Latest Research

  1. Congenital Unilateral Pulmonary …
  2. Lindsay Burn Syndrome
  3. Cleft Palate X-linked
  4. Thanos Stewart Zonana Syndrome
  5. Ciguatera Fish Poisoning
  6. Chromosome 11p- Partial Deletion
  7. Familial Hyperlipoproteinemia Type 1
  8. Cerebellar Degeneration- Subacute
  9. Autosomal Dominant Partial Epilepsy …
  10. Argininosuccinic Aciduria
  11. Aniridia Mental Retardation Syndrome
  12. Alagille Syndrome

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Adenosine triphosphatase deficiency- anemia due to

  1. Mechanism of copper transport at the blood-cerebrospinal fluid barrier: influence of iron deficiency in an in vitro model.
  2. Biochemical characterization of Warsaw breakage syndrome helicase.
  3. Human MutS and FANCM complexes function as redundant DNA damage sensors in the Fanconi Anemia pathway.
  4. ATP11C is critical for the internalization of phosphatidylserine and differentiation of B lymphocytes.
  5. Desmoplakin and KIF20B as target antigens in patients with paroxysmal nocturnal haemoglobinuria.
  6. [Pernicious anaemia--diagnostic benefit of the detection of autoantibodies against intrinsic factor and gastric parietal cells antigen H+/K+ ATPase].
  7. Parallel reductions in stomatin and Na,K-ATPase through the exosomal pathway during reticulocyte maturation in dogs: stomatin as a genotypic and phenotypic marker of high K(+) and low K(+) red cells.
  8. Role of the GATA-1/FOG-1/NuRD pathway in the expression of human beta-like globin genes.
  9. ATR activation and replication fork restart are defective in FANCM-deficient cells.
  10. Deficiency of smarcal1 causes cell cycle arrest and developmental abnormalities in zebrafish.
  11. Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1.
  12. Impaired FANCD2 monoubiquitination and hypersensitivity to camptothecin uniquely characterize Fanconi anemia complementation group M.