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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.
  • 715
  • 20 Nov 2023
Topic Review
Melorheostosis
Melorheostosis is a rare bone disease.
  • 714
  • 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.
  • 714
  • 23 Dec 2020
Topic Review
ANKRD11 Gene
ankyrin repeat domain 11
  • 714
  • 24 Dec 2020
Topic Review
SCNN1B Gene
sodium channel epithelial 1 beta subunit
  • 714
  • 24 Dec 2020
Topic Review
Congenital Diaphragmatic Hernia
Congenital diaphragmatic hernia is a defect in the diaphragm.
  • 714
  • 24 Dec 2020
Topic Review
DSC2 Gene
Desmocollin 2: The DSC2 gene provides instructions for making a protein called desmocollin-2. 
  • 714
  • 24 Dec 2020
Topic Review
NOP56 Gene
NOP56 ribonucleoprotein
  • 714
  • 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.
  • 714
  • 24 Dec 2020
Topic Review
FKRP Gene
Fukutin related protein: The FKRP gene provides instructions for making a protein called fukutin-related protein (FKRP). 
  • 714
  • 25 Dec 2020
Topic Review
RAI1 Gene
retinoic acid induced 1
  • 713
  • 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.
  • 713
  • 24 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.
  • 713
  • 24 Dec 2020
Topic Review
Raynaud Phenomenon
Raynaud phenomenon is a condition in which the body's normal response to cold or emotional stress is exaggerated, resulting in abnormal spasms (vasospasms) in small blood vessels called arterioles.
  • 713
  • 24 Dec 2020
Topic Review
Rothmund-Thomson Syndrome
Rothmund-Thomson syndrome is a rare condition that affects many parts of the body, especially the skin.
  • 713
  • 24 Dec 2020
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.  
  • 712
  • 23 Dec 2020
Topic Review
NGF Gene
nerve growth factor
  • 712
  • 23 Dec 2020
Topic Review
HSPG2 Gene
Heparan sulfate proteoglycan 2
  • 711
  • 23 Dec 2020
Topic Review
IL36RN Gene
Interleukin 36 receptor antagonist
  • 711
  • 23 Dec 2020
Topic Review
WNK1 Gene
WNK lysine deficient protein kinase 1.
  • 711
  • 24 Dec 2020
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