Latest Research

  1. Duodenal Atresia
  2. Duane Retraction Syndrome 2
  3. Idiopathic Alveolar Hypoventilation …
  4. Chromosome 14 Ring
  5. Brachydactyly Type A5 Nail Dysplasia
  6. Hyperinsulinemic Hypoglycemia- Familial …
  7. Deafness- Autosomal Recessive 55
  8. Glucagonoma
  9. Aspartylglycosaminuria
  10. Erythema Nodosum- Familial
  11. Galactokinase Deficiency
  12. Fertile Eunuch Syndrome

Research

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Trichoscyphodysplasia

  1. Metaphyseal chondrodysplasia with cone-shaped epiphyses: a specific form involving the lower limbs.
  2. Dutch variant of Bellini metaphyseal dysplasia: report of two siblings.