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Topic Review
Rapid-Onset Dystonia Parkinsonism
Rapid-onset dystonia parkinsonism is a rare movement disorder.
  • 1.0K
  • 24 Dec 2020
Topic Review
Winchester Syndrome
Winchester syndrome is a rare inherited disease characterized by a loss of bone tissue (osteolysis), particularly in the hands and feet.
  • 1.0K
  • 24 Dec 2020
Topic Review
Dihydrolipoamide Dehydrogenase Deficiency
Dihydrolipoamide dehydrogenase deficiency is a severe condition that can affect several body systems. Signs and symptoms of this condition usually appear shortly after birth, and they can vary widely among affected individuals.
  • 1.0K
  • 24 Dec 2020
Topic Review
PNP Gene
purine nucleoside phosphorylase
  • 1.0K
  • 25 Dec 2020
Topic Review
Chicories Genome-Wide Datasets for Marker-Assisted Crop Breeding Applications
Cichorium intybus L. is the most economically important species of its genus and among the most important of the Asteraceae family. In chicory, many linkage maps have been produced, several sets of mapped and unmapped markers have been developed, and dozens of genes linked to traits of agronomic interest have been investigated. This treasure trove of information, properly cataloged and organized, is of pivotal importance for the development of superior commercial products with valuable agronomic potential in terms of yield and quality, including reduced bitter taste and increased inulin production, as well as resistance or tolerance to pathogens and resilience to environmental stresses.
  • 1.0K
  • 02 Aug 2023
Topic Review
WAS Gene
Wiskott-Aldrich syndrome is characterized by abnormal immune system function (immune deficiency), eczema (an inflammatory skin disorder characterized by abnormal patches of red, irritated skin), and a reduced ability to form blood clots. This condition primarily affects males.
  • 1.0K
  • 24 Dec 2020
Topic Review
PCNT Gene
pericentrin
  • 1.0K
  • 25 Dec 2020
Topic Review
Hereditary Transthyretin-Related Amyloidosis
Point mutations of the transthyretin (TTR) gene are related with hereditary amyloidosis (hATTR), a rare disease whose real incidence is only partially estimated. Somatic mosaicism and other genetic factors influence the expressivity, complexity, progression, and transmission of the disease and should be better investigated, to improve the time to diagnosis and to estimate the real number of cases in endemic and non-endemic areas. 
  • 1.0K
  • 21 Oct 2022
Topic Review
Adenosine Deaminase Deficiency
Adenosine deaminase (ADA) deficiency is an inherited disorder that damages the immune system and causes severe combined immunodeficiency (SCID). People with SCID lack virtually all immune protection from bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. These infections are often caused by "opportunistic" organisms that ordinarily do not cause illness in people with a normal immune system.
  • 1.0K
  • 24 Dec 2020
Topic Review
Dystrophic Epidermolysis Bullosa
Dystrophic epidermolysis bullosa is one of the major forms of a group of conditions called epidermolysis bullosa.
  • 1.0K
  • 25 Dec 2020
Topic Review
CRISPR/Cas Technology
CRISPR/Cas (clustered regularly interspaced short palindromic repeats linked to Cas nuclease) technology has revolutionized many aspects of genetic engineering research. The changes introduced by the CRISPR/Cas system are based on the repair paths of the single or double strand DNA breaks that cause insertions, deletions, or precise integrations of donor DNA.
  • 1.0K
  • 29 Apr 2021
Topic Review
Bardet-Biedl Syndrome
Bardet-Biedl syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.
  • 1.0K
  • 24 Dec 2020
Topic Review
CRB1 Gene
crumbs 1, cell polarity complex component
  • 1.0K
  • 24 Dec 2020
Topic Review
NR5A1 Gene
nuclear receptor subfamily 5 group A member 1
  • 1.0K
  • 24 Dec 2020
Topic Review
FREM1 Gene
FRAS1 related extracellular matrix 1
  • 1.0K
  • 25 Dec 2020
Topic Review
PHGDH Gene
phosphoglycerate dehydrogenase
  • 1.0K
  • 25 Dec 2020
Topic Review
PML Gene
promyelocytic leukemia
  • 1.0K
  • 25 Dec 2020
Topic Review
Rotor Syndrome
Rotor syndrome is a relatively mild condition characterized by elevated levels of a substance called bilirubin in the blood (hyperbilirubinemia).
  • 1.0K
  • 19 Apr 2021
Topic Review
Simpson-Golabi-Behmel Syndrome
Simpson-Golabi-Behmel syndrome is a condition that affects many parts of the body and occurs primarily in males.
  • 1.0K
  • 25 Dec 2020
Topic Review
PHKA2 Gene
phosphorylase kinase regulatory subunit alpha 2
  • 1.0K
  • 25 Dec 2020
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