Find information on Genetic Disorders. More than 30 medical conditions that come under the category of genetic disorders. Some of the Genetic Disorders Include Bardet-Biedl Syndrome, Cohen Syndrome or Pepper Syndrome or Cervenka Syndrome, Familial Medit
Mendelian disorders are the genetic disorder which are mainly caused by the single gene disorders or by the result of mutation in humans.
The best-studied examples of genetically defined developmental disorders, such as Down syndrome (trisomy 21) and velocardiofacial syndrome (del22q11), have been known since before the genomic era and were initially recognized as distinct syndromes based on their own unique constellation of dysmorphic...
There are many types of neurological disorders, including migraine headaches, Alzheimer's and Parkinson's diseases, and cerebral...
aAutism spectrum disorders (ASD) are complex neurodevelopmental diseases in which different combinations of genetic mutations may contribute to the phenotype. Using Rett syndrome (RTT) as an ASD genetic model, we developed a culture system using induced pluripotent stem cells(iPSCs) from RTT patients...
- 《Genetic Testing & Molecular Biomarkers》 被引量: 12发表: 2011年 Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis Mucolipidosis types II and III (ML II/III) are autosomal recessive disorders caused by a deficiency ...
Psychiatric disorders are highly genetically correlated, but little research has been conducted on the genetic differences between disorders. We developed a new method (case–case genome-wide association study; CC-GWAS) to test for differences in allele frequency between cases of two disorders using ...
Before the identification of genetic contributors such asLRRK2, PD was believed to be an archetypal “non-genetic” disease; a view that was supported by early observations that toxin exposure could cause a parkinsonism phenotype42. To date, toxin exposure is still considered an important but und...
In classification and prediction of different types of medical disorders the neuro-fuzzy systems (NFS) are playing vital and significant role. To avoid fal