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Topic Review
Koolen-de Vries Syndrome
Koolen-de Vries syndrome is a disorder characterized by developmental delay and mild to moderate intellectual disability. People with this disorder typically have a disposition that is described as cheerful, sociable, and cooperative. They usually have weak muscle tone (hypotonia) in childhood. About half have recurrent seizures (epilepsy).
  • 801
  • 23 Dec 2020
Topic Review
DCX Gene
Doublecortin: The DCX gene provides instructions for producing a protein called doublecortin. 
  • 801
  • 23 Dec 2020
Topic Review
Li-Fraumeni Syndrome
Li-Fraumeni syndrome is a rare disorder that greatly increases the risk of developing several types of cancer, particularly in children and young adults.
  • 801
  • 24 Dec 2020
Topic Review
Aromatase Deficiency
Aromatase deficiency is a condition characterized by reduced levels of the female sex hormone estrogen and increased levels of the male sex hormone testosterone.
  • 801
  • 24 Dec 2020
Topic Review
Phosphoglycerate Dehydrogenase Deficiency
Phosphoglycerate dehydrogenase deficiency is a condition characterized by an unusually small head size (microcephaly); impaired development of physical reactions, movements, and speech (psychomotor retardation); and recurrent seizures (epilepsy). Different types of phosphoglycerate dehydrogenase deficiency have been described; they are distinguished by their severity and the age at which symptoms first begin. Most affected individuals have the infantile form, which is the most severe form, and are affected from infancy. Symptoms of the juvenile and adult types appear later in life; these types are very rare.
  • 801
  • 24 Dec 2020
Topic Review
PDP1 Gene
pyruvate dehydrogenase phosphatase catalytic subunit 1
  • 801
  • 25 Dec 2020
Topic Review
TWNK Gene
Twinkle mtDNA helicase.
  • 800
  • 23 Dec 2020
Topic Review
Guanidinoacetate Methyltransferase Deficiency
Guanidinoacetate methyltransferase deficiency is an inherited disorder that primarily affects the brain and muscles.
  • 800
  • 23 Dec 2020
Topic Review
Isolated Ectopia Lentis
Isolated ectopia lentis is a condition that affects the eyes, specifically the positioning of the lens.
  • 800
  • 23 Dec 2020
Topic Review
Krabbe Disease
Krabbe disease (also called globoid cell leukodystrophy) is a severe neurological condition. It is part of a group of disorders known as leukodystrophies, which result from the loss of myelin (demyelination) in the nervous system. Myelin is the protective covering around nerve cells that ensures the rapid transmission of nerve signals. Krabbe disease is also characterized by abnormal cells in the brain called globoid cells, which are large cells that usually have more than one nucleus.
  • 800
  • 23 Dec 2020
Topic Review
SYNGAP1 Gene
Synaptic Ras GTPase activating protein 1: The SYNGAP1 gene provides instructions for making a protein, called SynGAP, that plays an important role in nerve cells in the brain. SynGAP is found at the junctions between nerve cells (synapses) where cell-to-cell communication takes place. 
  • 800
  • 24 Dec 2020
Topic Review
Benign Essential Blepharospasm
Benign essential blepharospasm is a condition characterized by abnormal blinking or spasms of the eyelids. This condition is a type of dystonia, which is a group of movement disorders involving uncontrolled tensing of the muscles (muscle contractions), rhythmic shaking (tremors), and other involuntary movements. Benign essential blepharospasm is different from the common, temporary eyelid twitching that can be caused by fatigue, stress, or caffeine.
  • 800
  • 24 Dec 2020
Topic Review
BEST1 Gene
bestrophin 1
  • 800
  • 24 Dec 2020
Topic Review
Carpal Tunnel Syndrome
Carpal tunnel syndrome is a disorder caused by disturbances in nerve function (neuropathy), leading to pain and numbness or tingling (paresthesia) primarily in the wrist and hand. While carpal tunnel syndrome can occur at any age, it most often affects people between the ages of 40 and 60. In more than half of cases, both hands are affected; however, the severity may vary between hands. When only one hand is affected, it is most often the hand used for writing (the dominant hand).
  • 800
  • 24 Dec 2020
Topic Review
GALK1 Gene
Galactokinase 1
  • 800
  • 25 Dec 2020
Topic Review
Detection of microRNAs
MicroRNAs (miRNA) include a set of short, noncoding proteins and small RNA molecules with a length of 20–24 nt, generated by the RNase-III-type enzyme Dicer from an endogenous transcript that contains a local hairpin structure. After unwinding, the miRNA forms part of the RNA-induced silencing complex (RISC) assembly and causes translational repression or mRNA degradation.
  • 800
  • 26 Jul 2021
Topic Review
Jervell and Lange-Nielsen Syndrome
Jervell and Lange-Nielsen syndrome is a condition that causes profound hearing loss from birth and a disruption of the heart's normal rhythm (arrhythmia).
  • 799
  • 23 Dec 2020
Topic Review
FA2H Gene
Fatty Acid 2-Hydroxylase: The FA2H gene provides instructions for making an enzyme called fatty acid 2-hydroxylase. 
  • 799
  • 25 Dec 2020
Topic Review
FRAS1 Gene
Fraser extracellular matrix complex subunit 1
  • 799
  • 25 Dec 2020
Topic Review
GJC2 Gene
Gap junction protein gamma 2
  • 799
  • 25 Dec 2020
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