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Topic Review
FHL1 Gene
Four and a half LIM domains 1
  • 930
  • 25 Dec 2020
Topic Review
Restless Legs Syndrome
Restless legs syndrome is a neurological condition that causes an irresistible urge to move the legs. The movement is triggered by strange or uncomfortable feelings, often described as crawling, pulling, or itching, deep within both legs. The feelings usually occur while the affected person is sitting or lying down and are worse at night. Movement, such as kicking, stretching, rubbing, or pacing, make the discomfort go away, at least temporarily. The unpleasant feelings and the resulting need to move the legs often make it difficult for an affected person to fall asleep or stay asleep.
  • 930
  • 04 Jan 2021
Topic Review
Gillespie Syndrome
Gillespie syndrome is a disorder that involves eye abnormalities, weak muscle tone from birth (congenital hypotonia), problems with balance and coordinating movements (ataxia), and mild to moderate intellectual disability.
  • 929
  • 23 Dec 2020
Topic Review
TBX5 Gene
T-box 5: The TBX5 gene provides instructions for making a protein called T-box 5 that plays an important role in the formation of tissues and organs during embryonic development. 
  • 929
  • 24 Dec 2020
Topic Review
REN-related Kidney Disease
REN-related kidney disease is an inherited condition that affects kidney function.
  • 929
  • 24 Dec 2020
Topic Review
Corticosteroid-Binding Globulin Deficiency
Corticosteroid-binding globulin deficiency is a condition with subtle signs and symptoms, the most frequent being extreme tiredness (fatigue), especially after physical exertion.
  • 929
  • 24 Dec 2020
Topic Review
CASR Gene
calcium sensing receptor
  • 929
  • 24 Dec 2020
Topic Review
DHCR7 Gene
7-Dehydrocholesterol Reductase: The DHCR7 gene provides instructions for making an enzyme called 7-dehydrocholesterol reductase. 
  • 929
  • 24 Dec 2020
Topic Review
MOCS1 Gene
molybdenum cofactor synthesis 1
  • 928
  • 22 Dec 2020
Topic Review
FAS Gene
Fas cell surface death receptor
  • 928
  • 25 Dec 2020
Topic Review
FH Gene
Fumarate hydratase
  • 928
  • 25 Dec 2020
Topic Review
Sialidosis
Sialidosis is a severe inherited disorder that affects many organs and tissues, including the nervous system. This disorder is divided into two types, which are distinguished by the age at which symptoms appear and the severity of features.
  • 928
  • 25 Dec 2020
Topic Review
PAX8 Gene
paired box 8
  • 928
  • 25 Dec 2020
Topic Review
Lateral Meningocele Syndrome
Lateral meningocele syndrome is a disorder that affects the nervous system, the bones and muscles, and other body systems. The condition is characterized by abnormalities known as lateral meningoceles. Lateral meningoceles are protrusions of the membranes surrounding the spinal cord (known as the meninges) through gaps in the bones of the spine (vertebrae). The protrusions are most common and typically larger in the lower spine.
  • 927
  • 23 Dec 2020
Topic Review
Epigenetics of Aging
Aging represents the multifactorial decline in physiological function of every living organism. Over the past decades, several hallmarks of aging have been defined, including epigenetic deregulation. Indeed, multiple epigenetic events were found altered across different species during aging. Epigenetic changes directly contributing to aging and aging-related diseases include the accumulation of histone variants, changes in chromatin accessibility, loss of histones and heterochromatin, aberrant histone modifications, and deregulated expression/activity of miRNAs. As a consequence, cellular processes are affected, which results in the development or progression of several human pathologies, including cancer, diabetes, osteoporosis, and neurodegenerative disorders.
  • 927
  • 13 Jan 2021
Topic Review
Recent Advances in Syndactyly
Syndactyly (SD) is a congenital digital malformation characterized by webbing of the fingers and toes. Syndactyly is derived from the Greek word “syn”, meaning together, and “dactylos”, meaning digits. It is one of the most common hereditary limb disorders, with a prevalence of 3–10 in every 10,000 births, although higher estimates in the range of 10–40/10,000 have been reported.
  • 927
  • 24 Jun 2022
Topic Review
Costeff Syndrome
Costeff syndrome is an inherited condition characterized by vision loss, delayed development, and movement problems. Vision loss is primarily caused by degeneration (atrophy) of the optic nerves, which carry information from the eyes to the brain. This optic nerve atrophy often begins in infancy or early childhood and results in vision impairment that worsens over time. Some affected individuals have rapid and involuntary eye movements (nystagmus) or eyes that do not look in the same direction (strabismus).
  • 927
  • 24 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".
  • 927
  • 04 Nov 2021
Topic Review
KRT14 Gene
Keratin 14
  • 926
  • 23 Dec 2020
Topic Review
DRD5 Gene
Dopamine Receptor D5
  • 926
  • 24 Dec 2020
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