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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.
  • 732
  • 25 Dec 2020
Topic Review
PITX2 Gene
paired like homeodomain 2
  • 732
  • 25 Dec 2020
Topic Review
Isolated Sulfite Oxidase Deficiency
Isolated sulfite oxidase deficiency (ISOD) is a disorder of the nervous system, with a severe "classic" form that starts in the newborn period and a milder, late-onset form that begins later in infancy or early childhood.
  • 731
  • 23 Dec 2020
Topic Review
Achromatopsia
Achromatopsia is a condition characterized by a partial or total absence of color vision. People with complete achromatopsia cannot perceive any colors; they see only black, white, and shades of gray. Incomplete achromatopsia is a milder form of the condition that allows some color discrimination.
  • 731
  • 23 Dec 2020
Topic Review
RUNX1 Gene
runt related transcription factor 1
  • 731
  • 24 Dec 2020
Topic Review
DNMT3A Overgrowth Syndrome
DNMT3A overgrowth syndrome is a disorder characterized by faster than normal growth before and after birth, subtle differences in facial features, and intellectual disability.
  • 731
  • 24 Dec 2020
Topic Review
GLUT1 Deficiency Syndrome
GLUT1 deficiency syndrome is a disorder affecting the nervous system that can have a variety of neurological signs and symptoms.
  • 730
  • 23 Dec 2020
Topic Review
Junctional Epidermolysis Bullosa
Junctional epidermolysis bullosa (JEB) is a major form of epidermolysis bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily.
  • 730
  • 23 Dec 2020
Topic Review
CYP24A1 Gene
Cytochrome P450 Family 24 Subfamily A Member 1
  • 730
  • 23 Dec 2020
Topic Review
ATP1A3 Gene
ATPase Na+/K+ transporting subunit alpha 3
  • 730
  • 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.
  • 730
  • 24 Dec 2020
Topic Review
FOXN1 Gene
Forkhead box N1
  • 730
  • 25 Dec 2020
Topic Review
Vocal Deficits in Parkinson’s Disease
This reviews vocalization deficits in models of Parkinson disease.
  • 730
  • 29 Jul 2021
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.
  • 730
  • 24 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.
  • 729
  • 23 Dec 2020
Topic Review
SMARCA4 Gene
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
  • 729
  • 24 Dec 2020
Topic Review
FOXC1 Gene
Forkhead box C1
  • 729
  • 25 Dec 2020
Topic Review
STAMBP Gene
STAM binding protein: The STAMBP gene provides instructions for making a protein called STAM binding protein.
  • 728
  • 22 Dec 2020
Topic Review
MPZ Gene
myelin protein zero
  • 728
  • 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. 
  • 728
  • 01 May 2021
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