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Topic Review
GABA-Transaminase Deficiency
GABA-transaminase deficiency is a brain disease (encephalopathy) that begins in infancy.
  • 682
  • 23 Dec 2020
Topic Review
GM3 Synthase Deficiency
GM3 synthase deficiency is characterized by recurrent seizures (epilepsy) and problems with brain development.
  • 682
  • 23 Dec 2020
Topic Review
NHLRC1 Gene
NHL repeat containing E3 ubiquitin protein ligase 1
  • 682
  • 23 Dec 2020
Topic Review
Isolated Hyperchlorhidrosis
Isolated hyperchlorhidrosis is characterized by the excessive loss of salt (sodium chloride or NaCl) in sweat.
  • 682
  • 23 Dec 2020
Topic Review
Cerebral Cavernous Malformation
Cerebral cavernous malformations are collections of small blood vessels (capillaries) in the brain that are enlarged and irregular in structure. These capillaries have abnormally thin walls, and they lack other support tissues, such as elastic fibers, which normally make them stretchy. As a result, the blood vessels are prone to leakage, which can cause the health problems related to this condition. Cavernous malformations can occur anywhere in the body, but usually produce serious signs and symptoms only when they occur in the brain and spinal cord (which are described as cerebral).
  • 682
  • 24 Dec 2020
Topic Review
Gaucher Disease
Gaucher disease is an inherited disorder that affects many of the body's organs and tissues
  • 681
  • 23 Dec 2020
Topic Review
LARGE1 Gene
LARGE xylosyl- and glucuronyltransferase 1
  • 681
  • 23 Dec 2020
Topic Review
ARID1A Gene
AT-rich interaction domain 1A
  • 681
  • 24 Dec 2020
Topic Review
Mucolipidosis III Gamma
Mucolipidosis III gamma is a slowly progressive disorder that affects many parts of the body. Signs and symptoms of this condition typically appear around age 3.
  • 681
  • 23 Dec 2020
Topic Review
LGI1 Gene
Leucine rich glioma inactivated 1
  • 680
  • 23 Dec 2020
Topic Review
DNMT3A Gene
DNA Methyltransferase 3 Alpha: The DNMT3A gene provides instructions for making an enzyme called DNA methyltransferase 3 alpha. 
  • 680
  • 24 Dec 2020
Topic Review
SLC4A1-Associated Distal Renal Tubular Acidosis
SLC4A1-associated distal renal tubular acidosis is a kidney (renal) disorder that sometimes includes blood cell abnormalities.
  • 680
  • 24 Dec 2020
Topic Review
IFIH1 Gene
Interferon induced with helicase C domain 1
  • 680
  • 23 Dec 2020
Topic Review
ALG12-congenital Disorder of Glycosylation
ALG12-congenital disorder of glycosylation (ALG12-CDG, also known as congenital disorder of glycosylation type Ig) is an inherited disorder with varying signs and symptoms that can affect several body systems. Individuals with ALG12-CDG typically develop signs and symptoms of the condition during infancy. They may have problems feeding and difficulty growing and gaining weight at the expected rate (failure to thrive). In addition, affected individuals often have intellectual disability, delayed development, and weak muscle tone (hypotonia), and some develop seizures.
  • 680
  • 01 May 2021
Topic Review
WDR19 Gene
WD repeat domain 19.
  • 679
  • 24 Dec 2020
Topic Review
HSD10 Disease
HSD10 disease is a disorder that affects the nervous system, vision, and heart. It is typically more severe in males than in females.
  • 678
  • 23 Dec 2020
Topic Review
Müllerian Aplasia and Hyperandrogenism
Müllerian aplasia and hyperandrogenism is a condition that affects the reproductive system in females.
  • 678
  • 23 Dec 2020
Topic Review
VRK1 Gene
VRK serine/threonine kinase 1.
  • 678
  • 24 Dec 2020
Topic Review
DHCR24 Gene
24-Dehydrocholesterol Reductase
  • 678
  • 24 Dec 2020
Topic Review
SCARB2 Gene
scavenger receptor class B member 2
  • 678
  • 24 Dec 2020
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