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Topic Review
Megalencephalic Leukoencephalopathy with Subcortical Cysts
Megalencephalic leukoencephalopathy with subcortical cysts is a progressive condition that affects brain development and function.
  • 893
  • 23 Dec 2020
Topic Review
Color Vision Deficiency
Color vision deficiency (sometimes called color blindness) represents a group of conditions that affect the perception of color. 
  • 893
  • 24 Dec 2020
Topic Review
FOXP2 Gene
Forkhead box P2
  • 893
  • 25 Dec 2020
Topic Review
Mitochondrial DNA of Physarum polycephalum
The mtDNA of the myxomycete Physarum polycephalum can contain as many as 81 genes. These genes can be grouped in three different categories. The first category includes 46 genes that are classically found on the mtDNA of many organisms. A second category of gene is putative protein-coding genes represented by 26 significant open reading frames. The third category of gene is found in the mtDNA of some strains of P. polycephalum. These genes derive from a linear mitochondrial plasmid with nine significant, but unassigned, open reading frames which can integrate into the mitochondrial DNA by recombination.
  • 893
  • 13 Mar 2023
Topic Review
Familial HDL Deficiency
Familial HDL deficiency is a condition characterized by low levels of high-density lipoprotei% (HDL) in the blood.
  • 893
  • 25 Dec 2020
Topic Review
CXCR4 Gene
C-X-C Motif Chemokine Receptor 4
  • 892
  • 23 Dec 2020
Topic Review
Isolated Lissencephaly Sequence
Isolated lissencephaly sequence (ILS) is a condition that affects brain development before birth.
  • 891
  • 23 Dec 2020
Topic Review
KRAS Gene
KRAS proto-oncogene, GTPase
  • 891
  • 23 Dec 2020
Topic Review
Psoriatic Arthritis
Psoriatic arthritis is a condition involving joint inflammation (arthritis) that usually occurs in combination with a skin disorder called psoriasis.
  • 891
  • 24 Dec 2020
Topic Review
CACNA1F Gene
calcium voltage-gated channel subunit alpha1 F
  • 891
  • 24 Dec 2020
Topic Review
PAX2 Gene
paired box 2
  • 891
  • 25 Dec 2020
Topic Review
POLG Gene
DNA polymerase gamma, catalytic subunit
  • 891
  • 25 Dec 2020
Topic Review
Spastic Paraplegia Type 3A
Spastic paraplegia type 3A is one of a group of genetic disorders known as hereditary spastic paraplegias.
  • 890
  • 23 Dec 2020
Topic Review
Czech Dysplasia
Czech dysplasia is an inherited condition that affects joint function and bone development.
  • 890
  • 19 Apr 2021
Topic Review
PAFAH1B1 Gene
platelet activating factor acetylhydrolase 1b regulatory subunit 1
  • 890
  • 25 Dec 2020
Topic Review
TNNT3 Gene
Troponin T3, fast skeletal type: The TNNT3 gene provides instructions for making one form of a protein called troponin T.
  • 890
  • 25 Dec 2020
Topic Review
PDGFRA Gene
platelet derived growth factor receptor alpha
  • 890
  • 25 Dec 2020
Topic Review
FLCN Gene
Folliculin
  • 889
  • 25 Dec 2020
Topic Review
PFKM Gene
phosphofructokinase, muscle
  • 889
  • 25 Dec 2020
Topic Review
Tyrosine Hydroxylase Deficiency
Tyrosine hydroxylase (TH) deficiency is a disorder that primarily affects movement, with symptoms that may range from mild to severe.  
  • 888
  • 23 Dec 2020
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