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Topic Review
XPA Gene
XPA, DNA damage recognition and repair factor: The XPA gene provides instructions for making a protein that is involved in repairing damaged DNA. DNA can be damaged by ultraviolet (UV) rays from the sun and by toxic chemicals, radiation, and unstable molecules called free radicals.
  • 813
  • 24 Dec 2020
Topic Review
ANK2 Gene
ankyrin 2. The ANK2 gene provides instructions for making a protein called ankyrin-B. 
  • 813
  • 24 Dec 2020
Topic Review
BEST1 Gene
bestrophin 1
  • 813
  • 24 Dec 2020
Topic Review
SLC40A1 Gene
solute carrier family 40 member 1
  • 813
  • 24 Dec 2020
Topic Review
GALK1 Gene
Galactokinase 1
  • 813
  • 25 Dec 2020
Topic Review
GJB2 Gene
Gap junction protein beta 2
  • 813
  • 25 Dec 2020
Topic Review
FA2H Gene
Fatty Acid 2-Hydroxylase: The FA2H gene provides instructions for making an enzyme called fatty acid 2-hydroxylase. 
  • 813
  • 25 Dec 2020
Topic Review
Glycogen Storage Disease Type V
Glycogen storage disease type V (also known as GSDV or McArdle disease) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in muscle cells. A lack of glycogen breakdown interferes with the function of muscle cells.
  • 813
  • 23 Dec 2020
Topic Review
Bart-Pumphrey Syndrome
Bart-Pumphrey syndrome is characterized by nail and skin abnormalities and hearing loss.
  • 812
  • 24 Dec 2020
Topic Review
SCN8A-Related Epilepsy with Encephalopathy
SCN8A-related epilepsy with encephalopathy is a condition characterized by recurrent seizures (epilepsy), abnormal brain function (encephalopathy), and intellectual disability. The signs and symptoms of this condition typically begin in infancy.
  • 812
  • 24 Dec 2020
Topic Review
Sepiapterin Reductase Deficiency
Sepiapterin reductase deficiency is a condition characterized by movement problems, most often a pattern of involuntary, sustained muscle contractions known as dystonia.
  • 812
  • 25 Dec 2020
Topic Review
Guanidinoacetate Methyltransferase Deficiency
Guanidinoacetate methyltransferase deficiency is an inherited disorder that primarily affects the brain and muscles.
  • 811
  • 23 Dec 2020
Topic Review
Huntington Disease
Huntington disease is a progressive brain disorder that causes uncontrolled movements, emotional problems, and loss of thinking ability (cognition).
  • 811
  • 23 Dec 2020
Topic Review
Keratoderma with Woolly Hair
Keratoderma with woolly hair is a group of related conditions that affect the skin and hair and in many cases increase the risk of potentially life-threatening heart problems.
  • 811
  • 23 Dec 2020
Topic Review
Ataxia-pancytopenia Syndrome
Ataxia-pancytopenia syndrome is a rare condition that affects the part of the brain that coordinates movement (the cerebellum) and blood-forming cells in the bone marrow. The age when signs and symptoms begin, the severity of the condition, and the rate at which it worsens all vary among affected individuals.
  • 811
  • 24 Dec 2020
Topic Review
SPINK5 Gene
serine peptidase inhibitor, Kazal type 5
  • 811
  • 24 Dec 2020
Topic Review
GJC2 Gene
Gap junction protein gamma 2
  • 811
  • 25 Dec 2020
Topic Review
Autosomal Recessive Hypotrichosis
Autosomal recessive hypotrichosis is a condition that affects hair growth. People with this condition have sparse hair (hypotrichosis) on the scalp beginning in infancy. This hair is usually coarse, dry, and tightly curled (often described as woolly hair). Scalp hair may also be lighter in color than expected and is fragile and easily broken. Affected individuals often cannot grow hair longer than a few inches. The eyebrows, eyelashes, and other body hair may be sparse as well. Over time, the hair problems can remain stable or progress to complete scalp hair loss (alopecia) and a decrease in body hair.
  • 811
  • 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.
  • 811
  • 24 Dec 2020
Topic Review
GLDC Gene
Glycine Decarboxylase
  • 810
  • 23 Dec 2020
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