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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
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
Topic Review
PHKA2 Gene
phosphorylase kinase regulatory subunit alpha 2
  • 1.0K
  • 25 Dec 2020
Topic Review
Estimation of Genetic Ancestry
Admixed populations arise when two or more ancestral populations interbreed. As a result of this admixture, the genome of admixed populations is defined by tracts of variable size inherited from these parental groups and has particular genetic features that provide valuable information about their demographic history. Diverse methods can be used to derive the ancestry apportionment of admixed individuals, and such inferences can be leveraged for the discovery of genetic loci associated with diseases and traits, therefore having important biomedical implications. 
  • 1.0K
  • 09 Jul 2021
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
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
PHGDH Gene
phosphoglycerate dehydrogenase
  • 1.0K
  • 25 Dec 2020
Topic Review
Congenital Metabolic Bone Disorders's Fragility
Bone fragility is a pathological condition caused by altered homeostasis of the mineralized bone mass with deterioration of the microarchitecture of the bone tissue, which results in a reduction of bone strength and an increased risk of fracture, even in the absence of high-impact trauma. The most common cause of bone fragility is primary osteoporosis in the elderly. However, bone fragility can manifest at any age, within the context of a wide spectrum of congenital rare bone metabolic diseases in which the inherited genetic defect alters correct bone modeling and remodeling at different points and aspects of bone synthesis and/or bone resorption, leading to defective bone tissue highly prone to long bone bowing, stress fractures and pseudofractures, and/or fragility fractures. 
  • 1.0K
  • 09 Oct 2021
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
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
Branchio-Oculo-Facial Syndrome
Branchio-oculo-facial syndrome is a condition that affects development before birth, particularly of structures in the face and neck. Its characteristic features include skin anomalies on the neck, malformations of the eyes and ears, and distinctive facial features.
  • 1.0K
  • 24 Dec 2020
Topic Review
Rotor Syndrome
Rotor syndrome is a relatively mild condition characterized by elevated levels of a substance called bilirubin in the blood (hyperbilirubinemia).
  • 1.0K
  • 19 Apr 2021
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
Fraser Syndrome
Fraser syndrome is a rare disorder that affects development starting before birth. Characteristic features of this condition include eyes that are completely covered by skin and usually malformed (cryptophthalmos), fusion of the skin between the fingers and toes (cutaneous syndactyly), and abnormalities of the genitalia and the urinary tract (genitourinary anomalies). Other tissues and organs can also be affected. Depending on the severity of the signs and symptoms, Fraser syndrome can be fatal before or shortly after birth; less severely affected individuals can live into childhood or adulthood.
  • 1.0K
  • 25 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
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
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
GFM1 Gene
G elongation factor mitochondrial 1
  • 1.0K
  • 25 Dec 2020
Topic Review
Ankyrin-B syndrome
Ankyrin-B syndrome is associated with a variety of heart problems related to disruption of the heart's normal rhythm (arrhythmia). Heart rhythm is controlled by electrical signals that move through the heart in a highly coordinated way. In ankyrin-B syndrome, disruption of different steps of electrical signaling can lead to arrhythmia, and the resulting heart problems vary among affected individuals.
  • 1.0K
  • 24 Dec 2020
Topic Review
Aceruloplasminemia
Aceruloplasminemia is a disorder in which iron gradually accumulates in the brain and other organs. Iron accumulation in the brain results in neurological problems that generally appear in adulthood and worsen over time.
  • 1.0K
  • 23 Dec 2020
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