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Topic Review
LAMB3 Gene
Laminin subunit beta 3
  • 694
  • 23 Dec 2020
Topic Review
RBM8A Gene
RNA binding motif protein 8A
  • 694
  • 23 Dec 2020
Topic Review
ANO5 Gene
anoctamin 5
  • 694
  • 24 Dec 2020
Topic Review
CDH23 Gene
cadherin related 23
  • 694
  • 24 Dec 2020
Topic Review
ITGB3 Gene
Integrin subunit beta 3
  • 693
  • 23 Dec 2020
Topic Review
LAMA2 Gene
Laminin subunit alpha 2
  • 693
  • 23 Dec 2020
Topic Review
LRRK2 Gene
Leucine rich repeat kinase 2
  • 693
  • 23 Dec 2020
Topic Review
Lattice Corneal Dystrophy Type II
Lattice corneal dystrophy type II is characterized by an accumulation of protein clumps called amyloid deposits in tissues throughout the body.
  • 693
  • 23 Dec 2020
Topic Review
Neuropathy, Ataxia, and Retinitis Pigmentosa
Neuropathy, ataxia, and retinitis pigmentosa (NARP) is a condition that causes a variety of signs and symptoms that mainly affect the nervous system.
  • 693
  • 24 Dec 2020
Topic Review
ZIC2 Gene
Zic family member 2
  • 693
  • 24 Dec 2020
Topic Review
Carbamoyl Phosphate Synthetase I Deficiency
Carbamoyl phosphate synthetase I deficiency is an inherited disorder that causes ammonia to accumulate in the blood (hyperammonemia). Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The brain is especially sensitive to the effects of excess ammonia.
  • 693
  • 24 Dec 2020
Topic Review
SCNN1G Gene
sodium channel epithelial 1 gamma subunit
  • 693
  • 24 Dec 2020
Topic Review
MEN1 Gene
menin 1
  • 692
  • 22 Dec 2020
Topic Review
CLCNKA Gene
chloride voltage-gated channel Ka
  • 692
  • 24 Dec 2020
Topic Review
Pelizaeus-Merzbacher-Like Disease Type 1
Pelizaeus-Merzbacher-like disease type 1 is an inherited condition involving the brain and spinal cord (central nervous system).
  • 692
  • 24 Dec 2020
Topic Review
COL7A1 Gene
collagen type VII alpha 1 chain
  • 692
  • 24 Dec 2020
Topic Review
Mitochondrial tRNASer(UCN) Gene
Mitochondrial tRNASer(UCN) is considered a hot-spot for non-syndromic and aminoglycoside-induced hearing loss. However, many patients have been described with more extensive neurological diseases, mainly including epilepsy, myoclonus, ataxia, and myopathy. 
  • 692
  • 24 Feb 2023
Topic Review
In Utero Origins of Acute Leukemia in Children
Acute leukemias, mainly consisting of acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML), comprise a major diagnostic group among hematologic cancers. Due to the early age at onset of ALL, particularly, it has long been suspected that acute leukemias of childhood may have an in utero origin. 
  • 692
  • 23 Feb 2024
Topic Review
HNF1A Gene
HNF1 homeobox A
  • 691
  • 23 Dec 2020
Topic Review
Inclusion Body Myopathy 2
Inclusion body myopathy 2 is a condition that primarily affects skeletal muscles, which are muscles that the body uses for movement. This disorder causes muscle weakness that appears in late adolescence or early adulthood and worsens over time.
  • 691
  • 23 Dec 2020
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