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Topic Review
PAX2 Gene
paired box 2
  • 901
  • 25 Dec 2020
Topic Review
TNFRSF11A Gene
TNF receptor superfamily member 11a: The TNFRSF11A gene provides instructions for making a protein called receptor activator of NF-κB (RANK).
  • 901
  • 25 Dec 2020
Topic Review
KRAS Gene
KRAS proto-oncogene, GTPase
  • 900
  • 23 Dec 2020
Topic Review
CXCR4 Gene
C-X-C Motif Chemokine Receptor 4
  • 900
  • 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. 
  • 900
  • 24 Dec 2020
Topic Review
Biotinidase Deficiency
Biotinidase deficiency is an inherited disorder in which the body is unable to recycle the vitamin biotin. If this condition is not recognized and treated, its signs and symptoms typically appear within the first few months of life, although it can also become apparent later in childhood.
  • 900
  • 24 Dec 2020
Topic Review
FLI1 Gene
Fli-1 proto-oncogene, ETS transcription factor
  • 900
  • 25 Dec 2020
Topic Review
CLN6 Disease
CLN6 disease is an inherited disorder that primarily affects the nervous system. The signs and symptoms of this condition typically begin between early and late childhood, but sometimes they can appear in adulthood.
  • 899
  • 24 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.
  • 899
  • 13 Mar 2023
Topic Review
CYP2C19 Gene
Cytochrome P450 Family 2 Subfamily C Member 19
  • 898
  • 23 Dec 2020
Topic Review
Congenital Leptin Deficiency
Congenital leptin deficiency is a condition that causes severe obesity beginning in the first few months of life.
  • 898
  • 24 Dec 2020
Topic Review
C8B Gene
complement C8 beta chain
  • 898
  • 24 Dec 2020
Topic Review
PAFAH1B1 Gene
platelet activating factor acetylhydrolase 1b regulatory subunit 1
  • 898
  • 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.
  • 897
  • 23 Dec 2020
Topic Review
Isolated Lissencephaly Sequence
Isolated lissencephaly sequence (ILS) is a condition that affects brain development before birth.
  • 897
  • 23 Dec 2020
Topic Review
Familial Cylindromatosis
Familial cylindromatosis is a condition involving multiple skin tumors that develop from structures associated with the skin (skin appendages), such as hair follicles and sweat glands. People with familial cylindromatosis typically develop large numbers of tumors called cylindromas. While previously thought to derive from sweat glands, cylindromas are now generally believed to begin in hair follicles.
  • 897
  • 25 Dec 2020
Topic Review
PFKM Gene
phosphofructokinase, muscle
  • 897
  • 25 Dec 2020
Topic Review
TNFRSF13B Gene
TNF receptor superfamily member 13B: The TNFRSF13B gene provides instructions for making a protein called TACI.
  • 897
  • 25 Dec 2020
Topic Review
Deafness-dystonia-optic Neuronopathy Syndrome
Deafness-dystonia-optic neuronopathy (DDON) syndrome, also known as Mohr-Tranebjærg syndrome, is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems. This condition occurs almost exclusively in males.
  • 896
  • 24 Dec 2020
Topic Review
Mismatch Repair Genes in Lynch Syndrome
Hereditary non-polyposis colorectal cancer is also known as Lynch syndrome. Lynch syndrome is associated with pathogenetic variants in one of the mismatch repair (MMR) genes.
  • 896
  • 28 Dec 2022
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