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Topic Review
Microcephaly-Capillary Malformation Syndrome
Microcephaly-capillary malformation syndrome is an inherited disorder characterized by an abnormally small head size (microcephaly) and abnormalities of small blood vessels in the skin called capillaries (capillary malformations).
  • 651
  • 23 Dec 2020
Topic Review
Nail-patella Syndrome
Nail-patella syndrome is characterized by abnormalities of the nails, knees, elbows, and pelvis. The features of nail-patella syndrome vary in severity between affected individuals, even among members of the same family.
  • 651
  • 23 Dec 2020
Topic Review
PSAP Gene
prosaposin
  • 651
  • 23 Dec 2020
Topic Review
RAB27A Gene
RAB27A, member RAS oncogene family
  • 651
  • 23 Dec 2020
Topic Review
AVPR2 Gene
arginine vasopressin receptor 2
  • 651
  • 24 Dec 2020
Topic Review
D-bifunctional Protein Deficiency
D-bifunctional protein deficiency is a disorder that causes deterioration of nervous system functions (neurodegeneration) beginning in infancy.
  • 651
  • 24 Dec 2020
Topic Review
HTRA1 Gene
HtrA serine peptidase 1
  • 650
  • 23 Dec 2020
Topic Review
KIF1B Gene
Kinesin family member 1B
  • 650
  • 23 Dec 2020
Topic Review
GP1BA Gene
Glycoprotein Ib platelet subunit alpha
  • 649
  • 22 Dec 2020
Topic Review
MYH11 Gene
myosin heavy chain 11
  • 649
  • 23 Dec 2020
Topic Review
Microvillus Inclusion Disease
Microvillus inclusion disease is a condition characterized by chronic, watery, life-threatening diarrhea typically beginning in the first hours to days of life. Rarely, the diarrhea starts around age 3 or 4 months. Food intake increases the frequency of diarrhea.
  • 648
  • 23 Dec 2020
Topic Review
HSPB8 Gene
Heat shock protein family B (small) member 8
  • 646
  • 23 Dec 2020
Topic Review
Genomic Instability Evolutionary Footprints on Human Health
Genomic instability comprises not only the accumulation of mutations but also telomeric shortening, epigenetic alterations and other mechanisms that could contribute to genomic information conservation or corruption. 
  • 646
  • 30 Aug 2023
Topic Review
Lysosomal Acid Lipase Deficiency
Lysosomal acid lipase deficiency is an inherited condition characterized by problems with the breakdown and use of fats and cholesterol in the body (lipid metabolism).
  • 645
  • 24 Dec 2020
Topic Review
TBXAS1 Gene
Thromboxane A synthase 1: The TBXAS1 gene provides instructions for making an enzyme called thromboxane A synthase 1.
  • 645
  • 24 Dec 2020
Topic Review
Mal de Meleda
Mal de Meleda is a rare skin disorder that begins in early infancy.
  • 644
  • 23 Dec 2020
Topic Review
Greig Cephalopolysyndactyly Syndrome
Greig cephalopolysyndactyly syndrome is a disorder that affects development of the limbs, head, and face. The features of this syndrome are highly variable, ranging from very mild to severe.
  • 644
  • 23 Dec 2020
Topic Review
HRAS Gene
HRas proto-oncogene, GTPase
  • 644
  • 23 Dec 2020
Topic Review
GNAT2 Gene
G protein subunit alpha transducin 2
  • 643
  • 22 Dec 2020
Topic Review
MT-ND4L Gene
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L
  • 643
  • 23 Dec 2020
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