Your browser does not fully support modern features. Please upgrade for a smoother experience.
Subject:
All Disciplines Arts & Humanities Biology & Life Sciences Business & Economics Chemistry & Materials Science Computer Science & Mathematics Engineering Environmental & Earth Sciences Medicine & Pharmacology Physical Sciences Public Health & Healthcare Social Sciences
Sort by:
Most Viewed Latest Alphabetical (A-Z) Alphabetical (Z-A)
Filter:
All Topic Review Biography Peer Reviewed Entry Video Entry
Topic Review
TTPA Gene
Alpha tocopherol transfer protein.
  • 780
  • 23 Dec 2020
Topic Review
Idiopathic Inflammatory Myopathy
Idiopathic inflammatory myopathy is a group of disorders characterized by inflammation of the muscles used for movement (skeletal muscles).
  • 780
  • 23 Dec 2020
Topic Review
AMT Gene
aminomethyltransferase
  • 780
  • 24 Dec 2020
Topic Review
COL2A1 Gene
collagen type II alpha 1 chain
  • 780
  • 24 Dec 2020
Topic Review
OFD1 Gene
OFD1, centriole and centriolar satellite protein
  • 780
  • 24 Dec 2020
Topic Review
GRN Gene
Granulin precursor
  • 779
  • 22 Dec 2020
Topic Review
GTF2I Gene
General transcription factor IIi
  • 779
  • 22 Dec 2020
Topic Review
Spinocerebellar Ataxia Type 6
Spinocerebellar ataxia type 6 (SCA6) is a condition characterized by progressive problems with movement.
  • 779
  • 23 Dec 2020
Topic Review
Mosaic Variegated Aneuploidy Syndrome
Mosaic variegated aneuploidy (MVA) syndrome is a rare disorder in which some cells in the body have an abnormal number of chromosomes instead of the usual 46 chromosomes, a situation known as aneuploidy. Most commonly, cells have an extra chromosome, which is called trisomy, or are missing a chromosome, which is known as monosomy. In MVA syndrome, some cells are aneuploid and others have the normal number of chromosomes, which is a phenomenon known as mosaicism. Typically, at least one-quarter of cells in affected individuals have an abnormal number of chromosomes. Because the additional or missing chromosomes vary among the abnormal cells, the aneuploidy is described as variegated.
  • 779
  • 23 Dec 2020
Topic Review
ACAD9 Deficiency
ACAD9 deficiency is a condition that varies in severity and can cause muscle weakness (myopathy), heart problems, and intellectual disability. Nearly all affected individuals have a buildup of a chemical called lactic acid in the body (lactic acidosis). Additional signs and symptoms that affect other body systems occur in rare cases.
  • 779
  • 23 Dec 2020
Topic Review
Waldenström macroglobulinemia
Waldenström macroglobulinemia is a rare blood cell cancer characterized by an excess of abnormal white blood cells called lymphoplasmacytic cells in the bone marrow. This condition is classified as a lymphoplasmacytic lymphoma. The abnormal cells have characteristics of both white blood cells (lymphocytes) called B cells and of more mature cells derived from B cells known as plasma cells. These abnormal cells produce excess amounts of IgM, a type of protein known as an immunoglobulin; the overproduction of this large protein is how the condition got its name ("macroglobulinemia").  
  • 779
  • 23 Dec 2020
Topic Review
Autosomal Dominant Vitreoretinochoroidopathy
Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a disorder that affects several parts of the eyes, including the clear gel that fills the eye (the vitreous), the light-sensitive tissue that lines the back of the eye (the retina), and the network of blood vessels within the retina (the choroid). The eye abnormalities in ADVIRC can lead to varying degrees of vision impairment, from mild reduction to complete loss, although some people with the condition have normal vision.
  • 779
  • 24 Dec 2020
Topic Review
Congenital Myasthenic Syndrome
Congenital myasthenic syndrome is a group of conditions characterized by muscle weakness (myasthenia) that worsens with physical exertion.
  • 779
  • 24 Dec 2020
Topic Review
ORC4 Gene
origin recognition complex subunit 4
  • 779
  • 24 Dec 2020
Topic Review
MYH3 Gene
myosin heavy chain 3
  • 778
  • 23 Dec 2020
Topic Review
Renal Tubular Acidosis with Deafness
Renal tubular acidosis with deafness is a disorder characterized by kidney (renal) problems and hearing loss.
  • 778
  • 24 Dec 2020
Topic Review
FOXL2 Gene
Forkhead box L2
  • 778
  • 25 Dec 2020
Topic Review
KCNJ2 Gene
Potassium voltage-gated channel subfamily J member 2
  • 777
  • 23 Dec 2020
Topic Review
Lamellar Ichthyosis
Lamellar ichthyosis is a condition that mainly affects the skin.
  • 777
  • 23 Dec 2020
Topic Review
RGS9 Gene
regulator of G protein signaling 9
  • 777
  • 24 Dec 2020
  • Page
  • of
  • 135
Featured Entry Collections
>>

Featured Reprints

>>
Encyclopedia of Digital Society, Industry 5.0 and Smart City
Encyclopedia of Engineering
Encyclopedia of Social Sciences
Encyclopedia of Medieval Royal Iconography
Academic Video Service
Feedback