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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.
  • 702
  • 23 Dec 2020
Topic Review
Leydig Cell Hypoplasia
Leydig cell hypoplasia is a condition that affects male sexual development. It is characterized by underdevelopment (hypoplasia) of Leydig cells in the testes. Leydig cells secrete male sex hormones (androgens) that are important for normal male sexual development before birth and during puberty.
  • 702
  • 24 Dec 2020
Topic Review
EXT1 Gene
Exostosin glycosyltransferase 1
  • 702
  • 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. 
  • 702
  • 07 Feb 2022
Topic Review
Noonan Syndrome with Multiple Lentigines
Noonan syndrome with multiple lentigines (formerly called LEOPARD syndrome) is a condition that affects many areas of the body. As the condition name suggests, Noonan syndrome with multiple lentigines is very similar to a condition called Noonan syndrome, and it can be difficult to tell the two disorders apart in early childhood. However, the features of these two conditions differ later in life. The characteristic features of Noonan syndrome with multiple lentigines include brown skin spots called lentigines that are similar to freckles, heart defects, widely spaced eyes (ocular hypertelorism), a sunken chest (pectus excavatum) or protruding chest (pectus carinatum), and short stature. These features vary, however, even among affected individuals in the same family. Not all individuals with Noonan syndrome with multiple lentigines have all the characteristic features of this condition.
  • 701
  • 24 Dec 2020
Topic Review
Choroideremia
Choroideremia is a condition characterized by progressive vision loss that mainly affects males.
  • 701
  • 24 Dec 2020
Topic Review
Opitz G/BBB Syndrome
Opitz G/BBB syndrome is a genetic condition that causes several abnormalities along the midline of the body. "G/BBB" represents the first letters of the last names of the families first diagnosed with this disorder and "Opitz" is the last name of the doctor who first described the signs and symptoms. There are two forms of Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome and autosomal dominant Opitz G/BBB syndrome. The two forms are distinguished by their genetic causes and patterns of inheritance. The signs and symptoms of the two forms are generally the same.
  • 701
  • 24 Dec 2020
Topic Review
Carbamoyl Phosphate Synthetase I Deficiency
Carbamoyl phosphate synthetase I deficiency is an inherited disorder that causes ammonia to accumulate in the blood (hyperammonemia). Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The brain is especially sensitive to the effects of excess ammonia.
  • 701
  • 24 Dec 2020
Topic Review
ETHE1 Gene
ETHE1, persulfide dioxygenase
  • 701
  • 24 Dec 2020
Topic Review
Chilling Requirement Validation
The introduction of herbaceous peony (Paeonia lactiflora Pall.) in low-latitude areas is of great significance to expand the landscape application of this world-famous ornamental. With the hazards of climate warming, warm winters occurs frequently, which makes many excellent northern herbaceous peony cultivars unable to meet their chilling requirements (CR) and leads to their poor growth and flowering in southern China. Exploring the endodormancy release mechanism of underground buds is crucial for improving low-CR cultivar screening and breeding. 
  • 701
  • 31 Aug 2021
Topic Review
MESP2 Gene
mesoderm posterior bHLH transcription factor 2
  • 700
  • 22 Dec 2020
Topic Review
ZIC2 Gene
Zic family member 2
  • 700
  • 24 Dec 2020
Topic Review
SLC6A3 Gene
solute carrier family 6 member 3
  • 700
  • 24 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.  
  • 699
  • 23 Dec 2020
Topic Review
ITGB3 Gene
Integrin subunit beta 3
  • 699
  • 23 Dec 2020
Topic Review
Beta-Ketothiolase Deficiency
Beta-ketothiolase deficiency is an inherited disorder in which the body cannot effectively process a protein building block (amino acid) called isoleucine. This disorder also impairs the body's ability to process ketones, which are molecules produced during the breakdown of fats.
  • 699
  • 24 Dec 2020
Topic Review
Pelizaeus-Merzbacher-Like Disease Type 1
Pelizaeus-Merzbacher-like disease type 1 is an inherited condition involving the brain and spinal cord (central nervous system).
  • 699
  • 24 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.
  • 699
  • 24 Dec 2020
Topic Review
NSD1 Gene
nuclear receptor binding SET domain protein 1
  • 699
  • 24 Dec 2020
Topic Review
CRISPR/Cas9-Mediated Gene Editing System
The natural CRISPR-Cas9 system are composed of Cas9, crRNA, and tracrRNA. The artificial CRISPR/Cas9 system usually consists of two components: the Cas9 endonuclease and the sgRNA, which form the ribonucleoprotein complex via base pairing to mediate the gene editing. 
  • 699
  • 11 Jan 2024
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