Your browser does not fully support modern features. Please upgrade for a smoother experience.
Subject:
All Disciplines Arts & Humanities Biology & Life Sciences Business & Economics Chemistry & Materials Science Computer Science & Mathematics Engineering Environmental & Earth Sciences Medicine & Pharmacology Physical Sciences Public Health & Healthcare Social Sciences
Sort by:
Most Viewed Latest Alphabetical (A-Z) Alphabetical (Z-A)
Filter:
All Topic Review Biography Peer Reviewed Entry Video Entry
Topic Review
TH Gene
Tyrosine hydroxylase (TH): The TH gene provides instructions for making the enzyme tyrosine hydroxylase, which is important for normal functioning of the nervous system. 
  • 1.1K
  • 25 Dec 2020
Topic Review
Sitosterolemia
Sitosterolemia is a condition in which fatty substances (lipids) from vegetable oils, nuts, and other plant-based foods accumulate in the blood and tissues.
  • 1.1K
  • 25 Dec 2020
Topic Review
TEK Gene
TEK receptor tyrosine kinase: The TEK gene (also called the TIE2 gene) provides instructions for making a protein called TEK receptor tyrosine kinase.
  • 1.1K
  • 24 Dec 2020
Topic Review
Epilepsy-aphasia Spectrum
The epilepsy-aphasia spectrum is a group of conditions that have overlapping signs and symptoms. A key feature of these conditions is impairment of language skills (aphasia).
  • 1.1K
  • 25 Dec 2020
Topic Review
5-alpha Reductase Deficiency
5-alpha reductase deficiency is a condition that affects male sexual development before birth and during puberty. People with this condition are genetically male, with one X and one Y chromosome in each cell, and they have male gonads (testes). Their bodies, however, do not produce enough of a hormone called dihydrotestosterone (DHT). DHT has a critical role in male sexual development, and a shortage of this hormone disrupts the formation of the external sex organs before birth.
  • 1.1K
  • 23 Dec 2020
Topic Review
Bare Lymphocyte Syndrome Type II
Bare lymphocyte syndrome type II (BLS II) is an inherited disorder of the immune system categorized as a form of combined immunodeficiency (CID). People with BLS II lack virtually all immune protection from bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. These infections are often caused by "opportunistic" organisms that ordinarily do not cause illness in people with a normal immune system.
  • 1.1K
  • 24 Dec 2020
Topic Review
X-linked Hyper IgM Syndrome
X-linked hyper IgM syndrome is a condition that affects the immune system and occurs almost exclusively in males.
  • 1.1K
  • 24 Dec 2020
Topic Review
CAKUT
Congenital anomalies of kidney and urinary tract (CAKUT) is a group of abnormalities affecting the kidneys or other structures of the urinary tract. The additional parts of the urinary tract that may be affected include the bladder, the tubes that carry urine from each kidney to the bladder (the ureters), and the tube that carries urine from the bladder out of the body (the urethra). CAKUT results from abnormal development of the urinary system and is present from birth (congenital), although the abnormality may not become apparent until later in life.
  • 1.1K
  • 04 Jan 2021
Topic Review
Chromosome 8
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 8, one copy inherited from each parent, form one of the pairs.
  • 1.1K
  • 24 Dec 2020
Topic Review
CHD7 Gene
chromodomain helicase DNA binding protein 7
  • 1.1K
  • 24 Dec 2020
Topic Review
Bosma Arhinia Microphthalmia Syndrome
Bosma arhinia microphthalmia syndrome (BAMS) is a rare condition characterized by abnormalities of the nose and eyes and problems with puberty.
  • 1.1K
  • 24 Dec 2020
Topic Review
CLPB Deficiency
CLPB deficiency is a rare disorder characterized by neurological problems and a shortage of infection-fighting white blood cells (neutropenia). Signs and symptoms of the condition develop by early childhood, and their severity varies widely among affected individuals.
  • 1.1K
  • 24 Dec 2020
Topic Review
Cutis Laxa
Cutis laxa is a disorder of connective tissue, which is the tissue that forms the body's supportive framework. Connective tissue provides structure and strength to the muscles, joints, organs, and skin.
  • 1.1K
  • 24 Dec 2020
Topic Review
Cytogenetic Variability in Festuca (Poaceae)
Polyploidy has played an important evolutionary role in the genus Festuca (Poaceae), and several ploidy levels (ranging from 2n = 2x = 14 to 2n = 12x = 84) have been detected to date. Our understanding of ploidy diversity has greatly improved over the last two decades owing to the usage of flow cytometry (FCM). This valuable method makes it possible to not only estimate the genome size in a large number of individuals and populations but also infer ploidy levels. FCM has been used successfully in Festuca and its use is very useful in detecting a possible overlooked cytogenetic diversity that is generally manifested in the morphological variability exhibited in some of its taxa.
  • 1.1K
  • 18 Feb 2022
Topic Review
Steatocystoma Multiplex
Steatocystoma multiplex is a skin disorder characterized by the development of multiple noncancerous (benign) cysts known as steatocystomas.
  • 1.1K
  • 23 Dec 2020
Topic Review
Hereditary Angioedema
Hereditary angioedema is a disorder characterized by recurrent episodes of severe swelling (angioedema). The most common areas of the body to develop swelling are the limbs, face, intestinal tract, and airway.
  • 1.1K
  • 23 Dec 2020
Topic Review
22q11.2 Deletion Syndrome
22q11.2 deletion syndrome (which is also known by several other names, listed below) is a disorder caused by the deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated q11.2.  
  • 1.1K
  • 23 Dec 2020
Topic Review
Burn-McKeown Syndrome
Burn-McKeown syndrome is a disorder that is present from birth (congenital) and involves abnormalities of the nasal passages, characteristic facial features, hearing loss, heart abnormalities, and short stature.
  • 1.1K
  • 24 Dec 2020
Topic Review
Mutations in GHR and IGF1R Genes
The birth size of a newborn child is influenced by a number of factors. The main ones are genetic factors of the fetus and the intrauterine environment. These factors interact with each other, and the effect of this interaction is seen as the birth weight, length, body composition, and organ size. From conception to delivery, the fetus is under the influence of the mother’s organism, which is the environment for the developing organism. The capacity of the uterus corresponds to the mother’s height and it is one of the main determinants of the fetus’s size. In addition, the birth size of the fetus can be influenced by the nutritional status of the mother, which provides nutrients to developing organisms.
  • 1.1K
  • 30 May 2022
Topic Review
Spastic Paraplegia Type 11
Spastic paraplegia type 11 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. The pure types involve the lower limbs. The complex types involve the lower limbs and can affect the upper limbs to a lesser degree. Complex spastic paraplegias also affect the structure or functioning of the brain and the peripheral nervous system, which consists of nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound. Spastic paraplegia type 11 is a complex hereditary spastic paraplegia.  
  • 1.1K
  • 23 Dec 2020
  • Page
  • of
  • 135
Featured Entry Collections
>>

Featured Reprints

>>
Encyclopedia of Digital Society, Industry 5.0 and Smart City
Encyclopedia of Engineering
Encyclopedia of Social Sciences
Encyclopedia of Medieval Royal Iconography
Academic Video Service
Feedback