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Topic Review
Chilling Requirement Validation
The introduction of herbaceous peony (Paeonia lactiflora Pall.) in low-latitude areas is of great significance to expand the landscape application of this world-famous ornamental. With the hazards of climate warming, warm winters occurs frequently, which makes many excellent northern herbaceous peony cultivars unable to meet their chilling requirements (CR) and leads to their poor growth and flowering in southern China. Exploring the endodormancy release mechanism of underground buds is crucial for improving low-CR cultivar screening and breeding. 
  • 723
  • 31 Aug 2021
Topic Review
Thrombocytopenia-absent Radius Syndrome
Thrombocytopenia-absent radius (TAR) syndrome is characterized by the absence of a bone called the radius in each forearm and a shortage (deficiency) of blood cells involved in clotting (platelets). This platelet deficiency (thrombocytopenia) usually appears during infancy and becomes less severe over time; in some cases the platelet levels become normal.  
  • 722
  • 23 Dec 2020
Topic Review
Abdominal Wall Defect
An abdominal wall defect is an opening in the abdomen through which various abdominal organs can protrude. This opening varies in size and can usually be diagnosed early in fetal development, typically between the tenth and fourteenth weeks of pregnancy. There are two main types of abdominal wall defects: omphalocele and gastroschisis. Omphalocele is an opening in the center of the abdominal wall where the umbilical cord meets the abdomen. Organs (typically the intestines, stomach, and liver) protrude through the opening into the umbilical cord and are covered by the same protective membrane that covers the umbilical cord. Gastroschisis is a defect in the abdominal wall, usually to the right of the umbilical cord, through which the large and small intestines protrude (although other organs may sometimes bulge out). There is no membrane covering the exposed organs in gastroschisis.
  • 722
  • 04 Feb 2021
Topic Review
PSEN1 Gene
presenilin 1
  • 722
  • 23 Dec 2020
Topic Review
Behçet Disease
Behçet disease is an inflammatory condition that affects many parts of the body. The health problems associated with Behçet disease result from widespread inflammation of blood vessels (vasculitis). This inflammation most commonly affects small blood vessels in the mouth, genitals, skin, and eyes.
  • 722
  • 24 Dec 2020
Topic Review
HSPG2 Gene
Heparan sulfate proteoglycan 2
  • 721
  • 23 Dec 2020
Topic Review
Nonsyndromic Hearing Loss
Nonsyndromic hearing loss is a partial or total loss of hearing that is not associated with other signs and symptoms. In contrast, syndromic hearing loss occurs with signs and symptoms affecting other parts of the body.
  • 721
  • 24 Dec 2020
Topic Review
Atypical Hemolytic-Uremic Syndrome
Atypical hemolytic-uremic syndrome is a disease that primarily affects kidney function. This condition, which can occur at any age, causes abnormal blood clots (thrombi) to form in small blood vessels in the kidneys. These clots can cause serious medical problems if they restrict or block blood flow. Atypical hemolytic-uremic syndrome is characterized by three major features related to abnormal clotting: hemolytic anemia, thrombocytopenia, and kidney failure.
  • 721
  • 24 Dec 2020
Topic Review
SCNN1B Gene
sodium channel epithelial 1 beta subunit
  • 721
  • 24 Dec 2020
Topic Review
DSC2 Gene
Desmocollin 2: The DSC2 gene provides instructions for making a protein called desmocollin-2. 
  • 721
  • 24 Dec 2020
Topic Review
Pantothenate Kinase-Associated Neurodegeneration
Pantothenate kinase-associated neurodegeneration (formerly called Hallervorden-Spatz syndrome) is a disorder of the nervous system.
  • 721
  • 24 Dec 2020
Topic Review
Epitranscriptomics
Epitranscriptomics means the field of RNA modifications, which has been extended to other RNA molecules, including protein-coding genes, microRNAs (miRNAs) and long non-coding RNAs (lncRNAs). 
  • 721
  • 18 May 2021
Topic Review
Mitochondrial tRNASer(UCN) Gene
Mitochondrial tRNASer(UCN) is considered a hot-spot for non-syndromic and aminoglycoside-induced hearing loss. However, many patients have been described with more extensive neurological diseases, mainly including epilepsy, myoclonus, ataxia, and myopathy. 
  • 721
  • 24 Feb 2023
Topic Review
VKORC1 Gene
Vitamin K epoxide reductase complex subunit 1.
  • 720
  • 23 Dec 2020
Topic Review
NGF Gene
nerve growth factor
  • 720
  • 23 Dec 2020
Topic Review
CTSD Gene
Cathepsin D: The CTSD gene provides instructions for making an enzyme called cathepsin D.
  • 720
  • 23 Dec 2020
Topic Review
ALG1-congenital Disorder of Glycosylation
ALG1-congenital disorder of glycosylation (ALG1-CDG, also known as congenital disorder of glycosylation type Ik) is an inherited disorder with varying signs and symptoms that typically develop during infancy and can affect several body systems.
  • 720
  • 23 Dec 2020
Topic Review
Niemann-Pick Disease
Niemann-Pick disease is a condition that affects many body systems. It has a wide range of symptoms that vary in severity. Niemann-Pick disease is divided into four main types: type A, type B, type C1, and type C2. These types are classified on the basis of genetic cause and the signs and symptoms of the condition.
  • 720
  • 24 Dec 2020
Topic Review
ANKRD11 Gene
ankyrin repeat domain 11
  • 720
  • 24 Dec 2020
Topic Review
Preimplantation Genetic Testing for Cancer Predisposition Syndromes
Cancer Predisposition Syndromes (CPSs), also known as Hereditary Cancer Syndromes (HCSs), represent a group of genetic disorders associated with an increased lifetime risk of developing cancer.
  • 720
  • 20 Nov 2023
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