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Topic Review
Koolen-de Vries Syndrome
Koolen-de Vries syndrome is a disorder characterized by developmental delay and mild to moderate intellectual disability. People with this disorder typically have a disposition that is described as cheerful, sociable, and cooperative. They usually have weak muscle tone (hypotonia) in childhood. About half have recurrent seizures (epilepsy).
  • 822
  • 23 Dec 2020
Topic Review
Graves Disease
Graves disease is a condition that affects the function of the thyroid, which is a butterfly-shaped gland in the lower neck.
  • 821
  • 23 Dec 2020
Topic Review
Benign Essential Blepharospasm
Benign essential blepharospasm is a condition characterized by abnormal blinking or spasms of the eyelids. This condition is a type of dystonia, which is a group of movement disorders involving uncontrolled tensing of the muscles (muscle contractions), rhythmic shaking (tremors), and other involuntary movements. Benign essential blepharospasm is different from the common, temporary eyelid twitching that can be caused by fatigue, stress, or caffeine.
  • 821
  • 24 Dec 2020
Topic Review
Krabbe Disease
Krabbe disease (also called globoid cell leukodystrophy) is a severe neurological condition. It is part of a group of disorders known as leukodystrophies, which result from the loss of myelin (demyelination) in the nervous system. Myelin is the protective covering around nerve cells that ensures the rapid transmission of nerve signals. Krabbe disease is also characterized by abnormal cells in the brain called globoid cells, which are large cells that usually have more than one nucleus.
  • 821
  • 23 Dec 2020
Topic Review
MTHFR Gene
methylenetetrahydrofolate reductase
  • 820
  • 23 Dec 2020
Topic Review
Triple A Syndrome
Triple A syndrome is an inherited condition characterized by three specific features: achalasia, Addison disease, and alacrima.
  • 820
  • 23 Dec 2020
Topic Review
RAB18 Deficiency
RAB18 deficiency causes two conditions with similar signs and symptoms that primarily affect the eyes, brain, and reproductive system. These two conditions, called Warburg micro syndrome and Martsolf syndrome, were once thought to be distinct disorders but are now considered to be part of the same disease spectrum because of their similar features and shared genetic cause.
  • 820
  • 24 Dec 2020
Topic Review
DMD Gene
Dystrophin: DMD, the largest known human gene, provides instructions for making a protein called dystrophin. 
  • 820
  • 24 Dec 2020
Topic Review
TK2-MDS
TK2-related mitochondrial DNA depletion syndrome, myopathic form (TK2-MDS) is an inherited condition that causes progressive muscle weakness (myopathy).
  • 819
  • 23 Dec 2020
Topic Review
RPL5 Gene
ribosomal protein L5
  • 819
  • 24 Dec 2020
Topic Review
SLC25A15 Gene
solute carrier family 25 member 15
  • 819
  • 24 Dec 2020
Topic Review
Primary Localized Cutaneous Amyloidosis
Primary localized cutaneous amyloidosis (PLCA) is a condition in which clumps of abnormal proteins called amyloids build up in the skin, specifically in the wave-like projections (dermal papillae) between the top two layers of skin (the dermis and the epidermis). The primary feature of PLCA is patches of skin with abnormal texture or color. The appearance of these patches defines three forms of the condition: lichen amyloidosis, macular amyloidosis, and nodular amyloidosis.
  • 819
  • 24 Dec 2020
Topic Review
FGF8 Gene
Fibroblast growth factor 8: The FGF8 gene provides instructions for making a protein called fibroblast growth factor 8 (FGF8). 
  • 819
  • 25 Dec 2020
Topic Review
Familial Osteochondritis Dissecans
Familial osteochondritis dissecans is a condition that affects the joints and is associated with abnormal cartilage. Cartilage is a tough but flexible tissue that covers the ends of the bones at joints and is also part of the developing skeleton.
  • 819
  • 25 Dec 2020
Topic Review
VACTERL Association
VACTERL association is a disorder that affects many body systems. VACTERL stands for vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.
  • 819
  • 23 Dec 2020
Topic Review
TWNK Gene
Twinkle mtDNA helicase.
  • 818
  • 23 Dec 2020
Topic Review
DSG4 Gene
Desmoglein 4: The DSG4 gene provides instructions for making a protein called desmoglein 4 (DSG4). 
  • 818
  • 24 Dec 2020
Topic Review
X-linked Myotubular Myopathy
X-linked myotubular myopathy is a condition that primarily affects muscles used for movement (skeletal muscles) and occurs almost exclusively in males. People with this condition have muscle weakness (myopathy) and decreased muscle tone (hypotonia) that are usually evident at birth.  
  • 818
  • 24 Dec 2020
Topic Review
TGFBR2 Gene
Transforming growth factor beta receptor 2: The TGFBR2 gene provides instructions for making a protein called transforming growth factor-beta (TGF-β) receptor type 2. 
  • 818
  • 25 Dec 2020
Topic Review
PDGFRB Gene
platelet derived growth factor receptor beta
  • 818
  • 25 Dec 2020
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