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Topic Review
NLRP3 Gene
NLR family pyrin domain containing 3
  • 834
  • 23 Dec 2020
Topic Review
CALR Gene
calreticulin
  • 834
  • 24 Dec 2020
Topic Review
ABCA1 Gene
ATP binding cassette subfamily A member 1
  • 834
  • 24 Dec 2020
Topic Review
SMAD4 Gene
SMAD family member 4
  • 834
  • 24 Dec 2020
Topic Review
SMARCA2 Gene
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
  • 834
  • 24 Dec 2020
Topic Review
Hennekam Syndrome
Hennekam syndrome is an inherited disorder resulting from malformation of the lymphatic system, which is part of both the circulatory system and immune system. The lymphatic system consists of a network of vessels that transport lymph fluid and immune cells throughout the body.
  • 834
  • 04 Apr 2021
Topic Review
KCNK9 Imprinting Syndrome
KCNK9 imprinting syndrome is a rare condition characterized by weak muscle tone (hypotonia) from birth.
  • 833
  • 23 Dec 2020
Topic Review
Netherton Syndrome
Netherton syndrome is a disorder that affects the skin, hair, and immune system. Newborns with Netherton syndrome have skin that is red and scaly (ichthyosiform erythroderma), and the skin may leak fluid. Some affected infants are born with a tight, clear sheath covering their skin called a collodion membrane.
  • 833
  • 23 Dec 2020
Topic Review
Parathyroid Cancer
Parathyroid cancer is a rare cancer that usually affects people in their forties or fifties and occurs in one of the four parathyroid glands. The parathyroid glands are located in the neck and secrete parathyroid hormone, which enhances the release of calcium into the blood.
  • 833
  • 24 Dec 2020
Topic Review
Foetal Programming
Foetal programming is a theory that suggests that the environment of the foetus during development affects their disease risk later in life. The three main routes of this programming are through maternal environment causing: These maternal environmental changes can be through nutritional changes, hormonal changes or exposure to toxins.
  • 833
  • 24 Nov 2022
Topic Review
Adolescent Idiopathic Scoliosis
Adolescent idiopathic scoliosis is an abnormal curvature of the spine that appears in late childhood or adolescence. Instead of growing straight, the spine develops a side-to-side curvature, usually in an elongated "S" or "C" shape; the bones of the spine are also slightly twisted or rotated.
  • 833
  • 24 Dec 2020
Topic Review
Pulmonary Alveolar Microlithiasis
Pulmonary alveolar microlithiasis is a disorder in which many tiny fragments (microliths) of a compound called calcium phosphate gradually accumulate in the small air sacs (alveoli) located throughout the lungs.
  • 833
  • 24 Dec 2020
Topic Review
Vohwinkel Syndrome
Vohwinkel syndrome is a disorder with classic and variant forms, both of which affect the skin.  
  • 832
  • 23 Dec 2020
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.
  • 832
  • 24 Dec 2020
Topic Review
Ewing Sarcoma
Ewing sarcoma is a cancerous tumor that occurs in bones or soft tissues, such as cartilage or nerves. There are several types of Ewing sarcoma, including Ewing sarcoma of bone, extraosseous Ewing sarcoma, peripheral primitive neuroectodermal tumor (pPNET), and Askin tumor. These tumors are considered to be related because they have similar genetic causes. These types of Ewing sarcoma can be distinguished from one another by the tissue in which the tumor develops. Approximately 87 percent of Ewing sarcomas are Ewing sarcoma of bone, which is a bone tumor that usually occurs in the thigh bones (femurs), pelvis, ribs, or shoulder blades. Extraosseous (or extraskeletal) Ewing sarcoma describes tumors in the soft tissues around bones, such as cartilage. pPNETs occur in nerve tissue and can be found in many parts of the body. A type of pPNET found in the chest is called Askin tumor.
  • 832
  • 25 Dec 2020
Topic Review
GCH1 Gene
GTP cyclohydrolase 1: The GCH1 gene provides instructions for making an enzyme called GTP cyclohydrolase 1. 
  • 832
  • 25 Dec 2020
Topic Review
Acromicric Dysplasia
Acromicric dysplasia is a condition characterized by severely short stature, short limbs, stiff joints, and distinctive facial features.
  • 831
  • 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.
  • 831
  • 24 Dec 2020
Topic Review
PGM3-Congenital Disorder of Glycosylation
PGM3-congenital disorder of glycosylation (PGM3-CDG) is an inherited condition that primarily affects the immune system but can also involve other areas of the body. The pattern and severity of this disorder's signs and symptoms typically vary.
  • 831
  • 24 Dec 2020
Topic Review
Associated Diseases of SLC4 Proteins in Human Tissues
The solute carrier family 4 (SLC4) is an important protein responsible for the transport of various ions across the cell membrane and mediating diverse physiological functions, such as the ion transporting function, protein-to-protein interactions, and molecular transduction. The deficiencies in SLC4 molecules may cause multisystem disease involving, particularly, the respiratory system, digestive, urinary, endocrine, hematopoietic, and central nervous systems. 
  • 831
  • 30 Oct 2023
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