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Topic Review
DFNB1
Most DFNB1 phenotypes are described as prelingual and bilateral non-syndromic hearing loss, this being severe to profound. This type of deafness affects all frequencies and is not associated with inner ear malformations.
  • 878
  • 30 Aug 2021
Topic Review
Familial Paroxysmal Kinesigenic Dyskinesia
Familial paroxysmal kinesigenic dyskinesia is a disorder characterized by episodes of abnormal movement that range from mild to severe. In the condition name, the word paroxysmal indicates that the abnormal movements come and go over time, kinesigenic means that episodes are triggered by movement, and dyskinesia refers to involuntary movement of the body.
  • 878
  • 25 Dec 2020
Topic Review
Ollier Disease
Ollier disease is a disorder characterized by multiple enchondromas, which are noncancerous (benign) growths of cartilage that develop within the bones. These growths most commonly occur in the limb bones, especially in the bones of the hands and feet; however, they may also occur in the skull, ribs, and bones of the spine (vertebrae). Enchondromas may result in severe bone deformities, shortening of the limbs, and fractures.
  • 877
  • 24 Dec 2020
Topic Review
Cytochrome c Oxidase Deficiency
Cytochrome c oxidase deficiency is a genetic condition that can affect several parts of the body, including the muscles used for movement (skeletal muscles), the heart, the brain, or the liver. Signs and symptoms of cytochrome c oxidase deficiency usually begin before age 2 but can appear later in mildly affected individuals.
  • 877
  • 24 Dec 2020
Topic Review
TG Gene
Thyroglobulin: The TG gene provides instructions for making a protein called thyroglobulin, one of the largest proteins in the body. 
  • 877
  • 25 Dec 2020
Topic Review
PCSK9 Gene
Proprotein convertase subtilisin/kexin type 9
  • 877
  • 04 Jan 2021
Topic Review
ABCB11 Gene
ATP binding cassette subfamily B member 11
  • 877
  • 24 Dec 2020
Topic Review
Schwartz-Jampel Syndrome
Schwartz-Jampel syndrome is a rare condition characterized by permanent muscle stiffness (myotonia) and bone abnormalities known as chondrodysplasia.
  • 877
  • 24 Dec 2020
Topic Review
GRN-Related Frontotemporal Lobar Degeneration
GRN-related frontotemporal lobar degeneration is a progressive brain disorder that can affect behavior, language, and movement.
  • 876
  • 23 Dec 2020
Topic Review
Hereditary Xanthinuria
Hereditary xanthinuria is a condition that most often affects the kidneys. It is characterized by high levels of a compound called xanthine and very low levels of another compound called uric acid in the blood and urine.
  • 876
  • 23 Dec 2020
Topic Review
RET Gene
ret proto-oncogene
  • 876
  • 23 Dec 2020
Topic Review
TCIRG1 Gene
TCIRG1 Gene: T cell immune regulator 1, ATPase H+ transporting V0 subunit a3. The TCIRG1 gene provides instructions for making one part, the a3 subunit, of a large protein complex known as a vacuolar H+-ATPase (V-ATPase).
  • 876
  • 24 Dec 2020
Topic Review
Congenital Contractural Arachnodactyly
Congenital contractural arachnodactyly is a disorder that affects many parts of the body.
  • 876
  • 24 Dec 2020
Topic Review
FKTN Gene
Fukutin: The FKTN gene (formerly known as FCMD) provides instructions for making a protein called fukutin. 
  • 876
  • 25 Dec 2020
Topic Review
TGM1 Gene
Transglutaminase 1: The TGM1 gene provides instructions for making an enzyme called transglutaminase 1. 
  • 876
  • 25 Dec 2020
Topic Review
TMCO1 Gene
Transmembrane and coiled-coil domains 1: The TMCO1 gene provides instructions for making a protein that forms specialized structures called channels through which positively charged calcium atoms (calcium ions) flow.
  • 876
  • 25 Dec 2020
Topic Review
TPMT Gene
Thiopurine S-methyltransferase: The TPMT gene provides instructions for making an enzyme called thiopurine S-methyltransferase (TPMT).
  • 876
  • 25 Dec 2020
Topic Review
TRPV4 Gene
Transient receptor potential cation channel subfamily V member 4: The TRPV4 gene provides instructions for making a protein that acts as a calcium channel. 
  • 876
  • 25 Dec 2020
Topic Review
Glycogen Storage Disease Type III
Glycogen storage disease type III (also known as GSDIII or Cori disease) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles.
  • 875
  • 23 Dec 2020
Topic Review
Immune Thrombocytopenia
Immune thrombocytopenia is a disorder characterized by a blood abnormality called thrombocytopenia, which is a shortage of blood cells called platelets that are needed for normal blood clotting.
  • 875
  • 31 Dec 2020
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