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Topic Review
FKBP14 Gene
FKBP prolyl isomerase 14: The FKBP14 gene provides instructions for making a protein called FKBP prolyl isomerase 14 (also known as FKBP22). 
  • 748
  • 25 Dec 2020
Topic Review
Ethylmalonic Encephalopathy
Ethylmalonic encephalopathy is an inherited disorder that affects several body systems, particularly the nervous system.
  • 748
  • 25 Dec 2020
Topic Review
ANOS1 Gene
anosmin 1
  • 747
  • 24 Dec 2020
Topic Review
DYRK1A Gene
Dual Specificity Tyrosine Phosphorylation Regulated Kinase 1A
  • 747
  • 24 Dec 2020
Topic Review
Andersen-Tawil Syndrome
Andersen-Tawil syndrome is a disorder that causes episodes of muscle weakness (periodic paralysis), changes in heart rhythm (arrhythmia), and developmental abnormalities. Periodic paralysis begins early in life, and episodes last from hours to days. These episodes may occur after exercise or long periods of rest, but they often have no obvious trigger. Muscle strength usually returns to normal between episodes. However, mild muscle weakness may eventually become permanent.
  • 746
  • 24 Dec 2020
Topic Review
NPHS1 Gene
NPHS1, nephrin
  • 746
  • 24 Dec 2020
Topic Review
CARD11 Gene
caspase recruitment domain family member 11
  • 746
  • 24 Dec 2020
Topic Review
CHRNA4 Gene
cholinergic receptor nicotinic alpha 4 subunit
  • 746
  • 24 Dec 2020
Topic Review
Mitochondrial Genomes of Bivalve Mollusks
Doubly uniparental inheritance (DUI) of mitochondrial DNA (mtDNA) in bivalve mollusks is one of the most notable departures from the paradigm of strict maternal inheritance of mtDNA among metazoans.
  • 746
  • 23 Aug 2021
Topic Review
Hereditary Multiple Osteochondromas
Hereditary multiple osteochondromas is a condition in which people develop multiple benign (noncancerous) bone tumors called osteochondromas.
  • 745
  • 23 Dec 2020
Topic Review
Juvenile Myoclonic Epilepsy
Juvenile myoclonic epilepsy is a condition characterized by recurrent seizures (epilepsy).
  • 745
  • 23 Dec 2020
Topic Review
ITGA6 Gene
Integrin subunit alpha 6
  • 745
  • 23 Dec 2020
Topic Review
KCNH2 Gene
Potassium voltage-gated channel subfamily H member 2
  • 745
  • 23 Dec 2020
Topic Review
MECP2-Related Severe Neonatal Encephalopathy
MECP2-related severe neonatal encephalopathy is a neurological disorder that primarily affects males and causes brain dysfunction (encephalopathy).
  • 745
  • 24 Dec 2020
Topic Review
Hereditary Cerebral Amyloid Angiopathy
Hereditary cerebral amyloid angiopathy is a condition that can cause a progressive loss of intellectual function (dementia), stroke, and other neurological problems starting in mid-adulthood.
  • 744
  • 23 Dec 2020
Topic Review
HOXA13 Gene
Homeobox A13
  • 744
  • 23 Dec 2020
Topic Review
ATP8B1 Gene
ATPase phospholipid transporting 8B1
  • 744
  • 24 Dec 2020
Topic Review
Rhabdoid Tumor Predisposition Syndrome
Rhabdoid tumor predisposition syndrome (RTPS) is characterized by a high risk of developing cancerous (malignant) growths called rhabdoid tumors.
  • 744
  • 24 Dec 2020
Topic Review
CLN2 Disease
CLN2 disease is an inherited disorder that primarily affects the nervous system. The signs and symptoms of this condition typically begin between ages 2 and 4. The initial features usually include recurrent seizures (epilepsy) and difficulty coordinating movements (ataxia). Affected children also develop muscle twitches (myoclonus) and vision loss. CLN2 disease affects motor skills, such as sitting and walking, and speech development. This condition also causes the loss of previously acquired skills (developmental regression), intellectual disability that gradually gets worse, and behavioral problems. Individuals with this condition often require the use of a wheelchair by late childhood and typically do not survive past their teens.
  • 744
  • 24 Dec 2020
Topic Review
LncRNAs Display Circadian Rhythmicity in Zebrafish Larvae
Long noncoding RNAs (lncRNAs) have been shown to play crucial roles in various life processes, including circadian rhythms. Although next generation sequencing technologies have facilitated faster profiling of lncRNAs, the resulting datasets require sophisticated computational analyses. In particular, the regulatory roles of lncRNAs in circadian clocks are far from being completely understood.
  • 744
  • 07 Dec 2021
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