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Topic Review
DMD Gene
Dystrophin: DMD, the largest known human gene, provides instructions for making a protein called dystrophin. 
  • 820
  • 24 Dec 2020
Topic Review
TK2-MDS
TK2-related mitochondrial DNA depletion syndrome, myopathic form (TK2-MDS) is an inherited condition that causes progressive muscle weakness (myopathy).
  • 819
  • 23 Dec 2020
Topic Review
TWNK Gene
Twinkle mtDNA helicase.
  • 819
  • 23 Dec 2020
Topic Review
Jervell and Lange-Nielsen Syndrome
Jervell and Lange-Nielsen syndrome is a condition that causes profound hearing loss from birth and a disruption of the heart's normal rhythm (arrhythmia).
  • 819
  • 23 Dec 2020
Topic Review
Leprosy
Leprosy, also called Hansen disease, is a disorder known since ancient times. It is caused by bacteria called Mycobacterium leprae and is contagious, which means that it can be passed from person to person.
  • 819
  • 23 Dec 2020
Topic Review
SLC25A15 Gene
solute carrier family 25 member 15
  • 819
  • 24 Dec 2020
Topic Review
F12 Gene
Coagulation factor XII
  • 819
  • 24 Dec 2020
Topic Review
POLR3B Gene
RNA polymerase III subunit B
  • 819
  • 25 Dec 2020
Topic Review
SLC25A4 Gene
solute carrier family 25 member 4
  • 818
  • 24 Dec 2020
Topic Review
TGFBR2 Gene
Transforming growth factor beta receptor 2: The TGFBR2 gene provides instructions for making a protein called transforming growth factor-beta (TGF-β) receptor type 2. 
  • 818
  • 25 Dec 2020
Topic Review
PDGFRB Gene
platelet derived growth factor receptor beta
  • 818
  • 25 Dec 2020
Topic Review
MSH6 Gene
mutS homolog 6
  • 818
  • 23 Dec 2020
Topic Review
GLDC Gene
Glycine Decarboxylase
  • 817
  • 23 Dec 2020
Topic Review
NTRK1 Gene
neurotrophic receptor tyrosine kinase 1
  • 817
  • 24 Dec 2020
Topic Review
PARK7 Gene
Parkinsonism associated deglycase
  • 817
  • 25 Dec 2020
Topic Review
ANK2 Gene
ankyrin 2. The ANK2 gene provides instructions for making a protein called ankyrin-B. 
  • 816
  • 24 Dec 2020
Topic Review
BEST1 Gene
bestrophin 1
  • 816
  • 24 Dec 2020
Topic Review
SCN8A-Related Epilepsy with Encephalopathy
SCN8A-related epilepsy with encephalopathy is a condition characterized by recurrent seizures (epilepsy), abnormal brain function (encephalopathy), and intellectual disability. The signs and symptoms of this condition typically begin in infancy.
  • 816
  • 24 Dec 2020
Topic Review
SLC40A1 Gene
solute carrier family 40 member 1
  • 816
  • 24 Dec 2020
Topic Review
OPA3 Gene
OPA3, outer mitochondrial membrane lipid metabolism regulator
  • 816
  • 24 Dec 2020
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