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Topic Review
DNMT3A Gene
DNA Methyltransferase 3 Alpha: The DNMT3A gene provides instructions for making an enzyme called DNA methyltransferase 3 alpha. 
  • 674
  • 24 Dec 2020
Topic Review
LGI1 Gene
Leucine rich glioma inactivated 1
  • 673
  • 23 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).
  • 673
  • 24 Dec 2020
Topic Review
RMRP Gene
RNA component of mitochondrial RNA processing endoribonuclease
  • 673
  • 24 Dec 2020
Topic Review
SLC4A1-Associated Distal Renal Tubular Acidosis
SLC4A1-associated distal renal tubular acidosis is a kidney (renal) disorder that sometimes includes blood cell abnormalities.
  • 673
  • 24 Dec 2020
Topic Review
CYP2C9 Gene
Cytochrome P450 Family 2 Subfamily C Member 9
  • 672
  • 23 Dec 2020
Topic Review
WNT10A Gene
WNT family member 10A.
  • 672
  • 24 Dec 2020
Topic Review
MECP2 Gene
methyl-CpG binding protein 2
  • 671
  • 22 Dec 2020
Topic Review
Gaucher Disease
Gaucher disease is an inherited disorder that affects many of the body's organs and tissues
  • 671
  • 23 Dec 2020
Topic Review
Glanzmann Thrombasthenia
Glanzmann thrombasthenia is a bleeding disorder that is characterized by prolonged or spontaneous bleeding starting from birth.
  • 671
  • 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).
  • 671
  • 23 Dec 2020
Topic Review
IRAK-4 Deficiency
IRAK-4 deficiency is an inherited disorder of the immune system (primary immunodeficiency). This immunodeficiency leads to recurrent infections by a subset of bacteria known as pyogenic bacteria but not by other infectious agents. (Infection with pyogenic bacteria causes the production of pus.)
  • 671
  • 23 Dec 2020
Topic Review
RAB3GAP1 Gene
RAB3 GTPase activating protein catalytic subunit 1
  • 671
  • 23 Dec 2020
Topic Review
DHCR24 Gene
24-Dehydrocholesterol Reductase
  • 671
  • 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.
  • 670
  • 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.
  • 670
  • 01 May 2021
Topic Review
PSMB8 Gene
proteasome subunit beta 8
  • 670
  • 23 Dec 2020
Topic Review
ARID1A Gene
AT-rich interaction domain 1A
  • 670
  • 24 Dec 2020
Topic Review
Cerebral Cavernous Malformation
Cerebral cavernous malformations are collections of small blood vessels (capillaries) in the brain that are enlarged and irregular in structure. These capillaries have abnormally thin walls, and they lack other support tissues, such as elastic fibers, which normally make them stretchy. As a result, the blood vessels are prone to leakage, which can cause the health problems related to this condition. Cavernous malformations can occur anywhere in the body, but usually produce serious signs and symptoms only when they occur in the brain and spinal cord (which are described as cerebral).
  • 669
  • 24 Dec 2020
Topic Review
RNF213 Gene
ring finger protein 213
  • 669
  • 24 Dec 2020
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