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Topic Review
FMR1 Gene
Fragile X mental retardation 1
  • 814
  • 25 Dec 2020
Topic Review
OGT (Gene)
UDP-N-acetylglucosamine—peptide N-acetylglucosaminyltransferase (EC 2.4.1.255), also known as O-linked β-N-acetylglucosamine transferase and O-GlcNAc transferase, OGT is an enzyme that in humans is encoded by the OGT gene.
  • 814
  • 16 Nov 2022
Topic Review
EBP Gene
EBP, cholestenol delta-isomerase
  • 814
  • 24 Dec 2020
Topic Review
SLC25A4 Gene
solute carrier family 25 member 4
  • 813
  • 24 Dec 2020
Topic Review
PIK3R2 Gene
phosphoinositide-3-kinase regulatory subunit 2
  • 813
  • 25 Dec 2020
Topic Review
Genes Involved in the Pathogenic Potential of Mucorales
The classification of Mucorales encompasses a collection of basal fungi that have traditionally demonstrated an aversion to modern genetic manipulation techniques. This aversion led to a scarcity of knowledge regarding their biology compared to other fungal groups. However, the emergence of mucormycosis, a fungal disease caused by Mucorales, has attracted the attention of the clinical field, mainly because available therapies are ineffective for decreasing the fatal outcome associated with the disease. 
  • 813
  • 22 Mar 2023
Topic Review
Deafness and Myopia Syndrome
Deafness and myopia syndrome is a disorder that causes problems with both hearing and vision.
  • 813
  • 24 Dec 2020
Topic Review
FGFR2 Gene
Fibroblast growth factor receptor 2: The FGFR2 gene provides instructions for making a protein called fibroblast growth factor receptor 2 (FGFR2). 
  • 812
  • 25 Dec 2020
Topic Review
Factor X Deficiency
Factor X deficiency is a rare bleeding disorder that varies in severity among affected individuals. The signs and symptoms of this condition can begin at any age, although the most severe cases are apparent in childhood.
  • 812
  • 25 Dec 2020
Topic Review
PARK7 Gene
Parkinsonism associated deglycase
  • 812
  • 25 Dec 2020
Topic Review
POLR3B Gene
RNA polymerase III subunit B
  • 812
  • 25 Dec 2020
Topic Review
Triple A Syndrome
Triple A syndrome is an inherited condition characterized by three specific features: achalasia, Addison disease, and alacrima.
  • 812
  • 23 Dec 2020
Topic Review
X-linked Myotubular Myopathy
X-linked myotubular myopathy is a condition that primarily affects muscles used for movement (skeletal muscles) and occurs almost exclusively in males. People with this condition have muscle weakness (myopathy) and decreased muscle tone (hypotonia) that are usually evident at birth.  
  • 811
  • 24 Dec 2020
Topic Review
SLC40A1 Gene
solute carrier family 40 member 1
  • 811
  • 24 Dec 2020
Topic Review
AKT3 Gene
AKT serine/threonine kinase 3
  • 811
  • 24 Dec 2020
Topic Review
Familial Osteochondritis Dissecans
Familial osteochondritis dissecans is a condition that affects the joints and is associated with abnormal cartilage. Cartilage is a tough but flexible tissue that covers the ends of the bones at joints and is also part of the developing skeleton.
  • 811
  • 25 Dec 2020
Topic Review
MTHFR Gene
methylenetetrahydrofolate reductase
  • 810
  • 23 Dec 2020
Topic Review
Koolen-de Vries Syndrome
Koolen-de Vries syndrome is a disorder characterized by developmental delay and mild to moderate intellectual disability. People with this disorder typically have a disposition that is described as cheerful, sociable, and cooperative. They usually have weak muscle tone (hypotonia) in childhood. About half have recurrent seizures (epilepsy).
  • 810
  • 23 Dec 2020
Topic Review
Benign Essential Blepharospasm
Benign essential blepharospasm is a condition characterized by abnormal blinking or spasms of the eyelids. This condition is a type of dystonia, which is a group of movement disorders involving uncontrolled tensing of the muscles (muscle contractions), rhythmic shaking (tremors), and other involuntary movements. Benign essential blepharospasm is different from the common, temporary eyelid twitching that can be caused by fatigue, stress, or caffeine.
  • 810
  • 24 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).
  • 809
  • 23 Dec 2020
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