Your browser does not fully support modern features. Please upgrade for a smoother experience.
Subject:
All Disciplines Arts & Humanities Biology & Life Sciences Business & Economics Chemistry & Materials Science Computer Science & Mathematics Engineering Environmental & Earth Sciences Medicine & Pharmacology Physical Sciences Public Health & Healthcare Social Sciences
Sort by:
Most Viewed Latest Alphabetical (A-Z) Alphabetical (Z-A)
Filter:
All Topic Review Biography Peer Reviewed Entry Video Entry
Topic Review
Otopalatodigital Syndrome Type 2
Otopalatodigital syndrome type 2 is a disorder primarily involving abnormalities in skeletal development.
  • 757
  • 24 Dec 2020
Topic Review
Renal Hypouricemia
Renal hypouricemia is a kidney (renal) disorder that results in a reduced amount of urate in the blood.
  • 757
  • 24 Dec 2020
Topic Review
CARD14 Gene
caspase recruitment domain family member 14
  • 757
  • 24 Dec 2020
Topic Review
Carnitine-Acylcarnitine Translocase Deficiency
Carnitine-acylcarnitine translocase (CACT) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). Signs and symptoms of this disorder usually begin soon after birth and may include breathing problems, seizures, and an irregular heartbeat (arrhythmia). Affected individuals typically have low blood sugar (hypoglycemia) and a low level of ketones, which are produced during the breakdown of fats and used for energy. Together these signs are called hypoketotic hypoglycemia. People with CACT deficiency also usually have excess ammonia in the blood (hyperammonemia), an enlarged liver (hepatomegaly), and a weakened heart muscle (cardiomyopathy).
  • 757
  • 19 Apr 2021
Topic Review
TMEM70 Gene
Transmembrane protein 70: The TMEM70 gene provides instructions for making a protein called transmembrane protein 70.
  • 757
  • 25 Dec 2020
Topic Review
LncRNAs in Traumatic Brain Injury
The biomedical studies of traumatic brain injury (TBI) can lead to insight for treatment clinically. However, TBIs are occurred by various risk factors and showing heterogeneity that make difficult to accurate diagnosis for initiation treatment of patients. Therefore, identification of biomarkers requires to prediction and therapeutics for TBI treatment. The canonical function of the long non-coding RNAs (lncRNAs) have been recently shown to promote transcription, post-transcription, and protein activity in many different conditions. 
  • 757
  • 30 Jan 2021
Topic Review
Mucopolysaccharidosis Type III
Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome, is a progressive disorder that primarily affects the brain and spinal cord (central nervous system). It is characterized by deterioration of neurological function (neurodegeneration), resulting in many of the features of the condition. Other body systems can also be involved, although the physical features are usually mild in the early stages.
  • 756
  • 23 Dec 2020
Topic Review
DYNC2H1 Gene
Dynein Cytoplasmic 2 Heavy Chain 1
  • 756
  • 24 Dec 2020
Topic Review
DYRK1A Gene
Dual Specificity Tyrosine Phosphorylation Regulated Kinase 1A
  • 756
  • 24 Dec 2020
Topic Review
SPECC1L Gene
sperm antigen with calponin homology and coiled-coil domains 1 like
  • 756
  • 24 Dec 2020
Topic Review
Microcephalic Osteodysplastic Primordial Dwarfism TypeII
Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a condition characterized by short stature (dwarfism) with other skeletal abnormalities (osteodysplasia) and an unusually small head size (microcephaly).
  • 755
  • 23 Dec 2020
Topic Review
Multiple Mitochondrial Dysfunctions Syndrome
Multiple mitochondrial dysfunctions syndrome is characterized by impairment of cellular structures called mitochondria, which are the energy-producing centers of cells. While certain mitochondrial disorders are caused by impairment of a single stage of energy production, individuals with multiple mitochondrial dysfunctions syndrome have reduced function of more than one stage. The signs and symptoms of this severe condition begin early in life, and affected individuals usually do not live past infancy.
  • 755
  • 01 May 2021
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.
  • 755
  • 24 Dec 2020
Topic Review
NPHS1 Gene
NPHS1, nephrin
  • 755
  • 24 Dec 2020
Topic Review
CARD9 Gene
caspase recruitment domain family member 9
  • 755
  • 24 Dec 2020
Topic Review
Pearson Marrow-Pancreas Syndrome
Pearson marrow-pancreas syndrome is a severe disorder that usually begins in infancy.
  • 755
  • 24 Dec 2020
Topic Review
DNA Methylation Episignatures in Neurodevelopmental Disorders
Large structural chromosomal deletions and duplications, referred to as copy number variants (CNVs), play a role in the pathogenesis of neurodevelopmental disorders (NDDs) through effects on gene dosage. 
  • 755
  • 08 Aug 2022
Topic Review
FKBP14 Gene
FKBP prolyl isomerase 14: The FKBP14 gene provides instructions for making a protein called FKBP prolyl isomerase 14 (also known as FKBP22). 
  • 755
  • 25 Dec 2020
Topic Review
MUC1 Gene
mucin 1, cell surface associated
  • 754
  • 23 Dec 2020
Topic Review
MECP2-Related Severe Neonatal Encephalopathy
MECP2-related severe neonatal encephalopathy is a neurological disorder that primarily affects males and causes brain dysfunction (encephalopathy).
  • 754
  • 24 Dec 2020
  • Page
  • of
  • 135
Featured Entry Collections
>>

Featured Reprints

>>
Encyclopedia of Digital Society, Industry 5.0 and Smart City
Encyclopedia of Engineering
Encyclopedia of Social Sciences
Encyclopedia of Medieval Royal Iconography
Academic Video Service
Feedback