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Topic Review
Early-onset Glaucoma
Glaucoma is a group of eye disorders in which the optic nerves connecting the eyes and the brain are progressively damaged. This damage can lead to reduction in side (peripheral) vision and eventual blindness. Other signs and symptoms may include bulging eyes, excessive tearing, and abnormal sensitivity to light (photophobia). The term "early-onset glaucoma" may be used when the disorder appears before the age of 40.
  • 800
  • 25 Dec 2020
Topic Review
Fragile X-associated Primary Ovarian Insufficiency
Fragile X-associated primary ovarian insufficiency (FXPOI) is a condition that affects women and is characterized by reduced function of the ovaries. The ovaries are the female reproductive organs in which egg cells are produced. As a form of primary ovarian insufficiency, FXPOI can cause irregular menstrual cycles, early menopause, an inability to have children (infertility), and elevated levels of a hormone known as follicle stimulating hormone (FSH). FSH is produced in both males and females and helps regulate the development of reproductive cells (eggs in females and sperm in males). In females, the level of FSH rises and falls, but overall it increases as a woman ages. In younger women, elevated levels may indicate early menopause and fertility problems.
  • 800
  • 25 Dec 2020
Topic Review
SHANK3 Gene
SH3 and multiple ankyrin repeat domains 3
  • 800
  • 24 Dec 2020
Topic Review
Medullary Cystic Kidney Disease Type1
Medullary cystic kidney disease type 1 (MCKD1) is an inherited condition that affects the kidneys.
  • 799
  • 23 Dec 2020
Topic Review
UROD Gene
Uroporphyrinogen decarboxylase.
  • 799
  • 23 Dec 2020
Topic Review
Laing Distal Myopathy
Laing distal myopathy is a condition that affects skeletal muscles, which are muscles that the body uses for movement.
  • 799
  • 23 Dec 2020
Topic Review
SURF1 Gene
SURF1, cytochrome c oxidase assembly factor: The SURF1 gene provides instructions for making a protein that is important in oxidative phosphorylation, the process by which the energy from food is converted into a form cells can use. 
  • 799
  • 24 Dec 2020
Topic Review
PHKG2 Gene
phosphorylase kinase catalytic subunit gamma 2
  • 799
  • 25 Dec 2020
Topic Review
Type A Insulin Resistance Syndrome
Type A insulin resistance syndrome is a rare disorder characterized by severe insulin resistance, a condition in which the body's tissues and organs do not respond properly to the hormone insulin.
  • 799
  • 23 Dec 2020
Topic Review
Mandibuloacral Dysplasia
Mandibuloacral dysplasia is a condition that causes a variety of abnormalities involving bone development, skin coloring (pigmentation), and fat distribution.
  • 798
  • 23 Dec 2020
Topic Review
JAG1 Gene
Jagged 1
  • 798
  • 23 Dec 2020
Topic Review
BLM Gene
BLM RecQ like helicase
  • 798
  • 24 Dec 2020
Topic Review
CFH Gene
complement factor H
  • 798
  • 24 Dec 2020
Topic Review
ACAN Gene
aggrecan
  • 798
  • 24 Dec 2020
Topic Review
SLC2A9 Gene
solute carrier family 2 member 9
  • 798
  • 24 Dec 2020
Topic Review
Nonbullous Congenital Ichthyosiform Erythroderma
Nonbullous congenital ichthyosiform erythroderma (NBCIE) is a condition that mainly affects the skin.
  • 798
  • 24 Dec 2020
Topic Review
Thrombotic Thrombocytopenic Purpura
Thrombotic thrombocytopenic purpura is a rare disorder that causes blood clots (thrombi) to form in small blood vessels throughout the body.
  • 797
  • 23 Dec 2020
Topic Review
Asphyxiating Thoracic Dystrophy
Asphyxiating thoracic dystrophy, also known as Jeune syndrome, is an inherited disorder of bone growth characterized by a narrow chest, short ribs, shortened bones in the arms and legs, short stature, and extra fingers and toes (polydactyly). Additional skeletal abnormalities can include unusually shaped collarbones (clavicles) and pelvic bones, and and cone-shaped ends of the long bones in the arms and legs. Many infants with this condition are born with an extremely narrow, bell-shaped chest that can restrict the growth and expansion of the lungs. Life-threatening problems with breathing result, and people with asphyxiating thoracic dystrophy may live only into infancy or early childhood. However, in people who survive beyond the first few years, the narrow chest and related breathing problems can improve with age.
  • 797
  • 24 Dec 2020
Topic Review
Trichothiodystrophy
Trichothiodystrophy, which is commonly called TTD, is a rare inherited condition that affects many parts of the body. The hallmark of this condition is brittle hair that is sparse and easily broken. Tests show that the hair is lacking sulfur, an element that normally gives hair its strength.
  • 796
  • 23 Dec 2020
Topic Review
Protein S Deficiency
Protein S deficiency is a disorder of blood clotting. People with this condition have an increased risk of developing abnormal blood clots.
  • 796
  • 24 Dec 2020
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