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Topic Review
Nijmegen Breakage Syndrome
Nijmegen breakage syndrome is a condition characterized by short stature, an unusually small head size (microcephaly), distinctive facial features, recurrent respiratory tract infections, an increased risk of cancer, intellectual disability, and other health problems.
  • 925
  • 24 Dec 2020
Topic Review
Diastrophic Dysplasia
Diastrophic dysplasia is a disorder of cartilage and bone development. Affected individuals have short stature with very short arms and legs.
  • 925
  • 24 Dec 2020
Topic Review
Tetrasomy 18p
Tetrasomy 18p is a chromosomal condition that affects many parts of the body. This condition usually causes feeding difficulties in infancy, delayed development, intellectual disability that is often mild to moderate but can be severe, changes in muscle tone, distinctive facial features, and other birth defects. However, the signs and symptoms vary among affected individuals.  
  • 925
  • 23 Dec 2020
Topic Review
Genetic Comparison of SCA Cohorts
Genetic analysis of admixed populations raises special concerns with regard to study design and data processing, particularly to avoid population stratification biases. The point mutation responsible for sickle cell anaemia codes for a variant hemoglobin, sickle hemoglobin or HbS, whose presence drives the pathophysiology of disease. 
  • 925
  • 25 Dec 2020
Topic Review
MyD88 Deficiency
MyD88 deficiency is an inherited disorder of the immune system (primary immunodeficiency).
  • 924
  • 23 Dec 2020
Topic Review
AIRE Gene
autoimmune regulator
  • 924
  • 24 Dec 2020
Topic Review
Metagenomic Approach and Lichen Molecules Linked to Genes
Lichen secondary metabolites have tremendous pharmaceutical and industrial potential. Although more than 1000 metabolites have been reported from lichens, less than 10 have been linked to the genes coding them. Biosynthetic research focuses strongly on linking molecules to genes as this is fundamental to adapting the molecule for industrial application. Metagenomic-based gene discovery, which bypasses the challenges associated with culturing an organism, is a promising way forward to link secondary metabolites to genes in non-model, difficult-to-culture organisms. 
  • 924
  • 03 Feb 2023
Topic Review
Tyrosinemia
Tyrosinemia is a genetic disorder characterized by disruptions in the multistep process that breaks down the amino acid tyrosine, a building block of most proteins. If untreated, tyrosine and its byproducts build up in tissues and organs, which can lead to serious health problems.    
  • 923
  • 23 Dec 2020
Topic Review
Prader-Willi Syndrome
Prader-Willi syndrome is a complex genetic condition that affects many parts of the body. In infancy, this condition is characterized by weak muscle tone (hypotonia), feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating (hyperphagia) and obesity. Some people with Prader-Willi syndrome, particularly those with obesity, also develop type 2 diabetes (the most common form of diabetes).
  • 923
  • 24 Dec 2020
Topic Review
DSPP Gene
Dentin Sialophosphoprotein: The DSPP gene provides instructions for making a protein called dentin sialophosphoprotein. 
  • 923
  • 24 Dec 2020
Topic Review
KRT1 Gene
Keratin 1
  • 922
  • 23 Dec 2020
Topic Review
Combined Pituitary Hormone Deficiency
Combined pituitary hormone deficiency is a condition that causes a shortage (deficiency) of several hormones produced by the pituitary gland, which is located at the base of the brain. A lack of these hormones may affect the development of many parts of the body. The first signs of this condition include a failure to grow at the expected rate and short stature that usually becomes apparent in early childhood.
  • 922
  • 24 Dec 2020
Topic Review
NR3C2 Gene
nuclear receptor subfamily 3 group C member 2
  • 922
  • 24 Dec 2020
Topic Review
PMS2 Gene
PMS1 homolog 2, mismatch repair system component
  • 922
  • 25 Dec 2020
Topic Review
Beta-Mannosidosis
Beta-mannosidosis is a rare inherited disorder affecting the way certain sugar molecules are processed in the body.
  • 921
  • 24 Dec 2020
Topic Review
Progressive Osseous Heteroplasia
Progressive osseous heteroplasia is a disorder in which bone forms within skin and muscle tissue.
  • 921
  • 24 Dec 2020
Topic Review
PABPN1 Gene
poly(A) binding protein nuclear 1
  • 921
  • 24 Dec 2020
Topic Review
TGFBR1 Gene
transforming growth factor beta receptor 1
  • 921
  • 25 Dec 2020
Topic Review
POLR3A Gene
RNA polymerase III subunit A
  • 921
  • 25 Dec 2020
Topic Review
Parkes Weber Syndrome
Parkes Weber syndrome is a disorder of the vascular system, which is the body's complex network of blood vessels. The vascular system consists of arteries, which carry oxygen-rich blood from the heart to the body's various organs and tissues; veins, which carry blood back to the heart; and capillaries, which are tiny blood vessels that connect arteries and veins.
  • 921
  • 24 Dec 2020
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