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Results 391 - 400 of 418 for retinitis pigmentosa
  • The Chemistry of Human Vision – The Retinoid Cycle
    Health - 20 Apr 2022
    The retinoid cycle, also called the visual cycle, is a complex system which replenishes the compounds that are needed for light to activate the receptors in the eye. This cycle was first described in...
  • What is Barakat Syndrome?
    Health - 1 Dec 2021
    The Barakat syndrome, also known as HDR syndrome, is a clinically variable (heterogeneous) rare genetic condition first identified by Barakat et al. in 1977.
  • What is Usher Syndrome?
    Health - 11 Mar 2021
    Usher syndrome is a rare genetic disorder that affects approximately 1 in 25,000 babies born and causes hearing and vision loss, often accompanied by balance problems. The syndrome accounts for 3-6%...
  • Noonan Syndrome Symptoms
    Health - 9 Feb 2021
    Noonan syndrome is one of the most common non-chromosomal disorders in children with congenital heart disease.
  • What are Biological Phosphors?
    Life Sciences - 3 Feb 2020
    Phosphors refer to a group of solid materials that emit visible light, or luminesces, in response to exposure to radiation in the form of ultraviolet light or an electron beam.
  • Primary Ciliary Dyskinesia Genetics
    Health - 27 Feb 2019
    Primary ciliary dyskinesia (PCD) is a congenital disorder of heterogeneous genetic origin. It is inherited in an autosomal recessive manner.
  • Leber Congenital Amaurosis Diagnosis
    Health - 26 Feb 2019
    The condition called Leber Congenital Amaurosis (LCA) is an inherited one, caused by the transmission of two copies of a defective or mutated gene, one from each parent, which results in abnormal...
  • What is Leber Congenital Amaurosis?
    Health - 26 Feb 2019
    Leber congenital amaurosis (LCA) is a very severe form of congenital blindness due to hereditary retinal dystrophy. It was first identified by Theodore Leber in 1869, and is diagnosed early in infancy...
  • Charles Bonnet Syndrome Signs and Symptoms
    Health - 27 Nov 2018
    Charles Bonnet Syndrome (CBS) is a medical condition experienced by people who have deteriorating eyesight wherein they see things or objects that are not real.
  • DNA-directed RNA interference and hepatitis C: an interview with Carl Stubbings, Chief Business Officer, Benitec Biopharma
    News - 19 May 2014
    RNA interference (RNAi) is a naturally occurring process, which cells can use to silence, or ‘turn off’ unwanted genes.

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