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Topic Review
ATP1A3 Gene
ATPase Na+/K+ transporting subunit alpha 3
  • 735
  • 24 Dec 2020
Topic Review
Schimke Immuno-Osseous Dysplasia
Schimke immuno-osseous dysplasia is a condition characterized by short stature, kidney disease, and a weakened immune system.
  • 735
  • 24 Dec 2020
Topic Review
Hermansky-Pudlak Syndrome
Hermansky-Pudlak syndrome is a disorder characterized by a condition called oculocutaneous albinism, which causes abnormally light coloring (pigmentation) of the skin, hair, and eyes.
  • 735
  • 23 Dec 2020
Topic Review
CYB5R3 Gene
Cytochrome B5 Reductase 3: The CYB5R3 gene provides instruction for making an enzyme called cytochrome b5 reductase 3. 
  • 734
  • 01 May 2021
Topic Review
LCAT Gene
Lecithin-cholesterol acyltransferase
  • 734
  • 23 Dec 2020
Topic Review
Neuromyelitis Optica
Neuromyelitis optica is an autoimmune disorder that affects the nerves of the eyes and the central nervous system, which includes the brain and spinal cord. Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. In neuromyelitis optica, the autoimmune attack causes inflammation of the nerves, and the resulting damage leads to the signs and symptoms of the condition.
  • 734
  • 23 Dec 2020
Topic Review
RAD21 Gene
RAD21 cohesin complex component
  • 734
  • 23 Dec 2020
Topic Review
Coffin-Lowry Syndrome
Coffin-Lowry syndrome is a condition that affects many parts of the body. The signs and symptoms are usually more severe in males than in females, although the features of this disorder range from very mild to severe in affected women.
  • 734
  • 24 Dec 2020
Topic Review
Corticosterone Methyloxidase Deficiency
Corticosterone methyloxidase deficiency, also known as aldosterone synthase deficiency, is a disorder characterized by excessive amounts of sodium released in the urine (salt wasting), along with insufficient release of potassium in the urine, usually beginning in the first few weeks of life. This imbalance leads to low levels of sodium and high levels of potassium in the blood (hyponatremia and hyperkalemia, respectively). Individuals with corticosterone methyloxidase deficiency can also have high levels of acid in the blood (metabolic acidosis).
  • 734
  • 24 Dec 2020
Topic Review
MVK Gene
mevalonate kinase
  • 734
  • 23 Dec 2020
Topic Review
STAMBP Gene
STAM binding protein: The STAMBP gene provides instructions for making a protein called STAM binding protein.
  • 733
  • 22 Dec 2020
Topic Review
NFKBIA Gene
NFKB inhibitor alpha
  • 733
  • 23 Dec 2020
Topic Review
WNT5A Gene
Wnt family member 5A: The WNT5A gene is part of a large family of WNT genes, which play critical roles in development starting before birth. These genes provide instructions for making proteins that participate in chemical signaling pathways in the body.
  • 733
  • 24 Dec 2020
Topic Review
DOCK8 Immunodeficiency Syndrome
DOCK8 immunodeficiency syndrome is a disorder of the immune system. The condition is characterized by recurrent infections that are severe and can be life-threatening. The infections can be caused by bacteria, viruses, or fungi. Skin infections cause rashes, blisters, accumulations of pus (abscesses), open sores, and scaling. People with DOCK8 immunodeficiency syndrome also tend to have frequent bouts of pneumonia and other respiratory tract infections. Other immune system-related problems in people with DOCK8 immunodeficiency syndrome include an inflammatory skin disorder called eczema, food or environmental allergies, and asthma.
  • 733
  • 24 Dec 2020
Topic Review
GALNT3 Gene
Polypeptide N-acetylgalactosaminyltransferase 3
  • 733
  • 25 Dec 2020
Topic Review
Familial Dilated Cardiomyopathy
Familial dilated cardiomyopathy is a genetic form of heart disease. It occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure.
  • 733
  • 25 Dec 2020
Topic Review
Adenosine Deaminase 2 Deficiency
Adenosine deaminase 2 (ADA2) deficiency is a disorder characterized by abnormal inflammation of various tissues. Signs and symptoms can begin anytime from early childhood to adulthood. The severity of the disorder also varies, even among affected individuals in the same family.
  • 733
  • 24 Dec 2020
Topic Review
Costello Syndrome
Costello syndrome is a disorder that affects many parts of the body. This condition is characterized by delayed development and intellectual disability, loose folds of skin (which are especially noticeable on the hands and feet), unusually flexible joints, and distinctive facial features including a large mouth with full lips. Heart problems are common, including an abnormal heartbeat (arrhythmia), structural heart defects, and a type of heart disease that enlarges and weakens the heart muscle (hypertrophic cardiomyopathy). Infants with Costello syndrome may be larger than average at birth, but most have difficulty feeding and grow more slowly than other children. People with this condition have relatively short stature and may have reduced growth hormone levels. Other signs and symptoms of Costello syndrome can include tight Achilles tendons (which connect the calf muscles to the heel), weak muscle tone (hypotonia), a structural abnormality of the brain called a Chiari I malformation, skeletal abnormalities, dental problems, and problems with vision.
  • 732
  • 24 Dec 2020
Topic Review
USH2A Gene
Usherin.
  • 731
  • 23 Dec 2020
Topic Review
Iron-Refractory Iron Deficiency Anemia
Iron-refractory iron deficiency anemia is one of many types of anemia, which is a group of conditions characterized by a shortage of healthy red blood cells. This shortage prevents the blood from carrying an adequate supply of oxygen to the body's tissues.
  • 731
  • 23 Dec 2020
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