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Topic Review
CEP290 Gene
centrosomal protein 290
  • 705
  • 24 Dec 2020
Topic Review
COL11A2 Gene
collagen type XI alpha 2 chain
  • 705
  • 24 Dec 2020
Topic Review
COL8A2 Gene
collagen type VIII alpha 2 chain
  • 705
  • 24 Dec 2020
Topic Review
SOX10 Gene
SRY-box 10
  • 705
  • 24 Dec 2020
Topic Review
SLC3A1 Gene
solute carrier family 3 member 1
  • 705
  • 24 Dec 2020
Topic Review
Generalized Arterial Calcification of Infancy
Generalized arterial calcification of infancy (GACI) is a disorder affecting the circulatory system that becomes apparent before birth or within the first few months of life.
  • 704
  • 23 Dec 2020
Topic Review
HNF1B Gene
HNF1 homeobox B
  • 704
  • 23 Dec 2020
Topic Review
Lattice Corneal Dystrophy Type II
Lattice corneal dystrophy type II is characterized by an accumulation of protein clumps called amyloid deposits in tissues throughout the body.
  • 704
  • 23 Dec 2020
Topic Review
Legg-Calvé-Perthes Disease
Legg-Calvé-Perthes disease is a bone disorder that affects the hips. Usually, only one hip is involved, but in about 10 percent of cases, both hips are affected. Legg-Calvé-Perthes disease begins in childhood, typically between ages 4 and 8, and affects boys more frequently than girls.
  • 704
  • 23 Dec 2020
Topic Review
Chanarin-Dorfman Syndrome
Chanarin-Dorfman syndrome is a condition in which fats (lipids) are stored abnormally in the body. The signs and symptoms vary greatly among individuals with Chanarin-Dorfman syndrome. Some people may have ichthyosis only, while others may have problems affecting many areas of the body.
  • 704
  • 24 Dec 2020
Topic Review
ZEB2 Gene
Zinc finger E-box binding homeobox 2
  • 704
  • 24 Dec 2020
Topic Review
LRRK2 Gene
Leucine rich repeat kinase 2
  • 703
  • 23 Dec 2020
Topic Review
Neurofibromatosis Type 2
Neurofibromatosis type 2 is a disorder characterized by the growth of noncancerous tumors in the nervous system.
  • 703
  • 23 Dec 2020
Topic Review
RAG1 Gene
recombination activating 1
  • 703
  • 23 Dec 2020
Topic Review
SDHAF2 Gene
succinate dehydrogenase complex assembly factor 2
  • 703
  • 24 Dec 2020
Topic Review
COL7A1 Gene
collagen type VII alpha 1 chain
  • 703
  • 24 Dec 2020
Topic Review
Early-onset Primary Dystonia
Early-onset primary dystonia is a condition characterized by progressive problems with movement, typically beginning in childhood. Dystonia is a movement disorder that involves involuntary tensing of the muscles (muscle contractions), twisting of specific body parts such as an arm or a leg, rhythmic shaking (tremors), and other uncontrolled movements. A primary dystonia is one that occurs without other neurological symptoms, such as seizures or a loss of intellectual function (dementia). Early-onset primary dystonia does not affect a person's intelligence.
  • 703
  • 25 Dec 2020
Topic Review
TUBB4A Gene
Tubulin beta 4A class IVa.
  • 702
  • 23 Dec 2020
Topic Review
LAMA2 Gene
Laminin subunit alpha 2
  • 702
  • 23 Dec 2020
Topic Review
LAMB3 Gene
Laminin subunit beta 3
  • 702
  • 23 Dec 2020
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