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Topic Review
Ring Chromosome 14 Syndrome
Ring chromosome 14 syndrome is a condition characterized by seizures and intellectual disability.
  • 908
  • 24 Dec 2020
Topic Review
X-linked Lymphoproliferative Disease
X-linked lymphoproliferative disease (XLP) is a disorder of the immune system and blood-forming cells that is found almost exclusively in males.
  • 908
  • 24 Dec 2020
Topic Review
TGFBR1 Gene
transforming growth factor beta receptor 1
  • 908
  • 25 Dec 2020
Topic Review
Genome/Gene Editing
Theoretically, a DNA sequence-specific recognition protein that can distinguish a DNA sequence equal to or more than 16 bp could be unique to mammalian genomes. Long-sequence-specific nucleases, such as naturally occurring Homing Endonucleases and artificially engineered ZFN, TALEN, and Cas9-sgRNA, have been developed and widely applied in genome editing.
  • 908
  • 28 Sep 2021
Topic Review
Tyrosinemia
Tyrosinemia is a genetic disorder characterized by disruptions in the multistep process that breaks down the amino acid tyrosine, a building block of most proteins. If untreated, tyrosine and its byproducts build up in tissues and organs, which can lead to serious health problems.    
  • 908
  • 23 Dec 2020
Topic Review
Progressive Osseous Heteroplasia
Progressive osseous heteroplasia is a disorder in which bone forms within skin and muscle tissue.
  • 907
  • 24 Dec 2020
Topic Review
XDH Gene
Xanthine dehydrogenase
  • 906
  • 24 Dec 2020
Topic Review
SOX9
SRY-box 9
  • 906
  • 24 Dec 2020
Topic Review
TGFB1 Gene
transforming growth factor beta 1
  • 906
  • 25 Dec 2020
Topic Review
POLR3A Gene
RNA polymerase III subunit A
  • 906
  • 25 Dec 2020
Topic Review
Genome Editing Tools
Genome editing technology is a flexible engineering tool for genetic manipulation of microorganisms including fungi.
  • 906
  • 13 Apr 2021
Topic Review
Epigenetic Aspects of Rare Diseases
Epigenetics plays an important role in pathogenicity since it regulates basic cellular functions, such as gene expression, DNA damage, chromatin topology, and chromosomal organization. Rare diseases affect more than 300 million people worldwide.
  • 906
  • 05 Aug 2022
Topic Review
H19
H19, imprinted maternally expressed transcript
  • 905
  • 22 Dec 2020
Topic Review
Glucose-6-Phosphate Dehydrogenase Deficiency
Glucose-6-phosphate dehydrogenase deficiency is a genetic disorder that occurs almost exclusively in males.
  • 905
  • 23 Dec 2020
Topic Review
MyD88 Deficiency
MyD88 deficiency is an inherited disorder of the immune system (primary immunodeficiency).
  • 905
  • 23 Dec 2020
Topic Review
Loeys-Dietz Syndrome
Loeys-Dietz syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles, and blood vessels.
  • 905
  • 24 Dec 2020
Topic Review
Lesch-Nyhan Syndrome
Lesch-Nyhan syndrome is a condition that occurs almost exclusively in males. It is characterized by neurological and behavioral abnormalities and the overproduction of uric acid. Uric acid is a waste product of normal chemical processes and is found in blood and urine.
  • 905
  • 24 Dec 2020
Topic Review
FTL Gene
Ferritin light chain
  • 905
  • 25 Dec 2020
Topic Review
Ocular Albinism
Ocular albinism is a genetic condition that primarily affects the eyes. This condition reduces the coloring (pigmentation) of the iris, which is the colored part of the eye, and the retina, which is the light-sensitive tissue at the back of the eye. Pigmentation in the eye is essential for normal vision.
  • 904
  • 24 Dec 2020
Topic Review
Fanconi Anemia
Fanconi anemia is a condition that affects many parts of the body. People with this condition may have bone marrow failure, physical abnormalities, organ defects, and an increased risk of certain cancers.
  • 904
  • 25 Dec 2020
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