Latest Research

  1. Cystinosis
  2. Epitheliopathy- Acute Posterior …
  3. Glucagonoma
  4. Ghosal Syndrome
  5. Woolly Hair- Hypotrichosis- Everted …
  6. Encephalocele Anterior
  7. Storage Pool Platelet Disease
  8. Nonsyndromic Hereditary Sensorineural …
  9. Corneal Endothelial Dystrophy Type 2
  10. Familial Hyperlipoproteinemia Type 1
  11. N-acetyl-alpha-D-galactosaminidase
  12. Multiple Endocrine Neoplasia- Type 2B

Research

  1. A
  2. B
  3. C
  4. D
  5. E
  6. F
  7. G
  8. H
  9. I
  10. J
  11. K
  12. L
  13. M
  14. N
  15. O
  16. P
  17. Q
  18. R
  19. S
  20. T
  21. U
  22. V
  23. W
  24. X
  25. Y
  26. Z

Oculo cerebro osseous syndrome

  1. The cerebro-oculo-facio-skeletal syndrome.
  2. Oculo-cerebro-cutaneous syndrome: first description in an adult.
  3. Cerebro-oculo-facio-skeletal syndrome in a neonate.
  4. The cerebro-oculo-facio-skeletal syndrome.
  5. Cerebro-oculo-facio-skeletal syndrome: report of two cases from Turkey with postmortem findings.
  6. [Diagnostic criteria of the cerebro-oculo-facio-skeletal syndrome or Pena-Shokeir II syndrome].
  7. Autosomal recessive cerebro-oculo-facio-skeletal (COFS) syndrome.
  8. Intracranial calcifications in cerebro-oculo-facio-skeletal (COFS) syndrome.
  9. [The cerebro-oculo-facio-skeletal syndrome].
  10. Cerebro-oculo-facio-skeletal (COFS) syndrome. The variability of presenting symptoms as a manifestation of two subtypes?
  11. Syndromes with lissencephaly. II: Walker-Warburg and cerebro-oculo-muscular syndromes and a new syndrome with type II lissencephaly.
  12. [Cerebro-oculo-facio-skeletal (COFS) syndrome].
  13. [Severe course of osteopathy in Lowe's oculocerebrorenal syndrome].
  14. The cerebro-oculo-facio-skeletal syndrome.
  15. Chondro-osseous changes in Cerebro-Oculo-Facial-Skeletal (COFS) syndrome.
  16. [Genetic-morphologic fatal syndromes. Cerebro-oculo-facioskeletal syndrome (Pena-Shokeir syndrome II)].
  17. A new syndrome with cerebro-oculo-skeletal-renal involvement.
  18. Cerebro-oculo-facio-skeletal (COFS) syndrome in siblings.
  19. Ocular findings in cerebro-oculo-facial-skeletal syndrome (Pena-Shokeir-II syndrome).
  20. Cerebro-oculo-nasal syndrome: report of a case with a severe phenotype.