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Topic Review
Alpha-1 Antitrypsin Deficiency
Alpha-1 antitrypsin deficiency is an inherited disorder that may cause lung disease and liver disease. The signs and symptoms of the condition and the age at which they appear vary among individuals.
  • 876
  • 24 Dec 2020
Topic Review
RYR2 Gene
ryanodine receptor 2
  • 876
  • 24 Dec 2020
Topic Review
CDC73 Gene
cell division cycle 73
  • 876
  • 24 Dec 2020
Topic Review
Familial Cylindromatosis
Familial cylindromatosis is a condition involving multiple skin tumors that develop from structures associated with the skin (skin appendages), such as hair follicles and sweat glands. People with familial cylindromatosis typically develop large numbers of tumors called cylindromas. While previously thought to derive from sweat glands, cylindromas are now generally believed to begin in hair follicles.
  • 876
  • 25 Dec 2020
Topic Review
Maternally Inherited Diabetes and Deafness
Maternally inherited diabetes and deafness (MIDD) is a form of diabetes that is often accompanied by hearing loss, especially of high tones. The diabetes in MIDD is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin, which regulates the amount of sugar in the blood. In MIDD, the diabetes and hearing loss usually develop in mid-adulthood, although the age that they occur varies from childhood to late adulthood. Typically, hearing loss occurs before diabetes.
  • 875
  • 23 Dec 2020
Topic Review
Moebius Syndrome
Moebius syndrome is a rare neurological condition that primarily affects the muscles that control facial expression and eye movement. The signs and symptoms of this condition are present from birth.
  • 875
  • 23 Dec 2020
Topic Review
EARS2 Gene
Glutamyl-tRNA Synthetase 2, Mitochondrial
  • 875
  • 24 Dec 2020
Topic Review
SLC35A2-Congenital Disorder of Glycosylation
SLC35A2-congenital disorder of glycosylation (SLC35A2-CDG, formerly known as congenital disorder of glycosylation type IIm) is an inherited condition that causes neurological problems and other abnormalities. This disorder's signs and symptoms and their severity vary among affected individuals.
  • 875
  • 24 Dec 2020
Topic Review
Aicardi-Goutières Syndrome
Aicardi-Goutières syndrome is a disorder that mainly affects the brain, the immune system, and the skin.
  • 874
  • 24 Dec 2020
Topic Review
APOB Gene
apolipoprotein B
  • 874
  • 24 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.
  • 874
  • 24 Dec 2020
Topic Review
Pyruvate Dehydrogenase Deficiency
Pyruvate dehydrogenase deficiency is characterized by the buildup of a chemical called lactic acid in the body and a variety of neurological problems.
  • 874
  • 24 Dec 2020
Topic Review
SLC5A1 Gene
solute carrier family 5 member 1
  • 874
  • 24 Dec 2020
Topic Review
Farber Lipogranulomatosis
Farber lipogranulomatosis is a rare inherited condition involving the breakdown and use of fats in the body (lipid metabolism). In affected individuals, lipids accumulate abnormally in cells and tissues throughout the body, particularly around the joints..
  • 874
  • 25 Dec 2020
Topic Review
POLH Gene
DNA polymerase eta
  • 874
  • 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.
  • 873
  • 23 Dec 2020
Topic Review
BAP1 Gene
BRCA1 associated protein 1
  • 873
  • 24 Dec 2020
Topic Review
C9orf72 Gene
chromosome 9 open reading frame 72
  • 873
  • 24 Dec 2020
Topic Review
COG4 Gene
component of oligomeric golgi complex 4
  • 873
  • 19 Apr 2021
Topic Review
FIP1L1 Gene
FIP1 like 1 (S. cerevisiae)
  • 873
  • 25 Dec 2020
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