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Topic Review
Acromicric Dysplasia
Acromicric dysplasia is a condition characterized by severely short stature, short limbs, stiff joints, and distinctive facial features.
  • 821
  • 23 Dec 2020
Topic Review
Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth disease encompasses a group of disorders called hereditary sensory and motor neuropathies that damage the peripheral nerves.
  • 821
  • 24 Dec 2020
Topic Review
Chromosome 13
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 13, one copy inherited from each parent, form one of the pairs.
  • 821
  • 24 Dec 2020
Topic Review
TCOF1 Gene
Treacle ribosome biogenesis factor 1: The TCOF1 gene provides instructions for making a protein called treacle.
  • 821
  • 24 Dec 2020
Topic Review
Own stem Rust Resistance Genes in Bread Wheat
Stem rust is one wheat’s most dangerous fungal diseases. Yield losses caused by stem rust have been significant enough to cause famine in the past. Resistance genes are considered to be the most rational environment-friendly and widely used way to control the spread of stem rust and prevent yield losses. More than 60 genes conferring resistance against stem rust have been discovered (so-called Sr genes).
  • 821
  • 01 Nov 2022
Topic Review
Proximal 18q Deletion Syndrome
Proximal 18q deletion syndrome is a chromosomal condition that occurs when a piece of the long (q) arm of chromosome 18 is missing. The term "proximal" means that the missing piece occurs near the center of the chromosome. Individuals with proximal 18q deletion syndrome have a wide variety of signs and symptoms. Because only a small number of people are known to have this type of deletion, it can be difficult to determine which features should be considered characteristic of the disorder.
  • 820
  • 24 Dec 2020
Topic Review
Asparagine Synthetase Deficiency
Asparagine synthetase deficiency is a condition that causes neurological problems in affected individuals starting soon after birth. Most people with this condition have an unusually small head size (microcephaly) that worsens over time due to loss (atrophy) of brain tissue. They also have severe developmental delay that affects both mental and motor skills (psychomotor delay). Affected individuals cannot sit, crawl, or walk and are unable to communicate verbally or nonverbally. The few affected children who achieve developmental milestones often lose these skills over time (developmental regression).
  • 820
  • 24 Dec 2020
Topic Review
CALR Gene
calreticulin
  • 820
  • 24 Dec 2020
Topic Review
Dowling-Degos Disease
Dowling-Degos disease is a skin condition characterized by a lacy or net-like (reticulate) pattern of abnormally dark skin coloring (hyperpigmentation), particularly in the body's folds and creases. These skin changes typically first appear in the armpits and groin area and can later spread to other skin folds such as the crook of the elbow, back of the knee, and under the breasts. Less commonly, pigmentation changes can also occur on the neck, wrists, back of the hands, face, scalp, scrotum, and vulva. These areas of hyperpigmentation typically cause no health problems.
  • 820
  • 24 Dec 2020
Topic Review
Familial Hypobetalipoproteinemia
Familial hypobetalipoproteinemia (FHBL) is a disorder that impairs the body's ability to absorb and transport fats. This condition is characterized by low levels of a fat-like substance called cholesterol in the blood.
  • 820
  • 25 Dec 2020
Topic Review
TREX1 Gene
Three prime repair exonuclease 1: The TREX1 gene provides instructions for making the 3-prime repair exonuclease 1 enzyme.
  • 820
  • 25 Dec 2020
Topic Review
Ichthyosis with Confetti
Ichthyosis with confetti is a disorder of the skin. Individuals with this condition are born with red, scaly skin all over the body, which can be itchy in some people.
  • 820
  • 23 Dec 2020
Topic Review
AMN Gene
amnion associated transmembrane protein
  • 819
  • 24 Dec 2020
Topic Review
RAB18 Deficiency
RAB18 deficiency causes two conditions with similar signs and symptoms that primarily affect the eyes, brain, and reproductive system. These two conditions, called Warburg micro syndrome and Martsolf syndrome, were once thought to be distinct disorders but are now considered to be part of the same disease spectrum because of their similar features and shared genetic cause.
  • 819
  • 24 Dec 2020
Topic Review
Crigler-Najjar Syndrome
Crigler-Najjar syndrome is a severe condition characterized by high levels of a toxic substance called bilirubin in the blood (hyperbilirubinemia). Bilirubin is produced when red blood cells are broken down. This substance is removed from the body only after it undergoes a chemical reaction in the liver, which converts the toxic form of bilirubin (called unconjugated bilirubin) to a nontoxic form called conjugated bilirubin. People with Crigler-Najjar syndrome have a buildup of unconjugated bilirubin in their blood (unconjugated hyperbilirubinemia).
  • 819
  • 24 Dec 2020
Topic Review
Pulmonary Veno-occlusive Disease
Pulmonary veno-occlusive disease (PVOD) is characterized by the blockage (occlusion) of the blood vessels that carry oxygen-rich (oxygenated) blood from the lungs to the heart (the pulmonary veins).
  • 819
  • 24 Dec 2020
Topic Review
PITX1 Gene
paired like homeodomain 1
  • 819
  • 25 Dec 2020
Topic Review
PHF8 Gene
PHD finger protein 8
  • 818
  • 25 Dec 2020
Topic Review
Detection of microRNAs
MicroRNAs (miRNA) include a set of short, noncoding proteins and small RNA molecules with a length of 20–24 nt, generated by the RNase-III-type enzyme Dicer from an endogenous transcript that contains a local hairpin structure. After unwinding, the miRNA forms part of the RNA-induced silencing complex (RISC) assembly and causes translational repression or mRNA degradation.
  • 818
  • 26 Jul 2021
Topic Review
SPR Gene
sepiapterin reductase
  • 818
  • 24 Dec 2020
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