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Topic Review
CLN4 Disease
CLN4 disease is a condition that primarily affects the nervous system, causing problems with movement and intellectual function that worsen over time. The signs and symptoms of CLN4 disease typically appear around age 30, but they can develop anytime between adolescence and late adulthood.
  • 840
  • 24 Dec 2020
Topic Review
Glycogen Storage Disease Type IV
Glycogen storage disease type IV (GSD IV) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles. There are five types of GSD IV, which are distinguished by their severity, signs, and symptoms.
  • 839
  • 23 Dec 2020
Topic Review
ALAS2 Gene
5'-aminolevulinate synthase 2
  • 839
  • 24 Dec 2020
Topic Review
2-hydroxyglutaric aciduria
2-hydroxyglutaric aciduria is a condition that causes progressive damage to the brain. The major types of this disorder are called D-2-hydroxyglutaric aciduria (D-2-HGA), L-2-hydroxyglutaric aciduria (L-2-HGA), and combined D,L-2-hydroxyglutaric aciduria (D,L-2-HGA).
  • 839
  • 23 Dec 2020
Topic Review
Moyamoya Disease
Moyamoya disease is a disorder of blood vessels in the brain, specifically the internal carotid arteries and the arteries that branch from them.
  • 838
  • 23 Dec 2020
Topic Review
Nager Syndrome
Nager syndrome is a rare condition that mainly affects the development of the face, hands, and arms. The severity of this disorder varies among affected individuals.
  • 838
  • 23 Dec 2020
Topic Review
Darier Disease
Darier disease is a skin condition characterized by wart-like blemishes on the body. The blemishes are usually yellowish in color, hard to the touch, mildly greasy, and can emit a strong odor. The most common sites for blemishes are the scalp, forehead, upper arms, chest, back, knees, elbows, and behind the ear. The mucous membranes can also be affected, with blemishes on the roof of the mouth (palate), tongue, inside of the cheek, gums, and throat. Other features of Darier disease include nail abnormalities, such as red and white streaks in the nails with an irregular texture, and small pits in the palms of the hands and soles of the feet.
  • 838
  • 24 Dec 2020
Topic Review
FOXP2-related Speech and Language Sisorder
FOXP2-related speech and language disorder is a condition that affects the development of speech and language starting in early childhood. Affected individuals have a speech problem known as apraxia, which makes it difficult to produce sequences of sounds, syllables, and words.
  • 838
  • 25 Dec 2020
Topic Review
Familial Glucocorticoid Deficiency
Familial glucocorticoid deficiency is a condition that occurs when the adrenal glands, which are hormone-producing glands located on top of each kidney, do not produce certain hormones called glucocorticoids. These hormones, which include cortisol and corticosterone, aid in immune system function, play a role in maintaining normal blood sugar levels, help trigger nerve cell signaling in the brain, and serve many other purposes in the body.
  • 838
  • 25 Dec 2020
Topic Review
Rhizomelic Chondrodysplasia Punctata
Rhizomelic chondrodysplasia punctata is a condition that impairs the normal development of many parts of the body.
  • 837
  • 24 Dec 2020
Topic Review
DUOX2 Gene
Dual Oxidase 2: The DUOX2 gene provides instructions for making an enzyme called dual oxidase 2. 
  • 837
  • 24 Dec 2020
Topic Review
SERPINA6 Gene
serpin family A member 6
  • 837
  • 24 Dec 2020
Topic Review
SF3B4 Gene
splicing factor 3b subunit 4
  • 837
  • 24 Dec 2020
Topic Review
Protein C Deficiency
Protein C deficiency is a disorder that increases the risk of developing abnormal blood clots; the condition can be mild or severe.
  • 837
  • 24 Dec 2020
Topic Review
Bone-Related RTT
Rett syndrome (RTT) is a monogenic neurodevelopmental disorder primarily caused by mutations in X-linked MECP2 gene, encoding for methyl-CpG binding protein 2 (MeCP2), a multifaceted modulator of gene expression and chromatin organization. 
  • 837
  • 02 Jul 2021
Topic Review
Hajdu-Cheney Syndrome
Hajdu-Cheney syndrome is a rare disorder that can affect many parts of the body, particularly the bones.
  • 836
  • 23 Dec 2020
Topic Review
Pseudohypoaldosteronism Type 1
Pseudohypoaldosteronism type 1 (PHA1) is a condition characterized by problems regulating the amount of sodium in the body.
  • 836
  • 24 Dec 2020
Topic Review
Aniridia
Aniridia is an eye disorder characterized by a complete or partial absence of the colored part of the eye (the iris). These iris abnormalities may cause the pupils to be abnormal or misshapen. Aniridia can cause reduction in the sharpness of vision (visual acuity) and increased sensitivity to light (photophobia).
  • 836
  • 24 Dec 2020
Topic Review
Chromosome 13
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 13, one copy inherited from each parent, form one of the pairs.
  • 835
  • 24 Dec 2020
Topic Review
ESCO2 Gene
Establishment of sister chromatid cohesion N-acetyltransferase 2
  • 835
  • 24 Dec 2020
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