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Topic Review
CNGA3 Gene
cyclic nucleotide gated channel alpha 3
  • 853
  • 24 Dec 2020
Topic Review
SEPTIN9 Gene
septin 9
  • 853
  • 24 Dec 2020
Topic Review
FZD6 Gene
Frizzled class receptor 6
  • 853
  • 25 Dec 2020
Topic Review
Short/Branched Chain Acyl-CoA Dehydrogenase Deficiency
Short/branched chain acyl-CoA dehydrogenase (SBCAD) deficiency (also known as 2-methylbutyryl-CoA dehydrogenase deficiency) is a rare disorder in which the body is unable to process proteins properly.
  • 853
  • 25 Dec 2020
Topic Review
PHOX2B Gene
paired like homeobox 2B
  • 853
  • 25 Dec 2020
Topic Review
Epigenetic Biomarkers for Neurodegenerative Disorders
Epigenetics is the study of heritable changes in gene expression that occur without alterations to the DNA sequence, linking the genome to its surroundings. The accumulation of epigenetic alterations over the lifespan may contribute to neurodegeneration.
  • 853
  • 19 Jan 2022
Topic Review
GALE Gene
UDP-galactose-4-epimerase
  • 853
  • 25 Dec 2020
Topic Review
MT-TL1 Gene
mitochondrially encoded tRNA leucine 1 (UUA/G)
  • 853
  • 23 Dec 2020
Topic Review
Glucose Phosphate Isomerase Deficiency
Glucose phosphate isomerase (GPI) deficiency is an inherited disorder that affects red blood cells, which carry oxygen to the body's tissues.
  • 852
  • 23 Dec 2020
Topic Review
Histiocytosis-Lymphadenopathy Plus Syndrome
Histiocytosis-lymphadenopathy plus syndrome (also known as SLC29A3 spectrum disorder) is a group of conditions with overlapping signs and symptoms that affect many parts of the body. This group of disorders includes H syndrome, pigmented hypertrichosis with insulin-dependent diabetes mellitus (PHID), Faisalabad histiocytosis, and familial Rosai-Dorfman disease (also known as sinus histiocytosis with massive lymphadenopathy or SHML).
  • 852
  • 23 Dec 2020
Topic Review
X-linked Juvenile Retinoschisis
X-linked juvenile retinoschisis is a condition characterized by impaired vision that begins in childhood and occurs almost exclusively in males.
  • 852
  • 24 Dec 2020
Topic Review
FANCG Gene
FA complementation group G
  • 852
  • 25 Dec 2020
Topic Review
PGAP2 Gene
post-GPI attachment to proteins 2
  • 852
  • 25 Dec 2020
Topic Review
CYP3A5 Genotype
Transplanted patients on tacrolimus treatment are sometimes switched from an immediate release (bid) formulation to a modified release (qd) formulation. Following the switch changes in drug concentrations can be observed. Published data suggest that these changes are more pronounced in CYP3A5 enzyme expressers than in non-expressers. Possibly these differences are due to the fact that in the upper region of the small intestine CYP3A activity is higher, and that this expression of CYP3A decreases towards the more distal parts of the gut. Modified release formulations may therefore be subject to less pre-systemic metabolism. In all patients in whom the formulation of tacrolimus is changed drug levels need to be checked to avoid clinically relevant under- or over-exposure. In patients with the CYP3A5 expresser genotype this recommendation is even more important, as changes in drug exposure can be expected. 
  • 852
  • 18 Jan 2021
Topic Review
RNAse T2-Deficient Leukoencephalopathy
RNAse T2-deficient leukoencephalopathy is a disorder that affects the brain. People with RNAse T2-deficient leukoencephalopathy have neurological problems that become apparent during infancy; the problems generally do not worsen over time (progress).
  • 851
  • 04 Apr 2021
Topic Review
GDF6 Gene
Growth differentiation factor 6
  • 851
  • 25 Dec 2020
Topic Review
Dyskeratosis Congenita
Dyskeratosis congenita is a disorder that can affect many parts of the body. There are three features that are characteristic of this disorder: fingernails and toenails that grow poorly or are abnormally shaped (nail dystrophy); changes in skin coloring (pigmentation), especially on the neck and chest, in a pattern often described as "lacy"; and white patches inside the mouth (oral leukoplakia).
  • 851
  • 24 Dec 2020
Topic Review
HDAC8 Gene
Histone deacetylase 8
  • 850
  • 22 Dec 2020
Topic Review
Lacrimo-Auriculo-Dento-Digital Syndrome
Lacrimo-auriculo-dento-digital (LADD) syndrome is a genetic disorder that mainly affects the eyes, ears, mouth, and hands. LADD syndrome is characterized by defects in the tear-producing lacrimal system (lacrimo-), ear problems (auriculo-), dental abnormalities (dento-), and deformities of the fingers (digital).
  • 850
  • 23 Dec 2020
Topic Review
Pyridoxal 5'-Phosphate-Dependent Epilepsy
Pyridoxal 5'-phosphate-dependent epilepsy is a condition that involves seizures beginning soon after birth or, in some cases, before birth. The seizures typically involve irregular involuntary muscle contractions (myoclonus), abnormal eye movements, and convulsions.
  • 850
  • 24 Dec 2020
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