genetic diversity and carcass consumption insights in critically endangered Asian king vultures.

9. Carrier frequency estimation of pathogenic variants of autosomal recessive and X-linked recessive mendelian disorders using exome sequencing data in 1,642 Thais.

10. HLA-B*46:01:01:01 and HLA-DRB1*09:01:02:01 are associated with anti-rHuEPO-induced pure red cell aplasia.

11. Comparative genomics and genome-wide SNPs of endangered Eld's deer provide breeder selection for inbreeding avoidance.

12. Exome sequencing as first-tier genetic testing in infantile-onset pharmacoresistant epilepsy: diagnostic yield and treatment impact.

13. Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.

14. A LILRB1 variant with a decreased ability to phosphorylate SHP-1 leads to autoimmune diseases.

15. Actionable secondary findings in the 73 ACMG-recommended genes in 1559 Thai exomes.

16. Genotypic and phenotypic landscapes of 51 pharmacogenes derived from whole-genome sequencing in a Thai population.

17. The Thai reference exome (T-REx) variant database.

18. Severe neonatal haemolytic anaemia caused by compound heterozygous KLF1 mutations: report of four families and literature review.

19. Rapid exome sequencing as the first-tier investigation for diagnosis of acutely and severely ill children and adults in Thailand.

20. A Pathogenic Variant in ALPK3 Is Associated With an Autosomal Dominant Adult-onset Hypertrophic Cardiomyopathy.

21. Expanding phenotypic and mutational spectra of mitochondrial HMG-CoA synthase deficiency.

22. Phenotypic and Genotypic Features of Thai Patients With Nonsyndromic Tooth Agenesis and WNT10A Variants.

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