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Topic Review
Spastic Paraplegia Type 7
Spastic paraplegia type 7 (also called SPG7) is part of a group of genetic disorders known as hereditary spastic paraplegias.
  • 993
  • 23 Dec 2020
Topic Review
Hemophilia
Hemophilia is a bleeding disorder that slows the blood clotting process.
  • 993
  • 23 Dec 2020
Topic Review
OPRM1 Gene
opioid receptor mu 1
  • 993
  • 24 Dec 2020
Topic Review
PIGV Gene
phosphatidylinositol glycan anchor biosynthesis class V
  • 993
  • 25 Dec 2020
Topic Review
Vaccination under COVID-19 Pandemic
The current COVID-19 pandemic, caused by severe acute respiratory syndrome-coronavirus 2 (SARS-CoV-2), has raised significant economic, social, and psychological concerns. The rapid spread of the virus, coupled with the absence of vaccines and antiviral treatments for SARS-CoV-2, has galvanized a major global endeavor to develop effective vaccines. Within a matter of just a few months of the initial outbreak, research teams worldwide, adopting a range of different strategies, embarked on a quest to develop effective vaccine that could be effectively used to suppress this virulent pathogen. 
  • 993
  • 08 Feb 2021
Topic Review
HMERF
Hereditary myopathy with early respiratory failure (HMERF) is an inherited disease that affects muscles used for movement (skeletal muscles) and muscles that are needed for breathing (respiratory muscles).
  • 992
  • 23 Dec 2020
Topic Review
Alport Syndrome
Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities.
  • 992
  • 24 Dec 2020
Topic Review
NOG Gene
noggin
  • 992
  • 24 Dec 2020
Topic Review
PLCG2 Gene
phospholipase C gamma 2
  • 992
  • 25 Dec 2020
Topic Review
TSC2 Gene
TSC complex subunit 2
  • 992
  • 25 Dec 2020
Topic Review
Stormorken syndrome
Stormorken syndrome is a rare condition that affects many body systems.
  • 991
  • 23 Dec 2020
Topic Review
Task-specific Focal Dystonia
Task-specific focal dystonia is a movement disorder that interferes with the performance of particular tasks, such as writing, playing a musical instrument, or participating in a sport. Dystonias are a group of movement problems characterized by involuntary, sustained muscle contractions, tremors, and other uncontrolled movements. The term "focal" refers to a type of dystonia that affects a single part of the body, such as the hand or jaw.  
  • 991
  • 23 Dec 2020
Topic Review
SUOX Gene
Sulfite oxidase: The SUOX gene provides instructions for making an enzyme called sulfite oxidase, which helps break down protein building blocks (amino acids) that contain sulfur when they are no longer needed.
  • 991
  • 24 Dec 2020
Topic Review
PURA Syndrome
PURA syndrome is a condition characterized by intellectual disability and delayed development of speech and motor skills, such as walking.
  • 991
  • 24 Dec 2020
Topic Review
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome is a condition characterized by abnormal electrical pathways in the heart that cause a disruption of the heart's normal rhythm (arrhythmia).  
  • 991
  • 24 Dec 2020
Topic Review
Pendred Syndrome
Pendred syndrome is a disorder typically associated with hearing loss and a thyroid condition called a goiter.
  • 991
  • 24 Dec 2020
Topic Review
Familial Candidiasis
Familial candidiasis is an inherited tendency to develop infections caused by a type of fungus called Candida. Affected individuals typically have infections of the skin, the nails, and the moist lining of body cavities (mucous membranes). These infections are recurrent and persistent, which means they come back repeatedly and can last a long time. This pattern of infection is called chronic mucocutaneous candidiasis.
  • 991
  • 25 Dec 2020
Topic Review
NPM1 Gene
nucleophosmin 1
  • 989
  • 24 Dec 2020
Topic Review
X-linked Acrogigantism
X-linked acrogigantism (X-LAG) is a condition that causes abnormally fast growth beginning early in life. Babies with this condition are a normal size at birth but begin to grow rapidly in infancy or early childhood, and affected children are taller than their peers.  
  • 989
  • 24 Dec 2020
Topic Review
ACTA1 Gene
actin, alpha 1, skeletal muscle
  • 989
  • 24 Dec 2020
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