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Topic Review
Diamond-Blackfan Anemia
Diamond-Blackfan anemia is a disorder that primarily affects the bone marrow. People with this condition often also have physical abnormalities affecting various parts of the body.
  • 1.0K
  • 24 Dec 2020
Topic Review
PCNT Gene
pericentrin
  • 1.0K
  • 25 Dec 2020
Topic Review
YWHAE Gene
Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon
  • 1.0K
  • 24 Dec 2020
Topic Review
TGM5 Gene
Transglutaminase 5: The TGM5 gene provides instructions for making an enzyme called transglutaminase 5. 
  • 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
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
Molecular Epidemiology across Cancer Types in Microsatellite Instability
Microsatellite instability (MSI) occurs in a wide variety of tumor types and is one of the most important predictive biomarkers for immune checkpoint inhibitor therapy.
  • 1.0K
  • 23 Apr 2023
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
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
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
Constitutional Mismatch Repair Deficiency Syndrome
Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare disorder that greatly increases the risk of developing one or more types of cancer in children and young adults. The cancers that most commonly occur in CMMRD syndrome are cancers of the colon (large intestine) and rectum (collectively referred to as colorectal cancer), brain, and blood (leukemia or lymphoma).
  • 1.0K
  • 24 Dec 2020
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
WAS Gene
Wiskott-Aldrich syndrome is characterized by abnormal immune system function (immune deficiency), eczema (an inflammatory skin disorder characterized by abnormal patches of red, irritated skin), and a reduced ability to form blood clots. This condition primarily affects males.
  • 1.0K
  • 24 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
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
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
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
FREM1 Gene
FRAS1 related extracellular matrix 1
  • 1.0K
  • 25 Dec 2020
Topic Review
PHKA2 Gene
phosphorylase kinase regulatory subunit alpha 2
  • 1.0K
  • 25 Dec 2020
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