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Topic Review
Dihydropyrimidine Dehydrogenase Deficiency
Dihydropyrimidine dehydrogenase deficiency is a disorder characterized by a wide range of severity, with neurological problems in some individuals and no signs or symptoms in others.
  • 936
  • 24 Dec 2020
Topic Review
Severe Congenital Neutropenia
Severe congenital neutropenia is a condition that causes affected individuals to be prone to recurrent infections.
  • 936
  • 25 Dec 2020
Topic Review
Genomics of Parasitic Plants
Parasitic plants extract nutrients from the other plants to finish their life cycle and reproduce. The control of parasitic weeds is notoriously difficult due to their tight physical association and their close biological relationship to their hosts. Parasitic plants differ in their susceptible host ranges, and the host species differ in their susceptibility to parasitic plants. Data show that adaptations of parasitic plants to various hosts are largely genetically determined. However, multiple cases of rapid adaptation in genetically homogenous parasitic weed populations to new hosts strongly suggest the involvement of epigenetic mechanisms. Progress in genome-wide analyses of gene expression and epigenetic features revealed many new molecular details of the parasitic plants’ interactions with their host plants.
  • 936
  • 13 Feb 2023
Topic Review
LEMD3 Gene
LEM domain containing 3
  • 935
  • 23 Dec 2020
Topic Review
BRAF
B-Raf proto-oncogene, serine/threonine kinase
  • 935
  • 24 Dec 2020
Topic Review
SLC4A1 Gene
solute carrier family 4 member 1 (Diego blood group)
  • 935
  • 24 Dec 2020
Topic Review
GJB6 Gene
Gap junction protein beta 6
  • 935
  • 25 Dec 2020
Topic Review
MMAA Gene
metabolism of cobalamin associated A
  • 934
  • 22 Dec 2020
Topic Review
TAT Gene
Tyrosine aminotransferase: The TAT gene provides instructions for making a liver enzyme called tyrosine aminotransferase. 
  • 934
  • 24 Dec 2020
Topic Review
Glycogen Storage Disease Type VI
Glycogen storage disease type VI (also known as GSDVI or Hers disease) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in liver cells. A lack of glycogen breakdown interferes with the normal function of the liver.
  • 933
  • 23 Dec 2020
Topic Review
Intestinal Pseudo-Obstruction
Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract.
  • 933
  • 23 Dec 2020
Topic Review
Short-Chain Acyl-CoA Dehydrogenase Deficiency
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a condition that prevents the body from converting certain fats into energy, especially during periods without food (fasting).
  • 933
  • 25 Dec 2020
Topic Review
Familial Hypercholesterolemia
Familial hypercholesterolemia is an inherited condition characterized by very high levels of cholesterol in the blood. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals (particularly egg yolks, meat, poultry, fish, and dairy products). The body needs this substance to build cell membranes, make certain hormones, and produce compounds that aid in fat digestion. In people with familial hypercholesterolemia, the body is unable to get rid of extra cholesterol, and it builds up in the blood. Too much cholesterol increases a person's risk of developing heart disease.
  • 933
  • 25 Dec 2020
Topic Review
GLB1 Gene
Galactosidase beta 1
  • 933
  • 25 Dec 2020
Topic Review
Sialic Acid Storage Disease
Sialic acid storage disease is an inherited disorder that primarily affects the nervous system.
  • 933
  • 25 Dec 2020
Topic Review
Maffucci Syndrome
Maffucci syndrome is a disorder that primarily affects the bones and skin. It is characterized by multiple enchondromas, which are noncancerous (benign) growths of cartilage that develop within the bones. These growths most commonly occur in the limb bones, especially in the bones of the hands and feet; however, they may also occur in the skull, ribs, and bones of the spine (vertebrae). Enchondromas may result in severe bone deformities, shortening of the limbs, and fractures.
  • 932
  • 23 Dec 2020
Topic Review
FLNB Gene
Filamin B
  • 932
  • 28 Jun 2021
Topic Review
FLT3
Fms related tyrosine kinase 3
  • 932
  • 25 Dec 2020
Topic Review
FUS Gene
FUS RNA binding protein
  • 932
  • 25 Dec 2020
Topic Review
X-linked Lissencephaly with Abnormal Genitalia
X-linked lissencephaly with abnormal genitalia (XLAG) is a condition that affects the development of the brain and genitalia. It occurs most often in males.  
  • 932
  • 24 Dec 2020
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