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Topic Review
Raynaud Phenomenon
Raynaud phenomenon is a condition in which the body's normal response to cold or emotional stress is exaggerated, resulting in abnormal spasms (vasospasms) in small blood vessels called arterioles.
  • 708
  • 24 Dec 2020
Topic Review
Rothmund-Thomson Syndrome
Rothmund-Thomson syndrome is a rare condition that affects many parts of the body, especially the skin.
  • 708
  • 24 Dec 2020
Topic Review
WNK1 Gene
WNK lysine deficient protein kinase 1.
  • 707
  • 24 Dec 2020
Topic Review
NGF Gene
nerve growth factor
  • 706
  • 23 Dec 2020
Topic Review
CTSD Gene
Cathepsin D: The CTSD gene provides instructions for making an enzyme called cathepsin D.
  • 706
  • 23 Dec 2020
Topic Review
RAI1 Gene
retinoic acid induced 1
  • 706
  • 23 Dec 2020
Topic Review
Niemann-Pick Disease
Niemann-Pick disease is a condition that affects many body systems. It has a wide range of symptoms that vary in severity. Niemann-Pick disease is divided into four main types: type A, type B, type C1, and type C2. These types are classified on the basis of genetic cause and the signs and symptoms of the condition.
  • 706
  • 24 Dec 2020
Topic Review
SUCLG1 Gene
Succinate-CoA ligase alpha subunit: The SUCLG1 gene provides instructions for making one part, the alpha subunit, of an enzyme called succinate-CoA ligase.
  • 706
  • 24 Dec 2020
Topic Review
Pantothenate Kinase-Associated Neurodegeneration
Pantothenate kinase-associated neurodegeneration (formerly called Hallervorden-Spatz syndrome) is a disorder of the nervous system.
  • 706
  • 24 Dec 2020
Topic Review
Valuing the Wild
Warming and drought are reducing global crop production with a potential to substantially worsen global malnutrition. As with the green revolution in the last century, plant genetics may offer concrete opportunities to increase yield and crop adaptability. However, the rate at which the threat is happening requires powering new strategies in order to meet the global food demand.
  • 706
  • 09 Oct 2021
Topic Review
Bladder Exstrophy Epispadias Complex
The bladder exstrophy–epispadias complex (BEEC) is an abdominal midline malformation comprising a spectrum of congenital genitourinary abnormalities of the abdominal wall, pelvis, urinary tract, genitalia, anus, and spine. The vast majority of BEEC cases are classified as non-syndromic and the etiology of this malformation is still unknown.
  • 706
  • 05 Aug 2021
Topic Review
KRT6B Gene
Keratin 6B
  • 705
  • 23 Dec 2020
Topic Review
DNA Methylation Episignatures in Neurodevelopmental Disorders
Large structural chromosomal deletions and duplications, referred to as copy number variants (CNVs), play a role in the pathogenesis of neurodevelopmental disorders (NDDs) through effects on gene dosage. 
  • 705
  • 08 Aug 2022
Topic Review
Genitopatellar Syndrome
Genitopatellar syndrome is a rare condition characterized by genital abnormalities, missing or underdeveloped kneecaps (patellae), intellectual disability, and abnormalities affecting other parts of the body.
  • 704
  • 23 Dec 2020
Topic Review
Methylmalonic Acidemia
Methylmalonic acidemia is an inherited disorder in which the body is unable to process certain proteins and fats (lipids) properly.
  • 704
  • 23 Dec 2020
Topic Review
Nonsyndromic Hearing Loss
Nonsyndromic hearing loss is a partial or total loss of hearing that is not associated with other signs and symptoms. In contrast, syndromic hearing loss occurs with signs and symptoms affecting other parts of the body.
  • 704
  • 24 Dec 2020
Topic Review
HSPG2 Gene
Heparan sulfate proteoglycan 2
  • 703
  • 23 Dec 2020
Topic Review
DARS1 Gene
Aspartyl-tRNA Synthetase: The DARS1 gene provides instructions for making an enzyme called aspartyl-tRNA synthetase. 
  • 703
  • 23 Dec 2020
Topic Review
COL8A2 Gene
collagen type VIII alpha 2 chain
  • 703
  • 24 Dec 2020
Topic Review
Epitranscriptomics
Epitranscriptomics means the field of RNA modifications, which has been extended to other RNA molecules, including protein-coding genes, microRNAs (miRNAs) and long non-coding RNAs (lncRNAs). 
  • 703
  • 18 May 2021
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