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Topic Review
CACNA1S Gene
calcium voltage-gated channel subunit alpha1 S
  • 725
  • 24 Dec 2020
Topic Review
Carnitine Palmitoyltransferase I Deficiency
Carnitine palmitoyltransferase I (CPT I) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). The severity of this condition varies among affected individuals.
  • 725
  • 24 Dec 2020
Topic Review
NOP56 Gene
NOP56 ribonucleoprotein
  • 725
  • 24 Dec 2020
Topic Review
PSEN1 Gene
presenilin 1
  • 725
  • 23 Dec 2020
Topic Review
DSC2 Gene
Desmocollin 2: The DSC2 gene provides instructions for making a protein called desmocollin-2. 
  • 725
  • 24 Dec 2020
Topic Review
HSPG2 Gene
Heparan sulfate proteoglycan 2
  • 724
  • 23 Dec 2020
Topic Review
Niemann-Pick Disease
Niemann-Pick disease is a condition that affects many body systems. It has a wide range of symptoms that vary in severity. Niemann-Pick disease is divided into four main types: type A, type B, type C1, and type C2. These types are classified on the basis of genetic cause and the signs and symptoms of the condition.
  • 724
  • 24 Dec 2020
Topic Review
Nonsyndromic Hearing Loss
Nonsyndromic hearing loss is a partial or total loss of hearing that is not associated with other signs and symptoms. In contrast, syndromic hearing loss occurs with signs and symptoms affecting other parts of the body.
  • 724
  • 24 Dec 2020
Topic Review
COL6A3 Gene
collagen type VI alpha 3 chain
  • 724
  • 24 Dec 2020
Topic Review
Bladder Exstrophy Epispadias Complex
The bladder exstrophy–epispadias complex (BEEC) is an abdominal midline malformation comprising a spectrum of congenital genitourinary abnormalities of the abdominal wall, pelvis, urinary tract, genitalia, anus, and spine. The vast majority of BEEC cases are classified as non-syndromic and the etiology of this malformation is still unknown.
  • 724
  • 05 Aug 2021
Topic Review
CTSD Gene
Cathepsin D: The CTSD gene provides instructions for making an enzyme called cathepsin D.
  • 723
  • 23 Dec 2020
Topic Review
RAG1 Gene
recombination activating 1
  • 723
  • 23 Dec 2020
Topic Review
Atypical Hemolytic-Uremic Syndrome
Atypical hemolytic-uremic syndrome is a disease that primarily affects kidney function. This condition, which can occur at any age, causes abnormal blood clots (thrombi) to form in small blood vessels in the kidneys. These clots can cause serious medical problems if they restrict or block blood flow. Atypical hemolytic-uremic syndrome is characterized by three major features related to abnormal clotting: hemolytic anemia, thrombocytopenia, and kidney failure.
  • 723
  • 24 Dec 2020
Topic Review
Mitochondrial tRNASer(UCN) Gene
Mitochondrial tRNASer(UCN) is considered a hot-spot for non-syndromic and aminoglycoside-induced hearing loss. However, many patients have been described with more extensive neurological diseases, mainly including epilepsy, myoclonus, ataxia, and myopathy. 
  • 723
  • 24 Feb 2023
Topic Review
Abdominal Wall Defect
An abdominal wall defect is an opening in the abdomen through which various abdominal organs can protrude. This opening varies in size and can usually be diagnosed early in fetal development, typically between the tenth and fourteenth weeks of pregnancy. There are two main types of abdominal wall defects: omphalocele and gastroschisis. Omphalocele is an opening in the center of the abdominal wall where the umbilical cord meets the abdomen. Organs (typically the intestines, stomach, and liver) protrude through the opening into the umbilical cord and are covered by the same protective membrane that covers the umbilical cord. Gastroschisis is a defect in the abdominal wall, usually to the right of the umbilical cord, through which the large and small intestines protrude (although other organs may sometimes bulge out). There is no membrane covering the exposed organs in gastroschisis.
  • 722
  • 04 Feb 2021
Topic Review
SUCLG1 Gene
Succinate-CoA ligase alpha subunit: The SUCLG1 gene provides instructions for making one part, the alpha subunit, of an enzyme called succinate-CoA ligase.
  • 722
  • 24 Dec 2020
Topic Review
ANKRD11 Gene
ankyrin repeat domain 11
  • 722
  • 24 Dec 2020
Topic Review
SCNN1B Gene
sodium channel epithelial 1 beta subunit
  • 722
  • 24 Dec 2020
Topic Review
Behçet Disease
Behçet disease is an inflammatory condition that affects many parts of the body. The health problems associated with Behçet disease result from widespread inflammation of blood vessels (vasculitis). This inflammation most commonly affects small blood vessels in the mouth, genitals, skin, and eyes.
  • 722
  • 24 Dec 2020
Topic Review
Hereditary Diffuse Gastric Cancer
Hereditary diffuse gastric cancer (HDGC) is an inherited disorder that greatly increases the chance of developing a form of stomach(gastric) cancer.
  • 721
  • 23 Dec 2020
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