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Topic Review
TERC Gene
Telomerase RNA component: The TERC gene provides instructions for making one component of an enzyme called telomerase. 
  • 945
  • 24 Dec 2020
Topic Review
Peters Plus Syndrome
Peters plus syndrome is an inherited condition that is characterized by eye abnormalities, short stature, an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate), distinctive facial features, and intellectual disability.
  • 945
  • 24 Dec 2020
Topic Review
AGTR1 Gene
angiotensin II receptor type 1
  • 945
  • 24 Dec 2020
Topic Review
GALT Gene
Galactose-1-phosphate uridylyltransferase
  • 945
  • 25 Dec 2020
Topic Review
Senior-Løken Syndrome
Senior-Løken syndrome is a rare disorder characterized by the combination of two specific features: a kidney condition called nephronophthisis and an eye condition known as Leber congenital amaurosis.
  • 945
  • 25 Dec 2020
Topic Review
DNA Methylation in Neurodegenerative Diseases
DNA methylation is critical for the normal development and functioning of the human brain, such as the proliferation and differentiation of neural stem cells, synaptic plasticity, neuronal reparation, learning, and memory. Despite the physical stability of DNA and methylated DNA compared to other epigenetic modifications, some DNA methylation-based biomarkers have translated into clinical practice. Increasing reports indicate a strong association between DNA methylation profiles and various clinical outcomes in neurological diseases, such as neurodegenerative diseases.
  • 945
  • 15 Nov 2022
Topic Review
OPN1SW Gene
opsin 1, short wave sensitive
  • 944
  • 24 Dec 2020
Topic Review
FUS Gene
FUS RNA binding protein
  • 944
  • 25 Dec 2020
Topic Review
Severe Congenital Neutropenia
Severe congenital neutropenia is a condition that causes affected individuals to be prone to recurrent infections.
  • 944
  • 25 Dec 2020
Topic Review
Ohdo Syndrome, Maat-Kievit-Brunner Type
The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterized by intellectual disability and distinctive facial features. It has only been reported in males.
  • 943
  • 24 Dec 2020
Topic Review
LEMD3 Gene
LEM domain containing 3
  • 942
  • 23 Dec 2020
Topic Review
X-linked Lissencephaly with Abnormal Genitalia
X-linked lissencephaly with abnormal genitalia (XLAG) is a condition that affects the development of the brain and genitalia. It occurs most often in males.  
  • 941
  • 24 Dec 2020
Topic Review
Dihydropyrimidine Dehydrogenase Deficiency
Dihydropyrimidine dehydrogenase deficiency is a disorder characterized by a wide range of severity, with neurological problems in some individuals and no signs or symptoms in others.
  • 941
  • 24 Dec 2020
Topic Review
TRPM4 Gene
Transient receptor potential cation channel subfamily M member 4: The TRPM4 gene provides instructions for making a protein called transient receptor potential cation channel subfamily M member 4 (TRPM4). 
  • 941
  • 25 Dec 2020
Topic Review
MMAA Gene
metabolism of cobalamin associated A
  • 940
  • 22 Dec 2020
Topic Review
UNC80 Deficiency
UNC80 deficiency is a severe disorder characterized by nervous system and developmental problems that are apparent from birth or early infancy. The disorder does not typically get worse over time; development of intellectual function and motor skills, such as rolling over and sitting, is slow and limited, but once skills are learned, they are usually retained.  
  • 940
  • 23 Dec 2020
Topic Review
BRAF
B-Raf proto-oncogene, serine/threonine kinase
  • 940
  • 24 Dec 2020
Topic Review
SLC4A1 Gene
solute carrier family 4 member 1 (Diego blood group)
  • 940
  • 24 Dec 2020
Topic Review
FLNB Gene
Filamin B
  • 940
  • 28 Jun 2021
Topic Review
PMP22 Gene
peripheral myelin protein 22
  • 940
  • 25 Dec 2020
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