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Topic Review
KCNQ1 Gene
Potassium voltage-gated channel subfamily Q member 1
  • 726
  • 23 Dec 2020
Topic Review
Lattice Corneal Dystrophy Type I
Lattice corneal dystrophy type I is an eye disorder that affects the clear, outer covering of the eye called the cornea.
  • 726
  • 23 Dec 2020
Topic Review
BOLA3 Gene
bolA family member 3
  • 726
  • 24 Dec 2020
Topic Review
DVL1 Gene
Dishevelled Segment Polarity Protein 1
  • 726
  • 24 Dec 2020
Topic Review
Cranioectodermal Dysplasia
Cranioectodermal dysplasia is a disorder that affects many parts of the body. The most common features involve bone abnormalities and abnormal development of certain tissues known as ectodermal tissues, which include the skin, hair, nails, and teeth. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.
  • 726
  • 24 Dec 2020
Topic Review
TIMM8A Gene
Translocase of inner mitochondrial membrane 8A: The TIMM8A gene provides instructions for making a protein that is found inside mitochondria, which are structures within cells that convert the energy from food into a form that cells can use.
  • 726
  • 25 Dec 2020
Topic Review
Isolated Growth Hormone Deficiency
Isolated growth hormone deficiency is a condition caused by a severe shortage or absence of growth hormone.
  • 725
  • 23 Dec 2020
Topic Review
LZTR1 Gene
Leucine zipper like transcription regulator 1
  • 725
  • 23 Dec 2020
Topic Review
RAI1 Gene
retinoic acid induced 1
  • 725
  • 23 Dec 2020
Topic Review
SCN9A Gene
sodium voltage-gated channel alpha subunit 9
  • 725
  • 24 Dec 2020
Topic Review
CACNA1S Gene
calcium voltage-gated channel subunit alpha1 S
  • 725
  • 24 Dec 2020
Topic Review
Carnitine Palmitoyltransferase I Deficiency
Carnitine palmitoyltransferase I (CPT I) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). The severity of this condition varies among affected individuals.
  • 725
  • 24 Dec 2020
Topic Review
YY1AP1 Gene
YY1 associated protein 1: the YY1AP1 gene provides instructions for making part of a group of associated proteins known as the INO80 chromatin remodeling complex. 
  • 724
  • 24 Dec 2020
Topic Review
NOP56 Gene
NOP56 ribonucleoprotein
  • 724
  • 24 Dec 2020
Topic Review
DICER1 Syndrome
DICER1 syndrome is an inherited disorder that increases the risk of a variety of cancerous and noncancerous (benign) tumors, most commonly certain types of tumors that occur in the lungs, kidneys, ovaries, and thyroid (a butterfly-shaped gland in the lower neck). Affected individuals can develop one or more types of tumors, and members of the same family can have different types. However, the risk of tumor formation in individuals with DICER1 syndrome is only moderately increased compared with tumor risk in the general population; most individuals with genetic changes associated with this condition never develop tumors.
  • 724
  • 24 Dec 2020
Topic Review
WNK1 Gene
WNK lysine deficient protein kinase 1.
  • 724
  • 24 Dec 2020
Topic Review
Congenital Diaphragmatic Hernia
Congenital diaphragmatic hernia is a defect in the diaphragm.
  • 724
  • 24 Dec 2020
Topic Review
Spastic Paraplegia Type 49
Spastic paraplegia type 49 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. The pure types involve only the lower limbs, whereas the complex types also involve the upper limbs (to a lesser degree) and other problems with the nervous system. Spastic paraplegia type 49 is a complex hereditary spastic paraplegia.  
  • 723
  • 23 Dec 2020
Topic Review
TUBA1A Gene
Tubulin alpha 1a.
  • 723
  • 23 Dec 2020
Topic Review
COL6A3 Gene
collagen type VI alpha 3 chain
  • 723
  • 24 Dec 2020
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