297 results on '"Wattanasirichaigoon, Duangrurdee"'
Search Results
2. A novel TCN2 mutation with unusual clinical manifestations of hemolytic crisis and unexplained metabolic acidosis: expanding the genotype and phenotype of transcobalamin II deficiency
3. A novel AP1S2 variant causing leaky splicing in X‐linked intellectual disability: Further delineation and intrafamilial variability.
4. Report of clinical presentations and two novel mutations in patients with Wiskott-Aldrich Syndrome/X-linked thrombocytopenia
5. Gaucher disease: clinical phenotypes and refining GBA mutational spectrum in Thai patients
6. Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients
7. Perspectives of adults with Klinefelter syndrome, unaffected adolescent males, and parents of affected children toward diagnosis disclosure: a Thai experience
8. Identification of Gene Mutations in Primary Pediatric Cardiomyopathy by Whole Exome Sequencing
9. Establishment of MUi030-A: A human induced pluripotent stem cell line carrying homozygous L444P mutation in the GBA1 gene to study type-3 Gaucher disease
10. Case report: Severe nonketotic hyperglycinemia in a neonate without apparent seizures but concomitant cleft palate and cerebral sinovenous thrombosis
11. Parental Awareness, Knowledge, and Attitudes Regarding Current and Future Newborn Bloodspot Screening: The First Report from Thailand
12. MITF variants cause nonsyndromic sensorineural hearing loss with autosomal recessive inheritance
13. Growth charts for Thai children with Prader-Willi syndrome aged 0–18 years
14. Mutations in the Nebulin Gene Associated with Autosomal Recessive Nemaline Myopathy
15. Enhancing Equitable Access to Rare Disease Diagnosis and Treatment around the World: A Review of Evidence, Policies, and Challenges
16. Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand
17. Comprehensive and long‐term outcomes of enzyme replacement therapy followed by stem cell transplantation in children with Gaucher disease type 1 and 3
18. Effects of gentamicin inducing readthrough premature stop Codons: A study of alpha-L-iduronidase nonsense variants in COS-7 Cells
19. Correction to: Perspectives of adults with Klinefelter syndrome, unaffected adolescent males, and parents of affected children toward diagnosis disclosure: a Thai experience
20. Identification of Alpha Thalassemia, RNF 213 p.R4810K and PROC p.R189W among Children with Moyamoya Disease/Syndrome
21. Association of Mitochondrial DNA Polymorphisms With Pediatric-Onset Cyclic Vomiting Syndrome
22. 5′UTR Repeat Polymorphisms of the BMPR2 gene in Children with Pulmonary Hypertension associated with Congenital Heart Disease
23. Epidermolysis Bullosa With Congenital Absence of Skin: Congenital Corneal Cloudiness and Esophagogastric Obstruction Including Extended Genotypic Spectrum of PLEC, LAMC2, ITGB4 and COL7A1
24. 1q21.3 Deletion Involving GATAD2B: An Emerging Recurrent Microdeletion Syndrome
25. Comprehensive and long‐term outcomes of enzyme replacement therapy followed by stem cell transplantation in children with Gaucher disease type 1 and 3.
26. A generation of human induced pluripotent stem cell line (MUi031-A) from a type-3 Gaucher disease patient carrying homozygous mutation on GBA1 gene
27. A Novel Homozygous PKP2 Variant in Severe Neonatal Non-compaction and Concomitant Ventricular Septal Defect: A Case Report
28. The Utilization of MS-MLPA as the First-Line Test for the Diagnosis of Prader–Willi Syndrome in Thai Patients
29. Report of clinical presentations and two novel mutations in patients with Wiskott-Aldrich syndrome/X-linked Thrombocytopenia
30. Compound Heterozygote of Point Mutation and Chromosomal Microdeletion Involving OTUD6B Coinciding with ZMIZ1 Variant in Syndromic Intellectual Disability
31. Gaucher disease: clinical phenotypes and refining GBA mutational spectrum in Thai patients
32. Successful haploidentical hematopoietic stem cell transplantation with post-transplant cyclophosphamide in a child with X-linked chronic granulomatous disease: A first report in Asia.
33. Prediction of the functional effect of novel SLC25A13 variants using a S. cerevisiae model of AGC2 deficiency
34. Decreasing Activity and Altered Protein Processing of Human Iduronate-2-sulfatase Mutations Demonstrated by Expression in COS7 Cells
35. Additional file 1 of Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients
36. Additional file 1 of Gaucher disease: clinical phenotypes and refining GBA mutational spectrum in Thai patients
37. Haplotypes of IL12B promoter polymorphisms condition susceptibility to severe malaria and functional changes in cytokine levels in Thai adults
38. Report of clinical presentations and two novel mutations in patients with Wiskott-Aldrich syndrome/X-linked Thrombocytopenia.
39. Rapid exome sequencing as the first‐tier investigation for diagnosis of acutely and severely ill children and adults in Thailand
40. Four novel and three recurrent mutations of the BTK gene and pathogenic effects of putative splice mutations
41. Distal Renal Tubular Acidosis Associated With Anion Exchanger 1 Mutations in Children in Thailand
42. Novel SOX10 Mutations in Waardenburg Syndrome: Functional Characterization and Genotype-Phenotype Analysis
43. A new case of maternal lupus-associated chondrodysplasia punctata with extensive spinal anomalies
44. Genotype and age at diagnosis in Thai boys with Duchenne muscular dystrophy (DMD)
45. Successful pregnancy outcome in Herlyn‐Werner‐Wunderlich syndrome with pyocolpos: A case report and literature review
46. Klinefelter Syndrome Mosaicism 46,XX/47,XXY: A New Case and Literature Review
47. Kabuki syndrome with midgut malrotation and hyperinsulinemic hypoglycemia: A rare co‐occurrence from Thailand
48. Genetic Analysis of Peroxisomal Genes Required for Longevity in a Yeast Model of Citrin Deficiency
49. Etiologies, Prognostic Factors, and Outcomes of Pediatric Acute Liver Failure in Thailand
50. Successful parathyroidectomy with intra‐operative parathyroid hormone monitoring in a neonate with severe primary hyperparathyroidism caused by homozygous mutation in CASR gene
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