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Topic Review
RAPADILINO Syndrome
RAPADILINO syndrome is a rare condition that involves many parts of the body. Bone development is especially affected, causing many of the characteristic features of the condition.
  • 803
  • 24 Dec 2020
Topic Review
ABCA3 Gene
ATP binding cassette subfamily A member 3
  • 803
  • 24 Dec 2020
Topic Review
OPN1MW Gene
opsin 1, medium wave sensitive
  • 803
  • 24 Dec 2020
Topic Review
FANCA Gene
FA complementation group A
  • 803
  • 25 Dec 2020
Topic Review
CLCN2-Related Leukoencephalopathy
CLCN2-related leukoencephalopathy is a disorder that affects the brain. People with this condition have neurological problems that become apparent anytime from childhood to adulthood; the problems generally do not worsen much over time. Most affected individuals have difficulty with coordination and balance (ataxia) but can walk without support, and many have frequent headaches. Individuals diagnosed in childhood usually also have learning disabilities, while those whose symptoms begin in adulthood typically also have vision problems. These vision problems are due to breakdown of the light-sensing tissue at the back of the eyes (retinopathy) or degeneration (atrophy) of the optic nerves, which carry information from the eyes to the brain. Some affected individuals have mild muscle stiffness (spasticity). Affected males are unable to father children (infertile).
  • 803
  • 24 Dec 2020
Topic Review
Pyle Disease
Pyle disease is a disorder of the bones. Its hallmark feature is an abnormality of the long bones in the arms and legs in which the ends (metaphyses) of the bones are abnormally broad; the shape of the bones resembles a boat oar or paddle. 
  • 803
  • 24 Dec 2020
Topic Review
Congenital Hepatic Fibrosis
Congenital hepatic fibrosis is a disease of the liver that is present from birth. The liver has many important functions, including producing various substances needed by the body and breaking down other substances into smaller parts to be used or eliminated.
  • 802
  • 24 Dec 2020
Topic Review
DYNC1H1 Gene
Dynein Cytoplasmic 1 Heavy Chain 1
  • 802
  • 24 Dec 2020
Topic Review
STAT1 Gene
Signal transducer and activator of transcription 1: The STAT1 gene provides instructions for making a protein that is involved in multiple immune system functions, including the body's defense against a fungus called Candida.
  • 801
  • 22 Dec 2020
Topic Review
CYBA Gene
Cytochrome B-245 Alpha Chain: The CYBA gene provides instructions for making a protein called the cytochrome b-245 alpha chain (also known as p22-phox). 
  • 801
  • 23 Dec 2020
Topic Review
PMM2-Congenital Disorder of Glycosylation
PMM2-congenital disorder of glycosylation (PMM2-CDG, also known as congenital disorder of glycosylation type Ia) is an inherited condition that affects many parts of the body. The type and severity of problems associated with PMM2-CDG vary widely among affected individuals, sometimes even among members of the same family.
  • 801
  • 07 Mar 2021
Topic Review
FGFR4 Gene
Fibroblast growth factor receptor 4: The FGFR4 gene provides instructions for making a protein called fibroblast growth factor receptor 4. 
  • 801
  • 25 Dec 2020
Topic Review
Familial Restrictive Cardiomyopathy
Familial restrictive cardiomyopathy is a genetic form of heart disease. For the heart to beat normally, the heart (cardiac) muscle must contract and relax in a coordinated way. Oxygen-rich blood from the lungs travels first through the upper chambers of the heart (the atria), and then to the lower chambers of the heart (the ventricles).
  • 801
  • 25 Dec 2020
Topic Review
Frontometaphyseal Dysplasia
Frontometaphyseal dysplasia is a disorder involving abnormalities in skeletal development and other health problems. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 1, otopalatodigital syndrome type 2, Melnick-Needles syndrome, and terminal osseous dysplasia. In general, these disorders involve hearing loss caused by malformations in the tiny bones in the ears (ossicles), problems in the development of the roof of the mouth (palate), and skeletal abnormalities involving the fingers and/or toes (digits).  
  • 801
  • 25 Dec 2020
Topic Review
Human Exome Sequencing and Prospects for Predictive Medicine
Today, whole-exome sequencing (WES) is used to conduct the massive screening of structural and regulatory genes in order to identify the allele frequencies of disease-associated polymorphisms in various populations and thus detect pathogenic genetic changes (mutations or polymorphisms) conducive to malfunctional protein sequences. With its extensive capabilities, exome sequencing today allows both the diagnosis of monogenic diseases (MDs) and the examination of seemingly healthy populations to reveal a wide range of potential risks prior to disease manifestation (in the future, exome sequencing may outpace costly and less informative genome sequencing to become the first-line examination technique). This research establishes the human genetic passport as a new WES-based clinical concept for the identification of new candidate genes, gene variants, and molecular mechanisms in the diagnosis, prediction, and treatment of monogenic, oligogenic, and multifactorial diseases. Various diseases are addressed to demonstrate the extensive potential of WES and consider its advantages as well as disadvantages. Thus, WES can become a general test with a broad spectrum pf applications, including opportunistic screening
  • 801
  • 29 Aug 2023
Topic Review
HADHB Gene
Hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
  • 800
  • 22 Dec 2020
Topic Review
TSPYL1 Gene
TSPY-like 1
  • 800
  • 23 Dec 2020
Topic Review
RB1 Gene
RB transcriptional corepressor 1
  • 800
  • 23 Dec 2020
Topic Review
CAV3-Related Distal Myopathy
CAV3-related distal myopathy is one form of distal myopathy, a group of disorders characterized by weakness and loss of function affecting the muscles farthest from the center of the body (distal muscles), such as those of the hands and feet.
  • 800
  • 24 Dec 2020
Topic Review
OPA1 Gene
OPA1, mitochondrial dynamin like GTPase
  • 800
  • 24 Dec 2020
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