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Topic Review
SLC26A2 Gene
solute carrier family 26 member 2
  • 695
  • 04 Apr 2021
Topic Review
Hereditary Antithrombin Deficiency
Hereditary antithrombin deficiency is a disorder of blood clotting. People with this condition are at higher than average risk for developing abnormal blood clots, particularly a type of clot that occurs in the deep veins of the legs. This type of clot is called a deep vein thrombosis (DVT).
  • 694
  • 23 Dec 2020
Topic Review
HNF1A Gene
HNF1 homeobox A
  • 694
  • 23 Dec 2020
Topic Review
ITGA2B Gene
Integrin subunit alpha 2b
  • 694
  • 23 Dec 2020
Topic Review
LMNB1 Gene
Lamin B1
  • 694
  • 23 Dec 2020
Topic Review
Nonketotic Hyperglycinemia
Nonketotic hyperglycinemia is a disorder characterized by abnormally high levels of a molecule called glycine in the body (hyperglycinemia). The excess glycine builds up in tissues and organs, particularly the brain. Affected individuals have serious neurological problems.
  • 694
  • 24 Dec 2020
Topic Review
STK11 Gene
Serine/threonine kinase 11: The STK11 gene (also called LKB1) provides instructions for making an enzyme called serine/threonine kinase 11.
  • 694
  • 24 Dec 2020
Topic Review
RFX5 Gene
regulatory factor X5
  • 694
  • 24 Dec 2020
Topic Review
LIMK1 Gene
LIM domain kinase 1
  • 693
  • 23 Dec 2020
Topic Review
CACNA1D Gene
calcium voltage-gated channel subunit alpha1 D
  • 693
  • 24 Dec 2020
Topic Review
CLN10 Disease
CLN10 disease is a severe disorder that primarily affects the nervous system. Individuals with this condition typically show signs and symptoms soon after birth. These signs and symptoms can include muscle rigidity, respiratory failure, and prolonged episodes of seizure activity that last several minutes (status epilepticus). It is likely that some affected individuals also have seizures before birth while in the womb. Infants with CLN10 disease have unusually small heads (microcephaly) with brains that may be less than half the normal size. There is a loss of brain cells in areas that coordinate movement (the cerebellum) and control thinking and emotions (the cerebral cortex). Nerve cells in the brain also lack a fatty substance called myelin, which protects them and promotes efficient transmission of nerve impulses. Infants with CLN10 disease often die hours to weeks after birth.
  • 693
  • 24 Dec 2020
Topic Review
HLA-B Gene
Major histocompatibility complex, class I, B
  • 692
  • 22 Dec 2020
Topic Review
CLCNKB Gene
chloride voltage-gated channel Kb
  • 692
  • 24 Dec 2020
Topic Review
Oxidative-Stress-Sensitive microRNAs in UV-Promoted Development of Melanoma
Exposure to ultraviolet (UV) rays from the sun is one of the most important modifiable risk factors for skin cancer. Melanoma is the most life-threatening type of skin cancer. UV-induced DNA damage and oxidative stress represent two main mechanisms that, directly and indirectly, contribute to melanomagenesis. 
  • 692
  • 22 Jul 2022
Topic Review
COL11A1 Gene
collagen type XI alpha 1 chain
  • 691
  • 24 Dec 2020
Topic Review
Otospondylomegaepiphyseal Dysplasia
Otospondylomegaepiphyseal dysplasia (OSMED) is a condition characterized by skeletal abnormalities, distinctive facial features, and severe hearing loss.
  • 690
  • 24 Dec 2020
Topic Review
CEP57 Gene
centrosomal protein 57
  • 690
  • 24 Dec 2020
Topic Review
MTOR Gene
mechanistic target of rapamycin kinase
  • 689
  • 23 Dec 2020
Topic Review
ATP6V0A2 Gene
ATPase H+ transporting V0 subunit a2
  • 689
  • 24 Dec 2020
Topic Review
CIITA Gene
class II major histocompatibility complex transactivator
  • 689
  • 24 Dec 2020
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