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Topic Review
Combined Malonic and Methylmalonic Mciduria
Combined malonic and methylmalonic aciduria (CMAMMA) is a condition characterized by high levels of certain chemicals, known as malonic acid and methylmalonic acid, in the body. A distinguishing feature of this condition is higher levels of methylmalonic acid than malonic acid in the urine, although both are elevated.
  • 929
  • 24 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.  
  • 929
  • 24 Dec 2020
Topic Review
Chronic Granulomatous Disease
Chronic granulomatous disease is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency.
  • 928
  • 24 Dec 2020
Topic Review
Popliteal Pterygium Syndrome
Popliteal pterygium syndrome is a condition that affects the development of the face, skin, and genitals. Most people with this disorder are born with a cleft lip, a cleft palate (an opening in the roof of the mouth), or both. Affected individuals may have depressions (pits) near the center of the lower lip, which may appear moist due to the presence of salivary and mucous glands in the pits. Small mounds of tissue on the lower lip may also occur. In some cases, people with popliteal pterygium syndrome have missing teeth.
  • 928
  • 24 Dec 2020
Topic Review
Sialic Acid Storage Disease
Sialic acid storage disease is an inherited disorder that primarily affects the nervous system.
  • 928
  • 25 Dec 2020
Topic Review
PMP22 Gene
peripheral myelin protein 22
  • 928
  • 25 Dec 2020
Topic Review
MT-ND4 Gene
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4
  • 928
  • 23 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.
  • 928
  • 13 Feb 2023
Topic Review
Hypokalemic Periodic Paralysis
Hypokalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness typically beginning in childhood or adolescence.
  • 927
  • 23 Dec 2020
Topic Review
Abetalipoproteinemia
Abetalipoproteinemia is an inherited disorder that impairs the normal absorption of fats and certain vitamins from the diet. Many of the signs and symptoms of abetalipoproteinemia result from a severe shortage (deficiency) of fat-soluble vitamins (vitamins A, E, and K). The signs and symptoms of this condition primarily affect the gastrointestinal system, eyes, nervous system, and blood.
  • 927
  • 23 Dec 2020
Topic Review
Blau Syndrome
Blau syndrome is an inflammatory disorder that primarily affects the skin, joints, and eyes. Signs and symptoms begin in childhood, usually before age 4.
  • 927
  • 24 Dec 2020
Topic Review
FOXG1 Gene
Forkhead box G1
  • 927
  • 25 Dec 2020
Topic Review
RAF1 Gene
Raf-1 proto-oncogene, serine/threonine kinase
  • 926
  • 23 Dec 2020
Topic Review
Amelogenesis Imperfecta
Amelogenesis imperfecta is a disorder of tooth development. This condition causes teeth to be unusually small, discolored, pitted or grooved, and prone to rapid wear and breakage. Other dental abnormalities are also possible. These defects, which vary among affected individuals, can affect both primary (baby) teeth and permanent (adult) teeth.
  • 926
  • 24 Dec 2020
Topic Review
TBX5 Gene
T-box 5: The TBX5 gene provides instructions for making a protein called T-box 5 that plays an important role in the formation of tissues and organs during embryonic development. 
  • 926
  • 24 Dec 2020
Topic Review
Scalp-Ear-Nipple Syndrome
Scalp-ear-nipple syndrome, as its name suggests, is a condition characterized by abnormalities of the scalp, ears, and nipples. Less frequently, affected individuals have problems affecting other parts of the body. The features of this disorder can vary even within the same family.
  • 926
  • 24 Dec 2020
Topic Review
FAS Gene
Fas cell surface death receptor
  • 926
  • 25 Dec 2020
Topic Review
Enlarged Parietal Foramina
Enlarged parietal foramina is an inherited condition of impaired skull development. It is characterized by enlarged openings (foramina) in the parietal bones, which are the two bones that form the top and sides of the skull.
  • 926
  • 25 Dec 2020
Topic Review
TPI1 Gene
Triosephosphate isomerase 1: The TPI1 gene provides instructions for making an enzyme called triosephosphate isomerase 1.
  • 926
  • 25 Dec 2020
Topic Review
MSH2 Gene
mutS homolog 2
  • 925
  • 23 Dec 2020
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