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Topic Review
CEBPA Gene
CCAAT enhancer binding protein alpha
  • 836
  • 24 Dec 2020
Topic Review
X-linked Juvenile Retinoschisis
X-linked juvenile retinoschisis is a condition characterized by impaired vision that begins in childhood and occurs almost exclusively in males.
  • 836
  • 24 Dec 2020
Topic Review
TINF2 Gene
TERF1 interacting nuclear factor 2 (TINF2): The TINF2 gene provides instructions for making part of the shelterin protein complex.
  • 836
  • 25 Dec 2020
Topic Review
Dystonia 16
Dystonia 16 is one of many forms of dystonia, which is a group of conditions characterized by involuntary movements, twisting (torsion) and tensing of various muscles, and unusual positioning of affected body parts. Dystonia 16 can appear at any age from infancy through adulthood, although it most often begins in childhood.
  • 835
  • 25 Dec 2020
Topic Review
NF1 Gene
neurofibromin 1
  • 834
  • 23 Dec 2020
Topic Review
INSR Gene
Insulin receptor
  • 834
  • 23 Dec 2020
Topic Review
LRP5 Gene
LDL receptor related protein 5
  • 834
  • 23 Dec 2020
Topic Review
CLN8 Disease
CLN8 disease is an inherited disorder that varies in severity and primarily affects the nervous system. The condition is generally separated into less-severe and more-severe forms, based on the types of signs and symptoms that develop and life expectancy.
  • 834
  • 05 Apr 2021
Topic Review
Miller Syndrome
Miller syndrome is a rare condition that mainly affects the development of the face and limbs. The severity of this disorder varies among affected individuals.
  • 833
  • 23 Dec 2020
Topic Review
Kearns-Sayre Syndrome
Kearns-Sayre syndrome is a condition that affects many parts of the body, especially the eyes. The features of Kearns-Sayre syndrome usually appear before age 20, and the condition is diagnosed by a few characteristic signs and symptoms.
  • 833
  • 23 Dec 2020
Topic Review
Poikiloderma with Neutropenia
Poikiloderma with neutropenia (PN) is a disorder that mainly affects the skin and the immune system.
  • 833
  • 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.
  • 833
  • 24 Dec 2020
Topic Review
HLRCC
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a disorder in which affected individuals tend to develop benign tumors containing smooth muscle tissue (leiomyomas) in the skin and, in females, the uterus. This condition also increases the risk of kidney cancer.
  • 832
  • 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.
  • 832
  • 23 Dec 2020
Topic Review
Birt-Hogg-Dubé Syndrome
Birt-Hogg-Dubé syndrome is a rare disorder that affects the skin and lungs and increases the risk of certain types of tumors. Its signs and symptoms vary among affected individuals.
  • 832
  • 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.
  • 832
  • 25 Dec 2020
Topic Review
Nonsyndromic Holoprosencephaly
Nonsyndromic holoprosencephaly is an abnormality of brain development that also affects the head and face.
  • 831
  • 24 Dec 2020
Topic Review
DUX4 Gene
Double Homeobox 4
  • 831
  • 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.
  • 831
  • 24 Dec 2020
Topic Review
Melnick-Needles Syndrome
Melnick-Needles syndrome is a disorder involving abnormalities in skeletal development and other health problems.
  • 830
  • 23 Dec 2020
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