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Topic Review
CHRNA4 Gene
cholinergic receptor nicotinic alpha 4 subunit
  • 751
  • 24 Dec 2020
Topic Review
EVC2 Gene
EvC ciliary complex subunit 2
  • 751
  • 24 Dec 2020
Topic Review
Von Willebrand Disease
Von Willebrand disease is a bleeding disorder that slows the blood clotting process, causing prolonged bleeding after an injury.
  • 750
  • 23 Dec 2020
Topic Review
NPHP1 Gene
nephrocystin 1
  • 750
  • 24 Dec 2020
Topic Review
CLN8 Gene
CLN8, transmembrane ER and ERGIC protein
  • 750
  • 24 Dec 2020
Topic Review
Early Prenatal Alcohol Exposure
Prenatal alcohol exposure (PAE) is the underlying cause for a variety of birth defects referred to as Fetal Alcohol Spectrum Disorders (FASD).
  • 750
  • 03 Aug 2021
Topic Review
STAC3 Gene
SH3 and cysteine rich domain 3: The STAC3 gene provides instructions for making a protein whose function is not completely understood.
  • 749
  • 22 Dec 2020
Topic Review
DARS2 Gene
Aspartyl-tRNA Synthetase 2, Mitochondrial: The DARS2 gene provides instructions for making an enzyme called mitochondrial aspartyl-tRNA synthetase. 
  • 749
  • 23 Dec 2020
Topic Review
Andersen-Tawil Syndrome
Andersen-Tawil syndrome is a disorder that causes episodes of muscle weakness (periodic paralysis), changes in heart rhythm (arrhythmia), and developmental abnormalities. Periodic paralysis begins early in life, and episodes last from hours to days. These episodes may occur after exercise or long periods of rest, but they often have no obvious trigger. Muscle strength usually returns to normal between episodes. However, mild muscle weakness may eventually become permanent.
  • 749
  • 24 Dec 2020
Topic Review
Retroperitoneal Fibrosis
Retroperitoneal fibrosis is a disorder in which inflammation and extensive scar tissue (fibrosis) occur in the back of the abdominal cavity, behind (retro-) the membrane that surrounds the organs of the digestive system (the peritoneum).
  • 749
  • 24 Dec 2020
Topic Review
COQ2 Gene
coenzyme Q2, polyprenyltransferase
  • 749
  • 24 Dec 2020
Topic Review
PRRT2 Gene
proline rich transmembrane protein 2
  • 748
  • 22 Dec 2020
Topic Review
Hyperferritinemia-Cataract Syndrome
Hyperferritinemia-cataract syndrome is a disorder characterized by an excess of an iron storage protein called ferritin in the blood (hyperferritinemia) and tissues of the body.
  • 748
  • 23 Dec 2020
Topic Review
PGT-A for Elderly maternal
Preimplantation genetic testing for aneuploidies (PGT-A) is widely used in women of advanced maternal age (AMA). However, the effectiveness remains controversial.
  • 748
  • 18 Sep 2021
Topic Review
MITF Gene
melanocyte inducing transcription factor
  • 747
  • 22 Dec 2020
Topic Review
Mitochondrial Complex III Deficiency
Mitochondrial complex III deficiency is a genetic condition that can affect several parts of the body, including the brain, kidneys, liver, heart, and the muscles used for movement (skeletal muscles). Signs and symptoms of mitochondrial complex III deficiency usually begin in infancy but can appear later.
  • 747
  • 23 Dec 2020
Topic Review
Infantile-Onset Spinocerebellar Ataxia
Infantile-onset spinocerebellar ataxia (IOSCA) is a progressive disorder that affects the nervous system.
  • 747
  • 23 Dec 2020
Topic Review
ALG6-congenital Disorder of Glycosylation
ALG6-congenital disorder of glycosylation (ALG6-CDG, also known as congenital disorder of glycosylation type Ic) is an inherited condition that affects many parts of the body. The signs and symptoms of ALG6-CDG vary widely among people with the condition.
  • 747
  • 23 Dec 2020
Topic Review
Clouston Syndrome
Clouston syndrome is a form of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of some or all of the ectodermal structures, which include the skin, hair, nails, teeth, and sweat glands. Specifically, Clouston syndrome is characterized by abnormalities of the hair, nails, and skin, with the teeth and sweat glands being unaffected.
  • 747
  • 24 Dec 2020
Topic Review
CLN3 Disease
CLN3 disease is an inherited disorder that primarily affects the nervous system. After 4 to 6 years of normal development, children with this condition develop vision impairment, intellectual disability, movement problems, speech difficulties, and seizures, which worsen over time.
  • 747
  • 24 Dec 2020
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