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Topic Review
1q21.1 microduplication
1q21.1 microduplication is a chromosomal change in which a small amount of genetic material on chromosome 1 is abnormally copied (duplicated). The duplication occurs on the long (q) arm of the chromosome at a location designated q21.1.
  • 923
  • 23 Dec 2020
Topic Review
Hypokalemic Periodic Paralysis
Hypokalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness typically beginning in childhood or adolescence.
  • 923
  • 23 Dec 2020
Topic Review
Abetalipoproteinemia
Abetalipoproteinemia is an inherited disorder that impairs the normal absorption of fats and certain vitamins from the diet. Many of the signs and symptoms of abetalipoproteinemia result from a severe shortage (deficiency) of fat-soluble vitamins (vitamins A, E, and K). The signs and symptoms of this condition primarily affect the gastrointestinal system, eyes, nervous system, and blood.
  • 923
  • 23 Dec 2020
Topic Review
Blau Syndrome
Blau syndrome is an inflammatory disorder that primarily affects the skin, joints, and eyes. Signs and symptoms begin in childhood, usually before age 4.
  • 923
  • 24 Dec 2020
Topic Review
FLT3
Fms related tyrosine kinase 3
  • 923
  • 25 Dec 2020
Topic Review
MT-ND4 Gene
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4
  • 922
  • 23 Dec 2020
Topic Review
RAF1 Gene
Raf-1 proto-oncogene, serine/threonine kinase
  • 922
  • 23 Dec 2020
Topic Review
TBX5 Gene
T-box 5: The TBX5 gene provides instructions for making a protein called T-box 5 that plays an important role in the formation of tissues and organs during embryonic development. 
  • 922
  • 24 Dec 2020
Topic Review
Chronic Granulomatous Disease
Chronic granulomatous disease is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency.
  • 922
  • 24 Dec 2020
Topic Review
FAS Gene
Fas cell surface death receptor
  • 922
  • 25 Dec 2020
Topic Review
Enlarged Parietal Foramina
Enlarged parietal foramina is an inherited condition of impaired skull development. It is characterized by enlarged openings (foramina) in the parietal bones, which are the two bones that form the top and sides of the skull.
  • 922
  • 25 Dec 2020
Topic Review
Sialic Acid Storage Disease
Sialic acid storage disease is an inherited disorder that primarily affects the nervous system.
  • 922
  • 25 Dec 2020
Topic Review
Giant Congenital Melanocytic Nevus
Giant congenital melanocytic nevus is a skin condition characterized by an abnormally dark, noncancerous skin patch (nevus) that is composed of pigment-producing cells called melanocytes. It is present from birth (congenital) or is noticeable soon after birth.
  • 921
  • 23 Dec 2020
Topic Review
KRT14 Gene
Keratin 14
  • 921
  • 23 Dec 2020
Topic Review
Amelogenesis Imperfecta
Amelogenesis imperfecta is a disorder of tooth development. This condition causes teeth to be unusually small, discolored, pitted or grooved, and prone to rapid wear and breakage. Other dental abnormalities are also possible. These defects, which vary among affected individuals, can affect both primary (baby) teeth and permanent (adult) teeth.
  • 921
  • 24 Dec 2020
Topic Review
REN-related Kidney Disease
REN-related kidney disease is an inherited condition that affects kidney function.
  • 921
  • 24 Dec 2020
Topic Review
X-linked Lissencephaly with Abnormal Genitalia
X-linked lissencephaly with abnormal genitalia (XLAG) is a condition that affects the development of the brain and genitalia. It occurs most often in males.  
  • 921
  • 24 Dec 2020
Topic Review
FOXG1 Gene
Forkhead box G1
  • 921
  • 25 Dec 2020
Topic Review
PMP22 Gene
peripheral myelin protein 22
  • 921
  • 25 Dec 2020
Topic Review
Difficulties in Kinship Analysis in Armed Conflicts
Regarding human identification in armed conflicts, various complications can be observed. Usually, such difficulties can be social-related, which can include the lack of access to the relative’s genetic material, or the unwillingness of administrative and judicial authorities to participate in the process of identification. In the case of genetics, the analysis allows identifying the individual from a blood sample, a part of an organ, or from skeletal remains, which is why it is considered a much more extensive and effective method when compared with fingerprint techniques or odontology. However, several factors can prevent this identification, such as considerably degraded genetic material. For successful identification, it is mandatory to have access to antemortem biological samples unequivocally attributed to the individual in question, using recombinant nuclear markers, as well as using biological samples from close relatives, whether parents or sons. Nevertheless, the problems associated with armed conflicts make this type of study very difficult.
  • 921
  • 05 Jun 2023
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