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Topic Review
Marfan Syndrome
Marfan syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles, blood vessels, and heart valves. The signs and symptoms of Marfan syndrome vary widely in severity, timing of onset, and rate of progression.
  • 1.1K
  • 23 Dec 2020
Topic Review
Harlequin Ichthyosis
Harlequin ichthyosis is a severe genetic disorder that mainly affects the skin.
  • 1.1K
  • 23 Dec 2020
Topic Review
7q11.23 Duplication Syndrome
7q11.23 duplication syndrome is a condition that can cause a variety of neurological and behavioral problems as well as other abnormalities.  
  • 1.1K
  • 23 Dec 2020
Topic Review
Acatalasemia
Acatalasemia is a condition characterized by very low levels of an enzyme called catalase. Many people with acatalasemia never have any health problems related to the condition and are diagnosed because they have affected family members.
  • 1.1K
  • 04 Feb 2021
Topic Review
SADDAN
SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) is a rare disorder of bone growth characterized by skeletal, brain, and skin abnormalities.
  • 1.1K
  • 24 Dec 2020
Topic Review
ACE Gene
angiotensin I converting enzyme
  • 1.1K
  • 04 Feb 2021
Topic Review
Genetic Improvement of Drought Tolerance in Conifers
The constant rise in the global temperature and unpredictable shifts in precipitation patterns are two of the main effects of climate change. Conifers originated more than 300 million years ago and currently dominate many temperate and boreal forests.
  • 1.1K
  • 09 Dec 2022
Topic Review
Kallmann Syndrome
Kallmann syndrome is a condition characterized by delayed or absent puberty and an impaired sense of smell.
  • 1.1K
  • 23 Dec 2020
Topic Review
POFUT1 Gene
protein O-fucosyltransferase 1
  • 1.1K
  • 25 Dec 2020
Topic Review
SOD1 Gene
Superoxide dismutase 1
  • 1.1K
  • 04 Jan 2021
Topic Review
TK2 Gene
Thymidine kinase 2, mitochondrial: The TK2 gene provides instructions for making an enzyme called thymidine kinase 2 that functions within cell structures called mitochondria, which are found in all tissues.
  • 1.1K
  • 25 Dec 2020
Topic Review
adCSNB
Autosomal dominant congenital stationary night blindness is a disorder of the retina, which is the specialized tissue at the back of the eye that detects light and color.
  • 1.1K
  • 04 Jan 2021
Topic Review
CBAS2
Congenital bile acid synthesis defect type 2 is a disorder characterized by cholestasis, a condition that impairs the production and release of a digestive fluid called bile from liver cells. Bile is used during digestion to absorb fats and fat-soluble vitamins, such as vitamins A, D, E, and K. People with congenital bile acid synthesis defect type 2 cannot produce (synthesize) bile acids, which are a component of bile that stimulate bile flow and help it absorb fats and fat-soluble vitamins. As a result, an abnormal form of bile is produced.
  • 1.1K
  • 04 Jan 2021
Topic Review
Non-alcoholic Fatty Liver Disease
Non-alcoholic fatty liver disease (NAFLD) is a buildup of excessive fat in the liver that can lead to liver damage resembling the damage caused by alcohol abuse, but that occurs in people who do not drink heavily. The liver is a part of the digestive system that helps break down food, store energy, and remove waste products, including toxins. The liver normally contains some fat; an individual is considered to have a fatty liver (hepatic steatosis) if the liver contains more than 5 to 10 percent fat.
  • 1.1K
  • 04 Jan 2021
Topic Review
Engineered Durum Wheat Germplasm
Durum wheat (Triticum durum var. durum, 2n = 4x = 28, AB genomes) is a major staple crop in the Mediterranean Basin, where its cultivation largely replaced that of tetraploid emmer, T. dicoccum, by the first millennium B.C.
  • 1.1K
  • 29 Oct 2020
Topic Review
SELENON Gene
selenoprotein N
  • 1.1K
  • 24 Dec 2020
Topic Review
15q24 Microdeletion
15q24 microdeletion is a chromosomal change in which a small piece of chromosome 15 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q24.
  • 1.1K
  • 26 Aug 2021
Topic Review
Chromosome 9
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 9, one copy inherited from each parent, form one of the pairs.
  • 1.1K
  • 24 Dec 2020
Topic Review
Distal Myopathy 2
Distal myopathy 2 is a condition characterized by weakness of specific muscles that begins in adulthood. It is a form of muscular dystrophy that specifically involves muscles in the throat, lower legs, and forearms. Muscles farther from the center of the body, like the muscles of the lower legs and forearms, are known as distal muscles.
  • 1.1K
  • 24 Dec 2020
Topic Review
MYD88 Gene
MYD88, innate immune signal transduction adaptor
  • 1.1K
  • 23 Dec 2020
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