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Topic Review
SDHAF2 Gene
succinate dehydrogenase complex assembly factor 2
  • 698
  • 24 Dec 2020
Topic Review
ERCC2 Gene
ERCC excision repair 2, TFIIH core complex helicase subunit
  • 698
  • 24 Dec 2020
Topic Review
Preimplantation Genetic Testing for Cancer Predisposition Syndromes
Cancer Predisposition Syndromes (CPSs), also known as Hereditary Cancer Syndromes (HCSs), represent a group of genetic disorders associated with an increased lifetime risk of developing cancer.
  • 698
  • 20 Nov 2023
Topic Review
Hereditary Diffuse Gastric Cancer
Hereditary diffuse gastric cancer (HDGC) is an inherited disorder that greatly increases the chance of developing a form of stomach(gastric) cancer.
  • 697
  • 23 Dec 2020
Topic Review
ZEB2 Gene
Zinc finger E-box binding homeobox 2
  • 697
  • 24 Dec 2020
Topic Review
Choroideremia
Choroideremia is a condition characterized by progressive vision loss that mainly affects males.
  • 697
  • 24 Dec 2020
Topic Review
Dementia with Lewy Bodies
Dementia with Lewy bodies is a nervous system disorder characterized by a decline in intellectual function (dementia), a group of movement problems known as parkinsonism, visual hallucinations, sudden changes (fluctuations) in behavior and intellectual ability, and acting out dreams while asleep (REM sleep behavior disorder). This condition typically affects older adults, most often developing between ages 50 and 85. The life expectancy of individuals with dementia with Lewy bodies varies; people typically survive about 5 to 7 years after they are diagnosed.
  • 697
  • 24 Dec 2020
Topic Review
EXT1 Gene
Exostosin glycosyltransferase 1
  • 697
  • 24 Dec 2020
Topic Review
Atypical Femoral Fractures Related to Bisphosphonate Treatment
Atypical femoral fractures (AFF) are rare fragility fractures in the subtrocantheric or diaphysis femoral region associated with long-term bisphosphonate (BP) treatment. The etiology of AFF is still unclear even though a genetic basis is suggested. 
  • 697
  • 07 Feb 2022
Topic Review
MESP2 Gene
mesoderm posterior bHLH transcription factor 2
  • 696
  • 22 Dec 2020
Topic Review
Thiamine-responsive Megaloblastic Anemia Syndrome
Thiamine-responsive megaloblastic anemia syndrome is a rare condition characterized by hearing loss, diabetes, and a blood disorder called megaloblastic anemia.  
  • 696
  • 23 Dec 2020
Topic Review
TUBB4A Gene
Tubulin beta 4A class IVa.
  • 696
  • 23 Dec 2020
Topic Review
IL36RN Gene
Interleukin 36 receptor antagonist
  • 696
  • 23 Dec 2020
Topic Review
Mucopolysaccharidosis Type II
Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a condition that affects many different parts of the body and occurs almost exclusively in males. It is a progressively debilitating disorder; however, the rate of progression varies among affected individuals.
  • 696
  • 23 Dec 2020
Topic Review
Nonsyndromic Aplasia Cutis Congenita
Nonsyndromic aplasia cutis congenita is a condition in which babies are born with localized areas of missing skin (lesions). These areas resemble ulcers or open wounds, although they are sometimes already healed at birth. Lesions most commonly occur on the top of the head (skull vertex), although they can be found on the torso or limbs. In some cases, the bone and other tissues under the skin defect are also underdeveloped.
  • 696
  • 24 Dec 2020
Topic Review
NSD1 Gene
nuclear receptor binding SET domain protein 1
  • 696
  • 24 Dec 2020
Topic Review
SLC3A1 Gene
solute carrier family 3 member 1
  • 696
  • 24 Dec 2020
Topic Review
Left Ventricular Noncompaction
Left ventricular noncompaction is a heart (cardiac) muscle disorder that occurs when the lower left chamber of the heart (left ventricle), which helps the heart pump blood, does not develop correctly.
  • 695
  • 23 Dec 2020
Topic Review
Sandhoff Disease
Sandhoff disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord.
  • 695
  • 24 Dec 2020
Topic Review
SLC6A3 Gene
solute carrier family 6 member 3
  • 695
  • 24 Dec 2020
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