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Topic Review
Mucolipidosis III Gamma
Mucolipidosis III gamma is a slowly progressive disorder that affects many parts of the body. Signs and symptoms of this condition typically appear around age 3.
  • 670
  • 23 Dec 2020
Topic Review
Keratitis-Ichthyosis-Deafness Syndrome
Keratitis-ichthyosis-deafness (KID) syndrome is characterized by eye problems, skin abnormalities, and hearing loss.
  • 670
  • 23 Dec 2020
Topic Review
WNT10A Gene
WNT family member 10A.
  • 670
  • 24 Dec 2020
Topic Review
Aicardi Syndrome
Aicardi syndrome is a disorder that occurs almost exclusively in females. It is characterized by three main features that occur together in most affected individuals. People with Aicardi syndrome have absent or underdeveloped tissue connecting the left and right halves of the brain (agenesis or dysgenesis of the corpus callosum). They have seizures beginning in infancy (infantile spasms), which tend to progress to recurrent seizures (epilepsy) that can be difficult to treat. Affected individuals also have chorioretinal lacunae, which are defects in the light-sensitive tissue at the back of the eye (retina).
  • 670
  • 24 Dec 2020
Topic Review
SCARB2 Gene
scavenger receptor class B member 2
  • 670
  • 24 Dec 2020
Topic Review
GM3 Synthase Deficiency
GM3 synthase deficiency is characterized by recurrent seizures (epilepsy) and problems with brain development.
  • 668
  • 23 Dec 2020
Topic Review
HSD17B10 Gene
Hydroxysteroid 17-beta dehydrogenase 10
  • 668
  • 23 Dec 2020
Topic Review
Chordoma
A chordoma is a rare type of cancerous tumor that can occur anywhere along the spine, from the base of the skull to the tailbone. Chordomas grow slowly, gradually extending into the bone and soft tissue around them. They often recur after treatment, and in about 40 percent of cases the cancer spreads (metastasizes) to other areas of the body, such as the lungs.
  • 668
  • 24 Dec 2020
Topic Review
ASXL1 Gene
ASXL transcriptional regulator 1
  • 668
  • 24 Dec 2020
Topic Review
DNMT3A Gene
DNA Methyltransferase 3 Alpha: The DNMT3A gene provides instructions for making an enzyme called DNA methyltransferase 3 alpha. 
  • 668
  • 24 Dec 2020
Topic Review
HLA-DPB1 Gene
Major histocompatibility complex, class II, DP beta 1
  • 667
  • 22 Dec 2020
Topic Review
Gaucher Disease
Gaucher disease is an inherited disorder that affects many of the body's organs and tissues
  • 667
  • 23 Dec 2020
Topic Review
ALG12-congenital Disorder of Glycosylation
ALG12-congenital disorder of glycosylation (ALG12-CDG, also known as congenital disorder of glycosylation type Ig) is an inherited disorder with varying signs and symptoms that can affect several body systems. Individuals with ALG12-CDG typically develop signs and symptoms of the condition during infancy. They may have problems feeding and difficulty growing and gaining weight at the expected rate (failure to thrive). In addition, affected individuals often have intellectual disability, delayed development, and weak muscle tone (hypotonia), and some develop seizures.
  • 667
  • 01 May 2021
Topic Review
RNF213 Gene
ring finger protein 213
  • 667
  • 24 Dec 2020
Topic Review
CLCF1 Gene
cardiotrophin like cytokine factor 1
  • 667
  • 24 Dec 2020
Topic Review
HSD10 Disease
HSD10 disease is a disorder that affects the nervous system, vision, and heart. It is typically more severe in males than in females.
  • 666
  • 23 Dec 2020
Topic Review
LGI1 Gene
Leucine rich glioma inactivated 1
  • 666
  • 23 Dec 2020
Topic Review
Recurrent Hydatidiform Mole
Recurrent hydatidiform mole is a condition that affects women and is characterized by the occurrence of at least two abnormal pregnancies that result in the formation of hydatidiform moles.
  • 666
  • 24 Dec 2020
Topic Review
PSMB8 Gene
proteasome subunit beta 8
  • 666
  • 23 Dec 2020
Topic Review
Glutaric Acidemia Type II
Glutaric acidemia type II is an inherited disorder that interferes with the body's ability to break down proteins and fats to produce energy. Incompletely processed proteins and fats can build up in the body and cause the blood and tissues to become too acidic (metabolic acidosis).
  • 665
  • 23 Dec 2020
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