All Stories

  1. Novel mutations in SPTA1 and SPTB identified by whole exome sequencing in eight Thai families with hereditary pyropoikilocytosis presenting with severe fetal and neonatal anaemia
  2. Cole-Carpenter syndrome in a patient from Thailand
  3. Novel compound heterozygous mutations in KREMEN1 confirm it as a disease gene for ectodermal dysplasia
  4. Age-Related Reference Intervals for Blood Amino Acids in Thai Pediatric Population Measured by Liquid Chromatography Tandem Mass Spectrometry
  5. Novel mutations in Thai patients with glanzmann thrombasthenia
  6. Monoallelic FGFR3 and Biallelic ALPL mutations in a Thai girl with hypochondroplasia and hypophosphatasia
  7. A novel GJA1 mutation in oculodentodigital dysplasia with extensive loss of enamel
  8. Skin Lesions Associated with Nutritional Management of Maple Syrup Urine Disease
  9. Adaptive immune defects in a patient with leukocyte adhesion deficiency type III with a novel mutation inFERMT3
  10. FOXE1 mutations in Thai patients with oral clefts