40 results on '"Ittiwut, Rungnapa"'
Search Results
2. Pathogenic variant detection rate by whole exome sequencing in Thai patients with biopsy-proven focal segmental glomerulosclerosis
3. Exome sequencing as first-tier genetic testing in infantile-onset pharmacoresistant epilepsy: diagnostic yield and treatment impact
4. Genetic basis of sudden death after COVID-19 vaccination in Thailand
5. A germline STAT6 gain-of-function variant is associated with early-onset allergies
6. Novel CD55 Mutation Associated With Severe Small Bowel Ulceration Mimicking Inflammatory Bowel Disease in a Pair of Siblings
7. Genetic variations of type 2 and type 3 von Willebrand diseases in Thailand
8. Trinucleotide repeat expansion in the transcription factor 4 (TCF4) gene in Thai patients with Fuchs endothelial corneal dystrophy
9. Whole exome sequencing for diagnosis of hereditary thrombocytopenia
10. rs11567842 SNP in SLC13A2 gene associates with hypocitraturia in Thai patients with nephrolithiasis
11. A Novel NR5A1 Mutation in a Thai Boy with 46, XY DSD
12. A germline STAT6 gain-of-function variant is associated with early-onset allergies
13. TIGIT Monoallelic Nonsense Variant in Patient with Severe COVID-19 Infection, Thailand
14. Exome sequencing as first-tier genetic testing in infantile-onset pharmacoresistant epilepsy: diagnostic yield and treatment impact
15. Novel mutations in Thai patients with glanzmann thrombasthenia
16. Phenotypic Heterogeneity and Genotypic Spectrum of Inborn Errors of Immunity Identified through Whole Exome Sequencing in a Thai Patient Cohort
17. Phenotypic Heterogeneity and Genotypic Spectrum of Primary Immunodeficiencies with Whole Exome Sequencing in a Thai Patient Cohort
18. Rapid exome sequencing as the first‐tier investigation for diagnosis of acutely and severely ill children and adults in Thailand
19. Novel de novo mutation substantiates ATP6V0C as a gene causing epilepsy with intellectual disability
20. FOXE1 mutations in Thai patients with oral clefts
21. Clinical and molecular characteristics of Thai patients withELANE-related neutropaenia
22. Phenotypic heterogeneity and genotypic spectrum of inborn errors of immunity identified through whole exome sequencing in a Thai patient cohort.
23. Association between polymorphisms in catechol-O-methyltransferase (COMT) and cocaine-induced paranoia in European-American and African-American populations
24. A novel deletion in the fibrinogen beta chain (FGB) gene causing hypofibrinogenemia
25. Clinical and molecular characteristics of Thai patients with ELANE-related neutropaenia
26. Trinucleotide repeat expansion in the transcription factor 4 (TCF4) gene in Thai patients with Fuchs endothelial corneal dystrophy
27. Identification and Functional Analysis of Six DAX1 Mutations in Patients With X-Linked Adrenal Hypoplasia Congenita
28. The phenotypic and mutational spectrum of Thai female patients with ornithine transcarbamylase deficiency
29. Mutations in Kinesin family member 6 reveal specific role in ependymal cell ciliogenesis and human neurological development
30. A Novel NR5A1 Mutation in a Thai Boy with 46, XY DSD
31. Mutations in Kinesin Family Member 6 Reveal Specific Role in Ependymal Cell Function and Human Neuro-Cranial Development
32. Novel Mutations, Including a Large Deletion in theARSBGene, Causing Mucopolysaccharidosis Type VI
33. Identification and Functional Analysis of Six DAX1 Mutations in Patients With X-Linked Adrenal Hypoplasia Congenita.
34. Epidemiology of cleft lip with or without cleft palate in Thais
35. Variants of the CDH1 (E-Cadherin) Gene Associated with Oral Clefts in the Thai Population
36. Novel Mutations, Including a Large Deletion in the ARSB Gene, Causing Mucopolysaccharidosis Type VI.
37. Epidemiology of cleft lip with or without cleft palate in Thais
38. Novel PLEC variants associated with infantile cholestasis.
39. Polymorphism of COMT Val158Met is associated with inhalant use and dependence: a Thai substance dependence treatment cohort
40. F8 variants and their genotype-phenotype correlations in Thai patients with haemophilia A: a nationwide multicentre study.
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.