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Topic Review
ISCU Gene
Iron-sulfur cluster assembly enzyme
  • 692
  • 23 Dec 2020
Topic Review
Childhood Absence Epilepsy
Childhood absence epilepsy is a condition characterized by recurrent seizures (epilepsy).
  • 692
  • 24 Dec 2020
Topic Review
RMRP Gene
RNA component of mitochondrial RNA processing endoribonuclease
  • 692
  • 24 Dec 2020
Topic Review
Milroy Disease
Milroy disease is a condition that affects the normal function of the lymphatic system.
  • 691
  • 23 Dec 2020
Topic Review
LAMP2 Gene
Lysosomal associated membrane protein 2
  • 691
  • 23 Dec 2020
Topic Review
CYP7B1 Gene
Cytochrome P450 Family 7 Subfamily B Member 1
  • 691
  • 23 Dec 2020
Topic Review
WFS1 Gene
Wolframin ER transmembrane glycoprotein.
  • 691
  • 24 Dec 2020
Topic Review
Combined Oxidative Phosphorylation Deficiency 1
Combined oxidative phosphorylation deficiency 1 is a severe condition that primarily impairs neurological and liver function.
  • 691
  • 24 Dec 2020
Topic Review
COL4A1 Gene
collagen type IV alpha 1 chain
  • 691
  • 24 Dec 2020
Topic Review
SLC25A13 Gene
solute carrier family 25 member 13
  • 691
  • 24 Dec 2020
Topic Review
KCNT1 Gene
Potassium sodium-activated channel subfamily T member 1
  • 691
  • 23 Dec 2020
Topic Review
Ghosal Hematodiaphyseal Dysplasia
Ghosal hematodiaphyseal dysplasia is a rare inherited condition characterized by abnormally thick bones and a shortage of red blood cells (anemia). Signs and symptoms of the condition become apparent in early childhood.
  • 690
  • 23 Dec 2020
Topic Review
HSD17B10 Gene
Hydroxysteroid 17-beta dehydrogenase 10
  • 690
  • 23 Dec 2020
Topic Review
LMNA-Related Congenital Muscular Dystrophy
LMNA-related congenital muscular dystrophy (L-CMD) is a condition that primarily affects muscles used for movement (skeletal muscles). It is part of a group of genetic conditions called congenital muscular dystrophies, which cause weak muscle tone (hypotonia) and muscle wasting (atrophy) beginning very early in life.
  • 690
  • 23 Dec 2020
Topic Review
DNAJC5 Gene
DnaJ Heat Shock Protein Family (Hsp40) Member C5
  • 690
  • 24 Dec 2020
Topic Review
CLCF1 Gene
cardiotrophin like cytokine factor 1
  • 690
  • 24 Dec 2020
Topic Review
Monilethrix
Monilethrix is a condition that affects hair growth. Its most characteristic feature is that individual strands of hair have a beaded appearance like the beads of a necklace. The name monilethrix comes from the Latin word for necklace (monile) and the Greek word for hair (thrix). Noticeable when viewed under a microscope, the beaded appearance is due to periodic narrowing of the hair shaft. People with monilethrix also have sparse hair growth (hypotrichosis) and short, brittle hair that breaks easily.
  • 689
  • 23 Dec 2020
Topic Review
ATP6V0A4 Gene
ATPase H+ transporting V0 subunit a4
  • 689
  • 24 Dec 2020
Topic Review
Epigenetic Dysregulation of KCNK9 Imprinting and TNBC
Genomic imprinting is an inherited form of parent-of-origin specific epigenetic gene regulation that is dysregulated by poor prenatal nutrition and environmental toxins. KCNK9 encodes for TASK3, a pH-regulated potassium channel membrane protein that is overexpressed in 40% of breast cancer. However, KCNK9 gene amplification accounts for increased expression in <10% of these breast cancers.
  • 689
  • 15 Dec 2021
Topic Review
Pseudoxanthoma Elasticum
Pseudoxanthoma elasticum (PXE) is a progressive disorder that is characterized by the accumulation of deposits of calcium and other minerals (mineralization) in elastic fibers.
  • 688
  • 24 Dec 2020
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