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Topic Review
EYA1 Gene
EYA transcriptional coactivator and phosphatase 1
  • 716
  • 24 Dec 2020
Topic Review
HLA-DQB1 Gene
Major histocompatibility complex, class II, DQ beta 1
  • 715
  • 22 Dec 2020
Topic Review
Isolated Growth Hormone Deficiency
Isolated growth hormone deficiency is a condition caused by a severe shortage or absence of growth hormone.
  • 715
  • 23 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.
  • 715
  • 24 Dec 2020
Topic Review
Behçet Disease
Behçet disease is an inflammatory condition that affects many parts of the body. The health problems associated with Behçet disease result from widespread inflammation of blood vessels (vasculitis). This inflammation most commonly affects small blood vessels in the mouth, genitals, skin, and eyes.
  • 715
  • 24 Dec 2020
Topic Review
TIMM8A Gene
Translocase of inner mitochondrial membrane 8A: The TIMM8A gene provides instructions for making a protein that is found inside mitochondria, which are structures within cells that convert the energy from food into a form that cells can use.
  • 715
  • 25 Dec 2020
Topic Review
PGT-A for Elderly maternal
Preimplantation genetic testing for aneuploidies (PGT-A) is widely used in women of advanced maternal age (AMA). However, the effectiveness remains controversial.
  • 715
  • 18 Sep 2021
Topic Review
MVK Gene
mevalonate kinase
  • 714
  • 23 Dec 2020
Topic Review
Alternating Hemiplegia of Childhood
Alternating hemiplegia of childhood is a neurological condition characterized by recurrent episodes of temporary paralysis, often affecting one side of the body (hemiplegia). During some episodes, the paralysis alternates from one side of the body to the other or affects both sides at the same time. These episodes begin in infancy or early childhood, usually before 18 months of age, and the paralysis lasts from minutes to days.
  • 714
  • 24 Dec 2020
Topic Review
CRLF1 Gene
cytokine receptor like factor 1
  • 714
  • 24 Dec 2020
Topic Review
TUBA1A Gene
Tubulin alpha 1a.
  • 714
  • 23 Dec 2020
Topic Review
Idiopathic Infantile Hypercalcemia
Idiopathic infantile hypercalcemia is a condition characterized by high levels of calcium in the blood (hypercalcemia). Two types of idiopathic infantile hypercalcemia have been identified and are distinguished by their genetic causes: infantile hypercalcemia 1 and infantile hypercalcemia 2.
  • 713
  • 23 Dec 2020
Topic Review
ATP2C1 Gene
ATPase secretory pathway Ca2+ transporting 1
  • 713
  • 24 Dec 2020
Topic Review
Atypical Hemolytic-Uremic Syndrome
Atypical hemolytic-uremic syndrome is a disease that primarily affects kidney function. This condition, which can occur at any age, causes abnormal blood clots (thrombi) to form in small blood vessels in the kidneys. These clots can cause serious medical problems if they restrict or block blood flow. Atypical hemolytic-uremic syndrome is characterized by three major features related to abnormal clotting: hemolytic anemia, thrombocytopenia, and kidney failure.
  • 713
  • 24 Dec 2020
Topic Review
DSC2 Gene
Desmocollin 2: The DSC2 gene provides instructions for making a protein called desmocollin-2. 
  • 713
  • 24 Dec 2020
Topic Review
CACNA1S Gene
calcium voltage-gated channel subunit alpha1 S
  • 713
  • 24 Dec 2020
Topic Review
LAMA3 Gene
Laminin subunit alpha 3
  • 712
  • 23 Dec 2020
Topic Review
Lattice Corneal Dystrophy Type I
Lattice corneal dystrophy type I is an eye disorder that affects the clear, outer covering of the eye called the cornea.
  • 712
  • 23 Dec 2020
Topic Review
Carnitine Palmitoyltransferase I Deficiency
Carnitine palmitoyltransferase I (CPT I) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). The severity of this condition varies among affected individuals.
  • 712
  • 24 Dec 2020
Topic Review
Melorheostosis
Melorheostosis is a rare bone disease.
  • 711
  • 23 Dec 2020
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