Your browser does not fully support modern features. Please upgrade for a smoother experience.
Subject:
All Disciplines Arts & Humanities Biology & Life Sciences Business & Economics Chemistry & Materials Science Computer Science & Mathematics Engineering Environmental & Earth Sciences Medicine & Pharmacology Physical Sciences Public Health & Healthcare Social Sciences
Sort by:
Most Viewed Latest Alphabetical (A-Z) Alphabetical (Z-A)
Filter:
All Topic Review Biography Peer Reviewed Entry Video Entry
Topic Review
CFHR5 Gene
complement factor H related 5
  • 748
  • 24 Dec 2020
Topic Review
CLN8 Gene
CLN8, transmembrane ER and ERGIC protein
  • 748
  • 24 Dec 2020
Topic Review
SYNGAP1-Related Intellectual Disability
SYNGAP1-related intellectual disability is a neurological disorder characterized by moderate to severe intellectual disability that is evident in early childhood. 
  • 748
  • 24 Dec 2020
Topic Review
Congenital Generalized Lipodystrophy
Congenital generalized lipodystrophy (also called Berardinelli-Seip congenital lipodystrophy) is a rare condition characterized by an almost total lack of fatty (adipose) tissue in the body and a very muscular appearance.
  • 748
  • 24 Dec 2020
Topic Review
Hyperferritinemia-Cataract Syndrome
Hyperferritinemia-cataract syndrome is a disorder characterized by an excess of an iron storage protein called ferritin in the blood (hyperferritinemia) and tissues of the body.
  • 747
  • 23 Dec 2020
Topic Review
ALG6-congenital Disorder of Glycosylation
ALG6-congenital disorder of glycosylation (ALG6-CDG, also known as congenital disorder of glycosylation type Ic) is an inherited condition that affects many parts of the body. The signs and symptoms of ALG6-CDG vary widely among people with the condition.
  • 747
  • 23 Dec 2020
Topic Review
DARS2 Gene
Aspartyl-tRNA Synthetase 2, Mitochondrial: The DARS2 gene provides instructions for making an enzyme called mitochondrial aspartyl-tRNA synthetase. 
  • 747
  • 23 Dec 2020
Topic Review
Retroperitoneal Fibrosis
Retroperitoneal fibrosis is a disorder in which inflammation and extensive scar tissue (fibrosis) occur in the back of the abdominal cavity, behind (retro-) the membrane that surrounds the organs of the digestive system (the peritoneum).
  • 747
  • 24 Dec 2020
Topic Review
DOLK Gene
Dolichol Kinase
  • 747
  • 24 Dec 2020
Topic Review
COQ2 Gene
coenzyme Q2, polyprenyltransferase
  • 747
  • 24 Dec 2020
Topic Review
MITF Gene
melanocyte inducing transcription factor
  • 746
  • 22 Dec 2020
Topic Review
Mucolipidosis Type IV
Mucolipidosis type IV is an inherited disorder characterized by delayed development and vision impairment that worsens over time. The severe form of the disorder is called typical mucolipidosis type IV, and the mild form is called atypical mucolipidosis type IV.
  • 746
  • 23 Dec 2020
Topic Review
Clouston Syndrome
Clouston syndrome is a form of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of some or all of the ectodermal structures, which include the skin, hair, nails, teeth, and sweat glands. Specifically, Clouston syndrome is characterized by abnormalities of the hair, nails, and skin, with the teeth and sweat glands being unaffected.
  • 746
  • 24 Dec 2020
Topic Review
Rhabdoid Tumor Predisposition Syndrome
Rhabdoid tumor predisposition syndrome (RTPS) is characterized by a high risk of developing cancerous (malignant) growths called rhabdoid tumors.
  • 746
  • 24 Dec 2020
Topic Review
Early Prenatal Alcohol Exposure
Prenatal alcohol exposure (PAE) is the underlying cause for a variety of birth defects referred to as Fetal Alcohol Spectrum Disorders (FASD).
  • 746
  • 03 Aug 2021
Topic Review
PRRT2 Gene
proline rich transmembrane protein 2
  • 745
  • 22 Dec 2020
Topic Review
Infantile-Onset Spinocerebellar Ataxia
Infantile-onset spinocerebellar ataxia (IOSCA) is a progressive disorder that affects the nervous system.
  • 745
  • 23 Dec 2020
Topic Review
CLN3 Disease
CLN3 disease is an inherited disorder that primarily affects the nervous system. After 4 to 6 years of normal development, children with this condition develop vision impairment, intellectual disability, movement problems, speech difficulties, and seizures, which worsen over time.
  • 745
  • 24 Dec 2020
Topic Review
SERPINI1 Gene
serpin family I member 1
  • 745
  • 24 Dec 2020
Topic Review
EVC2 Gene
EvC ciliary complex subunit 2
  • 745
  • 24 Dec 2020
  • Page
  • of
  • 135
Featured Entry Collections
>>

Featured Reprints

>>
Encyclopedia of Digital Society, Industry 5.0 and Smart City
Encyclopedia of Engineering
Encyclopedia of Social Sciences
Encyclopedia of Medieval Royal Iconography
Academic Video Service
Feedback