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Topic Review
Familial Porencephaly
Familial porencephaly is part of a group of conditions called the COL4A1-related disorders.
  • 926
  • 25 Dec 2020
Topic Review
DPYS Gene
Dihydropyrimidinase
  • 926
  • 04 Jan 2021
Topic Review
Ocular Albinism
Ocular albinism is a genetic condition that primarily affects the eyes. This condition reduces the coloring (pigmentation) of the iris, which is the colored part of the eye, and the retina, which is the light-sensitive tissue at the back of the eye. Pigmentation in the eye is essential for normal vision.
  • 926
  • 24 Dec 2020
Topic Review
Prescription Opioid Misuse
Prescription opioids are used for some chronic pain conditions. However, generally, long-term therapy has unwanted side effects which may trigger addiction, overdose, and eventually cause deaths. Opioid addiction and chronic pain conditions have both been associated with evidence of genetic and epigenetic alterations. Despite intense research interest, many questions about the contribution of epigenetic changes to this typology of addiction vulnerability and development remain unanswered.
  • 926
  • 06 Sep 2021
Topic Review
H19
H19, imprinted maternally expressed transcript
  • 925
  • 22 Dec 2020
Topic Review
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis (SVAS) is a heart defect that develops before birth.
  • 925
  • 23 Dec 2020
Topic Review
NOD2 Gene
nucleotide binding oligomerization domain containing 2
  • 925
  • 24 Dec 2020
Topic Review
TGFB1 Gene
transforming growth factor beta 1
  • 925
  • 25 Dec 2020
Topic Review
Familial Cold Autoinflammatory Syndrome
Familial cold autoinflammatory syndrome is a condition that causes episodes of fever, skin rash, and joint pain after exposure to cold temperatures. These episodes usually begin in infancy and occur throughout life.
  • 925
  • 25 Dec 2020
Topic Review
Fanconi Anemia
Fanconi anemia is a condition that affects many parts of the body. People with this condition may have bone marrow failure, physical abnormalities, organ defects, and an increased risk of certain cancers.
  • 925
  • 25 Dec 2020
Topic Review
Glucose-6-Phosphate Dehydrogenase Deficiency
Glucose-6-phosphate dehydrogenase deficiency is a genetic disorder that occurs almost exclusively in males.
  • 924
  • 23 Dec 2020
Topic Review
5q31.3 Microdeletion Syndrome
5q31.3 microdeletion syndrome is a condition characterized by severely delayed development of speech and motor skills, such as walking. Beginning in infancy, affected individuals also have weak muscle tone (hypotonia), feeding difficulties, and breathing problems. Breathing problems and difficulty swallowing (dysphagia) can be life-threatening.
  • 924
  • 23 Dec 2020
Topic Review
Trisomy 13
Trisomy 13, also called Patau syndrome, is a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body.
  • 924
  • 23 Dec 2020
Topic Review
Vibratory Urticaria
Vibratory urticaria is a condition in which exposing the skin to vibration, repetitive stretching, or friction results in allergy symptoms such as hives (urticaria), swelling (angioedema), redness (erythema), and itching (pruritus) in the affected area.
  • 924
  • 23 Dec 2020
Topic Review
MyD88 Deficiency
MyD88 deficiency is an inherited disorder of the immune system (primary immunodeficiency).
  • 924
  • 23 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.
  • 924
  • 24 Dec 2020
Topic Review
Sporadic Hemiplegic Migraine
Sporadic hemiplegic migraine is a rare form of migraine headache. Migraines typically cause intense, throbbing pain in one area of the head. Some people with migraines also experience nausea, vomiting, and sensitivity to light and sound. These recurrent headaches typically begin in childhood or adolescence and can be triggered by certain foods, emotional stress, and minor head trauma. Each headache may last from a few hours to a few days.
  • 924
  • 23 Dec 2020
Topic Review
Loeys-Dietz Syndrome
Loeys-Dietz syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles, and blood vessels.
  • 923
  • 24 Dec 2020
Topic Review
EIF2AK4 Gene
Eukaryotic translation initiation factor 2 alpha kinase 4
  • 923
  • 25 Dec 2020
Topic Review
POGLUT1 Gene
protein O-glucosyltransferase 1
  • 923
  • 25 Dec 2020
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