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Topic Review
Riboflavin Transporter Deficiency Neuronopathy
Riboflavin transporter deficiency neuronopathy is a disorder that affects nerve cells (neurons). Affected individuals typically have hearing loss caused by nerve damage in the inner ear (sensorineural hearing loss) and signs of damage to other nerves.
  • 733
  • 24 Dec 2020
Topic Review
KAT6B Gene
Lysine acetyltransferase 6B
  • 732
  • 23 Dec 2020
Topic Review
Mucolipidosis Type IV
Mucolipidosis type IV is an inherited disorder characterized by delayed development and vision impairment that worsens over time. The severe form of the disorder is called typical mucolipidosis type IV, and the mild form is called atypical mucolipidosis type IV.
  • 732
  • 23 Dec 2020
Topic Review
DCTN1 Gene
Dynactin Subunit 1: The DCTN1 gene provides instructions for making a protein called dynactin-1. 
  • 732
  • 23 Dec 2020
Topic Review
RECQL4
RecQ like helicase 4
  • 732
  • 23 Dec 2020
Topic Review
Adenylosuccinate Lyase Deficiency
Adenylosuccinate lyase deficiency is a neurological disorder that causes brain dysfunction (encephalopathy) leading to delayed development of mental and movement abilities (psychomotor delay), autistic behaviors that affect communication and social interaction, and seizures. A characteristic feature that can help with diagnosis of this condition is the presence of chemicals called succinylaminoimidazole carboxamide riboside (SAICAr) and succinyladenosine (S-Ado) in body fluids.
  • 732
  • 24 Dec 2020
Topic Review
CLN8 Gene
CLN8, transmembrane ER and ERGIC protein
  • 732
  • 24 Dec 2020
Topic Review
EIF2B4 Gene
Eukaryotic translation initiation factor 2B subunit delta
  • 732
  • 25 Dec 2020
Topic Review
GLI3 Gene
GLI family zinc finger 3
  • 731
  • 23 Dec 2020
Topic Review
GRIN2A Gene
Glutamate ionotropic receptor NMDA type subunit 2A
  • 731
  • 22 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.
  • 731
  • 23 Dec 2020
Topic Review
ATP1A2 Gene
ATPase Na+/K+ transporting subunit alpha 2
  • 731
  • 24 Dec 2020
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.
  • 730
  • 22 Dec 2020
Topic Review
NF2 Gene
neurofibromin 2
  • 730
  • 23 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.
  • 730
  • 23 Dec 2020
Topic Review
ARX Gene
aristaless related homeobox
  • 730
  • 24 Dec 2020
Topic Review
Otopalatodigital Syndrome Type 2
Otopalatodigital syndrome type 2 is a disorder primarily involving abnormalities in skeletal development.
  • 730
  • 24 Dec 2020
Topic Review
CDKN1C Gene
cyclin dependent kinase inhibitor 1C
  • 730
  • 24 Dec 2020
Topic Review
SYNGAP1-Related Intellectual Disability
SYNGAP1-related intellectual disability is a neurological disorder characterized by moderate to severe intellectual disability that is evident in early childhood. 
  • 730
  • 24 Dec 2020
Topic Review
Familial Hypertrophic Cardiomyopathy
Familial hypertrophic cardiomyopathy is a heart condition characterized by thickening (hypertrophy) of the heart (cardiac) muscle. Thickening usually occurs in the interventricular septum, which is the muscular wall that separates the lower left chamber of the heart (the left ventricle) from the lower right chamber (the right ventricle).
  • 730
  • 25 Dec 2020
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