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Topic Review
LIPA Gene
Lipase A, lysosomal acid type
  • 920
  • 23 Dec 2020
Topic Review
CHRNA2 Gene
cholinergic receptor nicotinic alpha 2 subunit
  • 920
  • 24 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.
  • 920
  • 25 Dec 2020
Topic Review
Familial Porencephaly
Familial porencephaly is part of a group of conditions called the COL4A1-related disorders.
  • 920
  • 25 Dec 2020
Topic Review
Retrospective Genetic Analysis in Sweet Watermelon
Understanding the genetic basis of a crop’s qualitative and quantitative traits is vital to designing market preferred varieties. Sweet watermelon [Citrullus lanatus (Thunb.) Matsum. and Nakai var. lanatus; 2n = 2x = 22] is an important cucurbit crop belonging to the family Cucurbitaceae of the genus Citrullus. 
  • 920
  • 21 Jul 2022
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.
  • 919
  • 23 Dec 2020
Topic Review
KMT2D Gene
Lysine methyltransferase 2D
  • 919
  • 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.
  • 919
  • 23 Dec 2020
Topic Review
Chromosome 6
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 6, one copy inherited from each parent, form one of the pairs.
  • 919
  • 24 Dec 2020
Topic Review
Desmosterolosis
Desmosterolosis is a condition that is characterized by neurological problems, such as brain abnormalities and developmental delay, and can also include other signs and symptoms.
  • 919
  • 24 Dec 2020
Topic Review
PABPN1 Gene
poly(A) binding protein nuclear 1
  • 919
  • 24 Dec 2020
Topic Review
GATA1 Gene
GATA binding protein 1
  • 919
  • 25 Dec 2020
Topic Review
Beta-Mannosidosis
Beta-mannosidosis is a rare inherited disorder affecting the way certain sugar molecules are processed in the body.
  • 918
  • 24 Dec 2020
Topic Review
NSD2 Gene
nuclear receptor binding SET domain protein 2
  • 918
  • 24 Dec 2020
Topic Review
Factor XI Deficiency
Factor XI deficiency is a disorder that can cause abnormal bleeding due to a shortage (deficiency) of the factor XI protein, which is involved in blood clotting.
  • 918
  • 25 Dec 2020
Topic Review
TNNT2 Gene
Troponin T2, cardiac type: The TNNT2 gene provides instructions for making a protein called cardiac troponin T, which is found solely in the heart (cardiac) muscle.
  • 918
  • 25 Dec 2020
Topic Review
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis (SVAS) is a heart defect that develops before birth.
  • 917
  • 23 Dec 2020
Topic Review
MyD88 Deficiency
MyD88 deficiency is an inherited disorder of the immune system (primary immunodeficiency).
  • 917
  • 23 Dec 2020
Topic Review
X-linked Lymphoproliferative Disease
X-linked lymphoproliferative disease (XLP) is a disorder of the immune system and blood-forming cells that is found almost exclusively in males.
  • 917
  • 24 Dec 2020
Topic Review
SOX9
SRY-box 9
  • 917
  • 24 Dec 2020
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