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Topic Review
LAMA3 Gene
Laminin subunit alpha 3
  • 733
  • 23 Dec 2020
Topic Review
FKBP10 Gene
FKBP prolyl isomerase 10
  • 733
  • 25 Dec 2020
Topic Review
GALNT3 Gene
Polypeptide N-acetylgalactosaminyltransferase 3
  • 733
  • 25 Dec 2020
Topic Review
HLA-DQB1 Gene
Major histocompatibility complex, class II, DQ beta 1
  • 732
  • 22 Dec 2020
Topic Review
MAGT1 Gene
Magnesium transporter 1
  • 732
  • 23 Dec 2020
Topic Review
Alternating Hemiplegia of Childhood
Alternating hemiplegia of childhood is a neurological condition characterized by recurrent episodes of temporary paralysis, often affecting one side of the body (hemiplegia). During some episodes, the paralysis alternates from one side of the body to the other or affects both sides at the same time. These episodes begin in infancy or early childhood, usually before 18 months of age, and the paralysis lasts from minutes to days.
  • 732
  • 24 Dec 2020
Topic Review
SALL4 Gene
spalt like transcription factor 4
  • 732
  • 24 Dec 2020
Topic Review
Costello Syndrome
Costello syndrome is a disorder that affects many parts of the body. This condition is characterized by delayed development and intellectual disability, loose folds of skin (which are especially noticeable on the hands and feet), unusually flexible joints, and distinctive facial features including a large mouth with full lips. Heart problems are common, including an abnormal heartbeat (arrhythmia), structural heart defects, and a type of heart disease that enlarges and weakens the heart muscle (hypertrophic cardiomyopathy). Infants with Costello syndrome may be larger than average at birth, but most have difficulty feeding and grow more slowly than other children. People with this condition have relatively short stature and may have reduced growth hormone levels. Other signs and symptoms of Costello syndrome can include tight Achilles tendons (which connect the calf muscles to the heel), weak muscle tone (hypotonia), a structural abnormality of the brain called a Chiari I malformation, skeletal abnormalities, dental problems, and problems with vision.
  • 732
  • 24 Dec 2020
Topic Review
Hereditary Hypophosphatemic Rickets
Hereditary hypophosphatemic rickets is a disorder related to low levels of phosphate in the blood (hypophosphatemia). Phosphate is a mineral that is essential for the normal formation of bones and teeth.
  • 731
  • 23 Dec 2020
Topic Review
Trichorhinophalangeal Syndrome Type II
Trichorhinophalangeal syndrome type II (TRPS II) is a condition that causes bone and joint malformations; distinctive facial features; intellectual disability; and abnormalities of the skin, hair, teeth, sweat glands, and nails. The name of the condition describes some of the areas of the body that are commonly affected: hair (tricho-), nose (rhino-), and fingers and toes (phalangeal).  
  • 731
  • 23 Dec 2020
Topic Review
CYP21A2 Gene
Cytochrome P450 Family 21 Subfamily A Member 2
  • 731
  • 23 Dec 2020
Topic Review
ATP2C1 Gene
ATPase secretory pathway Ca2+ transporting 1
  • 731
  • 24 Dec 2020
Topic Review
Dementia with Lewy Bodies
Dementia with Lewy bodies is a nervous system disorder characterized by a decline in intellectual function (dementia), a group of movement problems known as parkinsonism, visual hallucinations, sudden changes (fluctuations) in behavior and intellectual ability, and acting out dreams while asleep (REM sleep behavior disorder). This condition typically affects older adults, most often developing between ages 50 and 85. The life expectancy of individuals with dementia with Lewy bodies varies; people typically survive about 5 to 7 years after they are diagnosed.
  • 731
  • 24 Dec 2020
Topic Review
EYA1 Gene
EYA transcriptional coactivator and phosphatase 1
  • 731
  • 24 Dec 2020
Topic Review
Cytogenetic Abnormalities of Extramedullary Multiple Myeloma
Extramedullary multiple myeloma (or extramedullary disease, EMD) is an aggressive form of multiple myeloma (MM) that occurs when malignant plasma cells become independent of the bone marrow microenvironment. This may occur alongside MM diagnosis or in later stages of relapse and confers an extremely poor prognosis. In the era of novel agents and anti-myeloma therapies, the incidence of EMD is increasing, making this a more prevalent and challenging cohort of patients. Therefore, understanding the underlying mechanisms of bone marrow escape and EMD driver events is increasingly urgent. 
  • 731
  • 11 Jul 2023
Topic Review
GLRA1 Gene
Glycine receptor alpha 1
  • 730
  • 23 Dec 2020
Topic Review
Cranioectodermal Dysplasia
Cranioectodermal dysplasia is a disorder that affects many parts of the body. The most common features involve bone abnormalities and abnormal development of certain tissues known as ectodermal tissues, which include the skin, hair, nails, and teeth. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.
  • 730
  • 24 Dec 2020
Topic Review
CRLF1 Gene
cytokine receptor like factor 1
  • 730
  • 24 Dec 2020
Topic Review
Dentatorubral-pallidoluysian Atrophy
Dentatorubral-pallidoluysian atrophy, commonly known as DRPLA, is a progressive brain disorder that causes involuntary movements, mental and emotional problems, and a decline in thinking ability. The average age of onset of DRPLA is 30 years, but this condition can appear anytime from infancy to mid-adulthood.
  • 730
  • 24 Dec 2020
Topic Review
Spastic Paraplegia Type 49
Spastic paraplegia type 49 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 only the lower limbs, whereas the complex types also involve the upper limbs (to a lesser degree) and other problems with the nervous system. Spastic paraplegia type 49 is a complex hereditary spastic paraplegia.  
  • 730
  • 23 Dec 2020
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