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Topic Review
Predicting Physical Appearance from DNA- Towards Genomic Solutions
The idea of forensic DNA intelligence is to extract from genomic data any information that can help guide the investigation. The advances in understanding the genetics of various human phenotypes, the progress in high-throughput genotyping technologies and machine-learning methods allow the prediction of physical appearance traits. In addition, the evolution of approaches to genetic prediction of physical traits from building predictive models based on variables showing genetic association to variables that improve prediction performance is presented.
  • 943
  • 29 Jan 2022
Topic Review
KRT14 Gene
Keratin 14
  • 942
  • 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. 
  • 942
  • 24 Dec 2020
Topic Review
Chromosome 6
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 6, one copy inherited from each parent, form one of the pairs.
  • 942
  • 24 Dec 2020
Topic Review
Restless Legs Syndrome
Restless legs syndrome is a neurological condition that causes an irresistible urge to move the legs. The movement is triggered by strange or uncomfortable feelings, often described as crawling, pulling, or itching, deep within both legs. The feelings usually occur while the affected person is sitting or lying down and are worse at night. Movement, such as kicking, stretching, rubbing, or pacing, make the discomfort go away, at least temporarily. The unpleasant feelings and the resulting need to move the legs often make it difficult for an affected person to fall asleep or stay asleep.
  • 942
  • 04 Jan 2021
Topic Review
Chronic Granulomatous Disease
Chronic granulomatous disease is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency.
  • 941
  • 24 Dec 2020
Topic Review
DHCR7 Gene
7-Dehydrocholesterol Reductase: The DHCR7 gene provides instructions for making an enzyme called 7-dehydrocholesterol reductase. 
  • 941
  • 24 Dec 2020
Topic Review
REN-related Kidney Disease
REN-related kidney disease is an inherited condition that affects kidney function.
  • 941
  • 24 Dec 2020
Topic Review
Maffucci Syndrome
Maffucci syndrome is a disorder that primarily affects the bones and skin. It is characterized by multiple enchondromas, which are noncancerous (benign) growths of cartilage that develop within the bones. These growths most commonly occur in the limb bones, especially in the bones of the hands and feet; however, they may also occur in the skull, ribs, and bones of the spine (vertebrae). Enchondromas may result in severe bone deformities, shortening of the limbs, and fractures.
  • 940
  • 23 Dec 2020
Topic Review
Capillary Malformation-Arteriovenous Malformation Syndrome
Capillary malformation-arteriovenous malformation syndrome (CM-AVM) is a disorder of the vascular system, which is the body's complex network of blood vessels. The vascular system consists of arteries, which carry oxygen-rich blood from the heart to the body's various organs and tissues; veins, which carry blood back to the heart; and capillaries, which are tiny blood vessels that connect arteries and veins.
  • 940
  • 24 Dec 2020
Topic Review
Lowe Syndrome
Lowe syndrome is a condition that primarily affects the eyes, brain, and kidneys. This disorder occurs almost exclusively in males.
  • 939
  • 24 Dec 2020
Topic Review
Costeff Syndrome
Costeff syndrome is an inherited condition characterized by vision loss, delayed development, and movement problems. Vision loss is primarily caused by degeneration (atrophy) of the optic nerves, which carry information from the eyes to the brain. This optic nerve atrophy often begins in infancy or early childhood and results in vision impairment that worsens over time. Some affected individuals have rapid and involuntary eye movements (nystagmus) or eyes that do not look in the same direction (strabismus).
  • 939
  • 24 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.
  • 939
  • 25 Dec 2020
Topic Review
MOCS1 Gene
molybdenum cofactor synthesis 1
  • 938
  • 22 Dec 2020
Topic Review
Lateral Meningocele Syndrome
Lateral meningocele syndrome is a disorder that affects the nervous system, the bones and muscles, and other body systems. The condition is characterized by abnormalities known as lateral meningoceles. Lateral meningoceles are protrusions of the membranes surrounding the spinal cord (known as the meninges) through gaps in the bones of the spine (vertebrae). The protrusions are most common and typically larger in the lower spine.
  • 938
  • 23 Dec 2020
Topic Review
XPC Gene
XPC complex subunit, DNA damage recognition and repair factor: the XPC gene provides instructions for making a protein that is involved in repairing damaged DNA. 
  • 938
  • 24 Dec 2020
Topic Review
FH Gene
Fumarate hydratase
  • 938
  • 25 Dec 2020
Topic Review
Corticosteroid-Binding Globulin Deficiency
Corticosteroid-binding globulin deficiency is a condition with subtle signs and symptoms, the most frequent being extreme tiredness (fatigue), especially after physical exertion.
  • 937
  • 24 Dec 2020
Topic Review
CHMP2B-Related Frontotemporal Dementia
CHMP2B-related frontotemporal dementia is a progressive brain disorder that affects personality, behavior, and language. The symptoms of this disorder usually become noticeable in a person's fifties or sixties, and affected people survive about 3 to 21 years after the appearance of symptoms.
  • 937
  • 24 Dec 2020
Topic Review
FANCC Gene
FA complementation group C
  • 937
  • 25 Dec 2020
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