Your browser does not fully support modern features. Please upgrade for a smoother experience.
Subject:
All Disciplines Arts & Humanities Biology & Life Sciences Business & Economics Chemistry & Materials Science Computer Science & Mathematics Engineering Environmental & Earth Sciences Medicine & Pharmacology Physical Sciences Public Health & Healthcare Social Sciences
Sort by:
Most Viewed Latest Alphabetical (A-Z) Alphabetical (Z-A)
Filter:
All Topic Review Biography Peer Reviewed Entry Video Entry
Topic Review
Refsum Disease
Refsum disease is an inherited condition that causes vision loss, absence of the sense of smell (anosmia), and a variety of other signs and symptoms.
  • 879
  • 24 Dec 2020
Topic Review
C9orf72 Gene
chromosome 9 open reading frame 72
  • 879
  • 24 Dec 2020
Topic Review
COG4 Gene
component of oligomeric golgi complex 4
  • 879
  • 19 Apr 2021
Topic Review
EARS2 Gene
Glutamyl-tRNA Synthetase 2, Mitochondrial
  • 879
  • 24 Dec 2020
Topic Review
FIP1L1 Gene
FIP1 like 1 (S. cerevisiae)
  • 879
  • 25 Dec 2020
Topic Review
GABRA1 Gene
Gamma-aminobutyric acid type A receptor alpha1 subunit
  • 879
  • 25 Dec 2020
Topic Review
PDHB Gene
pyruvate dehydrogenase E1 beta subunit
  • 879
  • 25 Dec 2020
Topic Review
Leber Congenital Amaurosis
Leber congenital amaurosis is an eye disorder that primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this disorder typically have severe visual impairment beginning in infancy. The visual impairment tends to be stable, although it may worsen very slowly over time.
  • 878
  • 23 Dec 2020
Topic Review
SLC5A1 Gene
solute carrier family 5 member 1
  • 878
  • 24 Dec 2020
Topic Review
POLH Gene
DNA polymerase eta
  • 878
  • 25 Dec 2020
Topic Review
CDC73 Gene
cell division cycle 73
  • 878
  • 24 Dec 2020
Topic Review
Spina Bifida
Spina bifida is a condition in which the neural tube, a layer of cells that ultimately develops into the brain and spinal cord, fails to close completely during the first few weeks of embryonic development.
  • 877
  • 23 Dec 2020
Topic Review
Anauxetic Dysplasia
Anauxetic dysplasia is a disorder characterized by extremely short stature (dwarfism) and other skeletal abnormalities, an unusually large range of joint movement (hypermobility), dental problems, and distinctive facial features. Mild intellectual disability can also occur in this disorder.
  • 877
  • 24 Dec 2020
Topic Review
Congenital Afibrinogenemia
Congenital afibrinogenemia is a bleeding disorder caused by impairment of the blood clotting process.
  • 877
  • 24 Dec 2020
Topic Review
X-linked Spondyloepiphyseal Dysplasia Tarda
X-linked spondyloepiphyseal dysplasia tarda is a condition that impairs bone growth and occurs almost exclusively in males.
  • 877
  • 24 Dec 2020
Topic Review
FOLR1 Gene
Folate receptor 1
  • 877
  • 25 Dec 2020
Topic Review
MicroRNA in Liver Fibrosis
Several miRNAs are associated with organ-specific and systemic fibrosis in the liver. Individual expression of miRNAs in plasma or serum is useful for liver fibrosis detection. In addition, some miRNAs can distinguish between early and late fibrosis with high sensitivity and specificity equal to or greater than the APRI and Fib-4 index.
  • 877
  • 03 Aug 2021
Topic Review
CPT1A Gene
carnitine palmitoyltransferase 1A
  • 876
  • 24 Dec 2020
Topic Review
Peutz-Jeghers Syndrome
Peutz-Jeghers syndrome is characterized by the development of noncancerous growths called hamartomatous polyps in the gastrointestinal tract (particularly the stomach and intestines) and a greatly increased risk of developing certain types of cancer.
  • 876
  • 24 Dec 2020
Topic Review
FBN1 Gene
Fibrillin 1: The FBN1 gene provides instructions for making a large protein called fibrillin-1. 
  • 876
  • 25 Dec 2020
  • Page
  • of
  • 135
Academic Video Service