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Topic Review
Chronic Granulomatous Disease
Chronic granulomatous disease is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency.
  • 931
  • 24 Dec 2020
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.
  • 931
  • 24 Dec 2020
Topic Review
Telomeric and Sub-Telomeric in Fungal
Telomeres are long non-coding regions found at the ends of eukaryotic linear chromosomes. Although they have traditionally been associated with the protection of linear DNA ends to avoid gene losses during each round of DNA replication, the role of these sequences and their adjacent regions go beyond just protecting chromosomal ends. Regions nearby to telomeric sequences have now been identified as having increased variability in the form of duplications and rearrangements that result in new functional abilities and biodiversity.
  • 931
  • 09 Oct 2023
Topic Review
1q21.1 microduplication
1q21.1 microduplication is a chromosomal change in which a small amount of genetic material on chromosome 1 is abnormally copied (duplicated). The duplication occurs on the long (q) arm of the chromosome at a location designated q21.1.
  • 930
  • 23 Dec 2020
Topic Review
Ataxia with Oculomotor Apraxia
Ataxia with oculomotor apraxia is a condition characterized by problems with movement that worsen over time. The hallmark of this condition is poor coordination and balance (ataxia), which is often the first symptom. Most affected people also have oculomotor apraxia, which makes it difficult to move their eyes side-to-side. People with oculomotor apraxia have to turn their head to see things in their side (peripheral) vision.
  • 930
  • 24 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.
  • 930
  • 25 Dec 2020
Topic Review
Meier-Gorlin Syndrome
Meier-Gorlin syndrome is a condition primarily characterized by short stature.
  • 930
  • 23 Dec 2020
Topic Review
Giant Congenital Melanocytic Nevus
Giant congenital melanocytic nevus is a skin condition characterized by an abnormally dark, noncancerous skin patch (nevus) that is composed of pigment-producing cells called melanocytes. It is present from birth (congenital) or is noticeable soon after birth.
  • 930
  • 23 Dec 2020
Topic Review
MT-ND4 Gene
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4
  • 929
  • 23 Dec 2020
Topic Review
Hypokalemic Periodic Paralysis
Hypokalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness typically beginning in childhood or adolescence.
  • 929
  • 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.
  • 929
  • 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.
  • 929
  • 24 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.
  • 929
  • 24 Dec 2020
Topic Review
Saethre-Chotzen syndrome
Saethre-Chotzen syndrome is a genetic condition characterized by the premature fusion of certain skull bones (craniosynostosis).
  • 929
  • 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.
  • 929
  • 24 Dec 2020
Topic Review
FOXG1 Gene
Forkhead box G1
  • 929
  • 25 Dec 2020
Topic Review
Familial Lipoprotein Lipase Deficiency
Familial lipoprotein lipase deficiency is an inherited condition that disrupts the normal breakdown of fats in the body, resulting in an increase of certain kinds of fats.
  • 929
  • 25 Dec 2020
Topic Review
UNC80 Deficiency
UNC80 deficiency is a severe disorder characterized by nervous system and developmental problems that are apparent from birth or early infancy. The disorder does not typically get worse over time; development of intellectual function and motor skills, such as rolling over and sitting, is slow and limited, but once skills are learned, they are usually retained.  
  • 928
  • 23 Dec 2020
Topic Review
PMP22 Gene
peripheral myelin protein 22
  • 928
  • 25 Dec 2020
Topic Review
MSH2 Gene
mutS homolog 2
  • 927
  • 23 Dec 2020
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