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Topic Review
CEBPA Gene
CCAAT enhancer binding protein alpha
  • 840
  • 24 Dec 2020
Topic Review
SDHC Gene
succinate dehydrogenase complex subunit C
  • 840
  • 24 Dec 2020
Topic Review
Dystonia 16
Dystonia 16 is one of many forms of dystonia, which is a group of conditions characterized by involuntary movements, twisting (torsion) and tensing of various muscles, and unusual positioning of affected body parts. Dystonia 16 can appear at any age from infancy through adulthood, although it most often begins in childhood.
  • 840
  • 25 Dec 2020
Topic Review
Transthyretin Amyloidosis
Transthyretin amyloidosis is a slowly progressive condition characterized by the buildup of abnormal deposits of a protein called amyloid (amyloidosis) in the body's organs and tissues.
  • 839
  • 23 Dec 2020
Topic Review
Kearns-Sayre Syndrome
Kearns-Sayre syndrome is a condition that affects many parts of the body, especially the eyes. The features of Kearns-Sayre syndrome usually appear before age 20, and the condition is diagnosed by a few characteristic signs and symptoms.
  • 839
  • 23 Dec 2020
Topic Review
TCF4 Gene
Transcription factor 4: The TCF4 gene provides instructions for making a protein that attaches (binds) to specific regions of DNA and helps control the activity of many other genes.
  • 839
  • 24 Dec 2020
Topic Review
DUX4 Gene
Double Homeobox 4
  • 839
  • 24 Dec 2020
Topic Review
Dyskeratosis Congenita
Dyskeratosis congenita is a disorder that can affect many parts of the body. There are three features that are characteristic of this disorder: fingernails and toenails that grow poorly or are abnormally shaped (nail dystrophy); changes in skin coloring (pigmentation), especially on the neck and chest, in a pattern often described as "lacy"; and white patches inside the mouth (oral leukoplakia).
  • 839
  • 24 Dec 2020
Topic Review
INSR Gene
Insulin receptor
  • 838
  • 23 Dec 2020
Topic Review
Miller Syndrome
Miller syndrome is a rare condition that mainly affects the development of the face and limbs. The severity of this disorder varies among affected individuals.
  • 838
  • 23 Dec 2020
Topic Review
CLN8 Disease
CLN8 disease is an inherited disorder that varies in severity and primarily affects the nervous system. The condition is generally separated into less-severe and more-severe forms, based on the types of signs and symptoms that develop and life expectancy.
  • 838
  • 05 Apr 2021
Topic Review
Progressive External Ophthalmoplegia
Progressive external ophthalmoplegia is a condition characterized by weakness of the eye muscles. The condition typically appears in adults between ages 18 and 40 and slowly worsens over time.
  • 838
  • 24 Dec 2020
Topic Review
Melnick-Needles Syndrome
Melnick-Needles syndrome is a disorder involving abnormalities in skeletal development and other health problems.
  • 837
  • 23 Dec 2020
Topic Review
Guillain-Barré Syndrome
Guillain-Barré syndrome is an autoimmune disorder that affects the nerves.
  • 837
  • 23 Dec 2020
Topic Review
NF1 Gene
neurofibromin 1
  • 837
  • 23 Dec 2020
Topic Review
Citrullinemia
Citrullinemia is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. Two types of citrullinemia have been described; they have different signs and symptoms and are caused by mutations in different genes.
  • 837
  • 24 Dec 2020
Topic Review
Poikiloderma with Neutropenia
Poikiloderma with neutropenia (PN) is a disorder that mainly affects the skin and the immune system.
  • 837
  • 24 Dec 2020
Topic Review
Donohue Syndrome
Donohue syndrome is a rare disorder characterized by severe insulin resistance, a condition in which the body's tissues and organs do not respond properly to the hormone insulin. Insulin normally helps regulate blood sugar levels by controlling how much sugar (in the form of glucose) is passed from the bloodstream into cells to be used as energy. Severe insulin resistance leads to problems with regulating blood sugar levels and affects the development and function of organs and tissues throughout the body.
  • 837
  • 24 Dec 2020
Topic Review
PKP2 Gene
plakophilin 2
  • 837
  • 25 Dec 2020
Topic Review
HLRCC
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a disorder in which affected individuals tend to develop benign tumors containing smooth muscle tissue (leiomyomas) in the skin and, in females, the uterus. This condition also increases the risk of kidney cancer.
  • 837
  • 23 Dec 2020
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