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Topic Review
Glucose Phosphate Isomerase Deficiency
Glucose phosphate isomerase (GPI) deficiency is an inherited disorder that affects red blood cells, which carry oxygen to the body's tissues.
  • 857
  • 23 Dec 2020
Topic Review
Transthyretin Amyloidosis
Transthyretin amyloidosis is a slowly progressive condition characterized by the buildup of abnormal deposits of a protein called amyloid (amyloidosis) in the body's organs and tissues.
  • 857
  • 23 Dec 2020
Topic Review
PTEN Gene
phosphatase and tensin homolog
  • 857
  • 23 Dec 2020
Topic Review
GDF6 Gene
Growth differentiation factor 6
  • 857
  • 25 Dec 2020
Topic Review
PHOX2B Gene
paired like homeobox 2B
  • 857
  • 25 Dec 2020
Topic Review
Trisomy 18
Trisomy 18, also called Edwards syndrome, is a chromosomal condition associated with abnormalities in many parts of the body.
  • 856
  • 23 Dec 2020
Topic Review
Nonsyndromic Holoprosencephaly
Nonsyndromic holoprosencephaly is an abnormality of brain development that also affects the head and face.
  • 856
  • 24 Dec 2020
Topic Review
Congenital Stromal Corneal Dystrophy
Congenital stromal corneal dystrophy is an inherited eye disorder.
  • 856
  • 24 Dec 2020
Topic Review
DUX4 Gene
Double Homeobox 4
  • 856
  • 24 Dec 2020
Topic Review
CEBPA Gene
CCAAT enhancer binding protein alpha
  • 856
  • 24 Dec 2020
Topic Review
Poikiloderma with Neutropenia
Poikiloderma with neutropenia (PN) is a disorder that mainly affects the skin and the immune system.
  • 856
  • 24 Dec 2020
Topic Review
Progressive Familial Intrahepatic Cholestasis
Progressive familial intrahepatic cholestasis (PFIC) is a disorder that causes progressive liver disease, which typically leads to liver failure. In people with PFIC, liver cells are less able to secrete a digestive fluid called bile. The buildup of bile in liver cells causes liver disease in affected individuals.
  • 856
  • 24 Dec 2020
Topic Review
DYSF Gene
Dysferlin: The DYSF gene provides instructions for making a protein called dysferlin. 
  • 856
  • 24 Dec 2020
Topic Review
Lymphedema-Distichiasis Syndrome
Lymphedema-distichiasis syndrome is a condition that affects the normal function of the lymphatic system, which is a part of the circulatory and immune systems. The lymphatic system produces and transports fluids and immune cells throughout the body.
  • 855
  • 24 Dec 2020
Topic Review
Cushing Disease
Cushing disease is caused by elevated levels of a hormone called cortisol, which leads to a wide variety of signs and symptoms.
  • 855
  • 24 Dec 2020
Topic Review
Progressive External Ophthalmoplegia
Progressive external ophthalmoplegia is a condition characterized by weakness of the eye muscles. The condition typically appears in adults between ages 18 and 40 and slowly worsens over time.
  • 855
  • 24 Dec 2020
Topic Review
Floating-Harbor Syndrome
Floating-Harbor syndrome is a disorder involving short stature, slowing of the mineralization of the bones (delayed bone age), delayed speech development, and characteristic facial features. The condition is named for the hospitals where it was first described, the Boston Floating Hospital and Harbor General Hospital in Torrance, California.
  • 855
  • 25 Dec 2020
Topic Review
Hereditary Pancreatitis
Hereditary pancreatitis is a genetic condition characterized by recurrent episodes of inflammation of the pancreas (pancreatitis).
  • 854
  • 23 Dec 2020
Topic Review
ZFP57 Gene
ZFP57 zinc finger protein
  • 854
  • 24 Dec 2020
Topic Review
TCF4 Gene
Transcription factor 4: The TCF4 gene provides instructions for making a protein that attaches (binds) to specific regions of DNA and helps control the activity of many other genes.
  • 854
  • 24 Dec 2020
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