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Topic Review
CDC73 Gene
cell division cycle 73
  • 870
  • 24 Dec 2020
Topic Review
SLC5A1 Gene
solute carrier family 5 member 1
  • 870
  • 24 Dec 2020
Topic Review
Farber Lipogranulomatosis
Farber lipogranulomatosis is a rare inherited condition involving the breakdown and use of fats in the body (lipid metabolism). In affected individuals, lipids accumulate abnormally in cells and tissues throughout the body, particularly around the joints..
  • 870
  • 25 Dec 2020
Topic Review
Gilbert Syndrome
Gilbert syndrome is a relatively mild condition characterized by periods of elevated levels of a toxic substance called bilirubin in the blood (hyperbilirubinemia).
  • 869
  • 23 Dec 2020
Topic Review
TUBB3 Gene
Tubulin beta 3 class III.
  • 869
  • 23 Dec 2020
Topic Review
Moebius Syndrome
Moebius syndrome is a rare neurological condition that primarily affects the muscles that control facial expression and eye movement. The signs and symptoms of this condition are present from birth.
  • 869
  • 23 Dec 2020
Topic Review
Pyruvate Dehydrogenase Deficiency
Pyruvate dehydrogenase deficiency is characterized by the buildup of a chemical called lactic acid in the body and a variety of neurological problems.
  • 869
  • 24 Dec 2020
Topic Review
C9orf72 Gene
chromosome 9 open reading frame 72
  • 869
  • 24 Dec 2020
Topic Review
Craniofrontonasal Syndrome
Craniofrontonasal syndrome is a rare condition characterized by the premature closure of certain bones of the skull (craniosynostosis) during development, which affects the shape of the head and face. The condition is named for the areas of the body that are typically affected: the skull (cranio-), face (fronto-), and nose (nasal).
  • 869
  • 24 Dec 2020
Topic Review
Cytochrome P450 Oxidoreductase Deficiency
Cytochrome P450 oxidoreductase deficiency is a disorder of hormone production. This condition specifically affects steroid hormones, which are needed for normal development and reproduction. The hormonal changes associated with cytochrome P450 oxidoreductase deficiency can affect the development of the reproductive system, skeleton, and other parts of the body. These signs and symptoms are usually present at birth or become apparent in early childhood.
  • 869
  • 24 Dec 2020
Topic Review
PDHB Gene
pyruvate dehydrogenase E1 beta subunit
  • 869
  • 25 Dec 2020
Topic Review
Non-Invasive Genetic Assessment in Wildlife Research
Genetic and genomic analyses are powerful tools in wildlife research. They might be able to yield the same information on, e.g., population size, health, or diet composition as other wildlife research methods, and even provide additional data that would not be possible to obtain by alternative means. If genetic material is obtained non-invasively, this approach might have no or only minimal impact on animal welfare. Noninvasive genetic sampling sensu lato is defined as "obtaining DNA without affecting the physical integrity of the animal through puncturing the skin or other entry into the body".
  • 869
  • 04 Nov 2021
Topic Review
Larsen Syndrome
Larsen syndrome is a disorder that affects the development of bones throughout the body. The signs and symptoms of Larsen syndrome vary widely even within the same family.
  • 868
  • 23 Dec 2020
Topic Review
CPT1A Gene
carnitine palmitoyltransferase 1A
  • 868
  • 24 Dec 2020
Topic Review
FIP1L1 Gene
FIP1 like 1 (S. cerevisiae)
  • 868
  • 25 Dec 2020
Topic Review
Hereditary Xanthinuria
Hereditary xanthinuria is a condition that most often affects the kidneys. It is characterized by high levels of a compound called xanthine and very low levels of another compound called uric acid in the blood and urine.
  • 867
  • 23 Dec 2020
Topic Review
Color Vision Deficiency
Color vision deficiency (sometimes called color blindness) represents a group of conditions that affect the perception of color. 
  • 867
  • 24 Dec 2020
Topic Review
X-linked Spondyloepiphyseal Dysplasia Tarda
X-linked spondyloepiphyseal dysplasia tarda is a condition that impairs bone growth and occurs almost exclusively in males.
  • 867
  • 24 Dec 2020
Topic Review
Ollier Disease
Ollier disease is a disorder characterized by multiple enchondromas, which are noncancerous (benign) growths of cartilage that develop within the bones. These growths most commonly occur in the limb bones, especially in the bones of the hands and feet; however, they may also occur in the skull, ribs, and bones of the spine (vertebrae). Enchondromas may result in severe bone deformities, shortening of the limbs, and fractures.
  • 866
  • 24 Dec 2020
Topic Review
Congenital Afibrinogenemia
Congenital afibrinogenemia is a bleeding disorder caused by impairment of the blood clotting process.
  • 866
  • 24 Dec 2020
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