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Topic Review
SETBP1 Disorder
SETBP1 disorder is a condition that involves speech and language problems, intellectual disability, and distinctive facial features.
  • 782
  • 24 Dec 2020
Topic Review
SLC25A24 Gene
solute carrier family 25 member 24
  • 782
  • 24 Dec 2020
Topic Review
Multicentric Osteolysis, Nodulosis, and Arthropathy
Multicentric osteolysis, nodulosis, and arthropathy (MONA) describes a rare inherited disease characterized by a loss of bone tissue (osteolysis), particularly in the hands and feet. MONA includes a condition formerly called nodulosis-arthropathy-osteolysis (NAO) syndrome. It may also include a similar disorder called Torg syndrome, although it is unknown whether Torg syndrome is actually part of MONA or a separate disorder caused by a mutation in a different gene.
  • 781
  • 23 Dec 2020
Topic Review
SAA1 Gene
serum amyloid A1
  • 781
  • 24 Dec 2020
Topic Review
CNGB3 Gene
cyclic nucleotide gated channel beta 3
  • 781
  • 19 Apr 2021
Topic Review
NR0B1 Gene
nuclear receptor subfamily 0 group B member 1
  • 781
  • 24 Dec 2020
Topic Review
GRACILE Syndrome
GRACILE syndrome is a severe disorder that begins before birth. GRACILE stands for the condition's characteristic features: growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death.
  • 780
  • 23 Dec 2020
Topic Review
Juvenile Paget Disease
Juvenile Paget disease is a disorder that affects bone growth. This disease causes bones to be abnormally large, misshapen, and easily broken (fractured).
  • 780
  • 23 Dec 2020
Topic Review
Joubert Syndrome
Joubert syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.
  • 780
  • 23 Dec 2020
Topic Review
BCS1L Gene
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
  • 780
  • 24 Dec 2020
Topic Review
Congenital Plasminogen Deficiency
Congenital plasminogen deficiency is a disorder that results in inflamed growths on the mucous membranes, which are the moist tissues that line body openings such as the eyelids and the inside of the mouth. Development of the growths are usually triggered by infections or injury, but they may also occur spontaneously in the absence of known triggers. The growths may recur after being removed.
  • 780
  • 24 Dec 2020
Topic Review
TNNI2 Gene
Troponin I2, fast skeletal type: The TNNI2 gene provides instructions for making one form of a protein called troponin I.
  • 780
  • 25 Dec 2020
Topic Review
SRD5A2 Gene
Steroid 5 alpha-reductase 2: The SRD5A2 gene provides instructions for making an enzyme called steroid 5-alpha reductase 2. 
  • 779
  • 22 Dec 2020
Topic Review
AMT Gene
aminomethyltransferase
  • 779
  • 24 Dec 2020
Topic Review
Argininosuccinic Aciduria
Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia.
  • 779
  • 24 Dec 2020
Topic Review
Hearing Loss Caused by KCNQ1 and KCNQ4 Variants
Deafness-associated genes KCNQ1 (also associated with heart diseases) and KCNQ4 (only associated with hearing loss) encode the homotetrameric voltage-gated potassium ion channels Kv7.1 and Kv7.4, respectively. To date, over 700 KCNQ1 and over 70 KCNQ4 variants have been identified in patients. The vast majority of these variants are inherited dominantly, and their pathogenicity is often explained by dominant-negative inhibition or haploinsufficiency.
  • 779
  • 12 Oct 2022
Topic Review
ASPM Gene
abnormal spindle microtubule assembly
  • 778
  • 24 Dec 2020
Topic Review
COL2A1 Gene
collagen type II alpha 1 chain
  • 778
  • 24 Dec 2020
Topic Review
ORC4 Gene
origin recognition complex subunit 4
  • 778
  • 24 Dec 2020
Topic Review
TTPA Gene
Alpha tocopherol transfer protein.
  • 778
  • 23 Dec 2020
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