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Topic Review
CRISPR/Cas Technology
CRISPR/Cas (clustered regularly interspaced short palindromic repeats linked to Cas nuclease) technology has revolutionized many aspects of genetic engineering research. The changes introduced by the CRISPR/Cas system are based on the repair paths of the single or double strand DNA breaks that cause insertions, deletions, or precise integrations of donor DNA.
  • 1.0K
  • 29 Apr 2021
Topic Review
Bardet-Biedl Syndrome
Bardet-Biedl syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.
  • 1.0K
  • 24 Dec 2020
Topic Review
PCNT Gene
pericentrin
  • 1.0K
  • 25 Dec 2020
Topic Review
Hereditary Transthyretin-Related Amyloidosis
Point mutations of the transthyretin (TTR) gene are related with hereditary amyloidosis (hATTR), a rare disease whose real incidence is only partially estimated. Somatic mosaicism and other genetic factors influence the expressivity, complexity, progression, and transmission of the disease and should be better investigated, to improve the time to diagnosis and to estimate the real number of cases in endemic and non-endemic areas. 
  • 1.0K
  • 21 Oct 2022
Topic Review
Tarsal-carpal Coalition Syndrome
Tarsal-carpal coalition syndrome is a rare, inherited bone disorder that affects primarily the hands and feet.
  • 1.0K
  • 23 Dec 2020
Topic Review
Dystrophic Epidermolysis Bullosa
Dystrophic epidermolysis bullosa is one of the major forms of a group of conditions called epidermolysis bullosa.
  • 1.0K
  • 25 Dec 2020
Topic Review
FREM1 Gene
FRAS1 related extracellular matrix 1
  • 1.0K
  • 25 Dec 2020
Topic Review
22q13.3 Deletion Syndrome
22q13.3 deletion syndrome, which is also known as Phelan-McDermid syndrome, is a disorder caused by the loss of a small piece of chromosome 22. The deletion occurs near the end of the chromosome at a location designated q13.3.  
  • 1.0K
  • 25 Dec 2020
Topic Review
Simpson-Golabi-Behmel Syndrome
Simpson-Golabi-Behmel syndrome is a condition that affects many parts of the body and occurs primarily in males.
  • 1.0K
  • 25 Dec 2020
Topic Review
SATB2-Associated Syndrome
SATB2-associated syndrome is a condition that affects several body systems. It is characterized by intellectual disability, severe speech problems, dental abnormalities, other abnormalities of the head and face (craniofacial anomalies), and behavioral problems.
  • 1.0K
  • 24 Dec 2020
Topic Review
GFM1 Gene
G elongation factor mitochondrial 1
  • 1.0K
  • 25 Dec 2020
Topic Review
PHKA2 Gene
phosphorylase kinase regulatory subunit alpha 2
  • 1.0K
  • 25 Dec 2020
Topic Review
Liebenberg Syndrome
Liebenberg syndrome is a condition that involves abnormal development of the arms, resulting in characteristic arm malformations that can vary in severity.
  • 1.0K
  • 24 Dec 2020
Topic Review
Gene Therapy for Corneal Diseases
One of the most remarkable advancements in medical treatments of corneal diseases in recent decades has been corneal transplantation. Corneal defects and diseases are one of the leading causes of blindness globally; therefore, there is a need for gene-based interventions that may mitigate some of these challenges and help reduce the burden of blindness. Corneas being immune-advantaged, uniquely avascular, and transparent is ideal for gene therapy approaches.
  • 1.0K
  • 13 Jul 2023
Topic Review
Cap Myopathy
Cap myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with cap myopathy have muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body, but they are most severely affected in the muscles of the face, neck, and limbs. The muscle weakness, which begins at birth or during childhood, can worsen over time.
  • 1.0K
  • 24 Dec 2020
Topic Review
NR5A1 Gene
nuclear receptor subfamily 5 group A member 1
  • 1.0K
  • 24 Dec 2020
Topic Review
Meckel Syndrome
Meckel syndrome is a disorder with severe signs and symptoms that affect many parts of the body.
  • 1.0K
  • 23 Dec 2020
Topic Review
Kabuki Syndrome
Kabuki syndrome is a disorder that affects many parts of the body. It is characterized by distinctive facial features including arched eyebrows; long eyelashes; long openings of the eyelids (long palpebral fissures) with the lower lids turned out (everted) at the outside edges; a flat, broadened tip of the nose; and large protruding earlobes. The name of this disorder comes from the resemblance of its characteristic facial appearance to stage makeup used in traditional Japanese Kabuki theater.
  • 1.0K
  • 23 Dec 2020
Topic Review
X-linked Chondrodysplasia Punctata 2
X-linked chondrodysplasia punctata 2 is a disorder characterized by bone, skin, and eye abnormalities. It occurs almost exclusively in females.  
  • 1.0K
  • 24 Dec 2020
Topic Review
Zellweger Spectrum Disorder
Zellweger spectrum disorder is a group of conditions that have overlapping signs and symptoms and affect many parts of the body.
  • 1.0K
  • 24 Dec 2020
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