Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2012 | 1 |
2024 | 1 |
Search Results
2 results
Results by year
Filters applied: . Clear all
Page 1
Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.
Brain. 2012 Oct;135(Pt 10):2994-3004. doi: 10.1093/brain/aws224. Epub 2012 Sep 10.
Brain. 2012.
PMID: 22964162
Spastic paraplegia type 7 is an autosomal recessive neurodegenerative disorder mainly characterized by progressive bilateral lower limb spasticity and referred to as a form of hereditary spastic paraplegia. ...Other disease features encountered in this cohort includ …
Spastic paraplegia type 7 is an autosomal recessive neurodegenerative disorder mainly characterized by progressive bilateral l …
Whole Exome Sequencing as a First-Line Molecular Genetic Test in Developmental and Epileptic Encephalopathies.
Vetri L, Calì F, Saccone S, Vinci M, Chiavetta NV, Carotenuto M, Roccella M, Costanza C, Elia M.
Vetri L, et al.
Int J Mol Sci. 2024 Jan 17;25(2):1146. doi: 10.3390/ijms25021146.
Int J Mol Sci. 2024.
PMID: 38256219
Free PMC article.
The aim of this study is to evaluate the use of whole-exome sequencing (WES) as a first-line molecular genetic test in a sample of subjects with DEEs characterized by early-onset drug-resistant epilepsies, associated with global developmental delay and/or intellectual d …
The aim of this study is to evaluate the use of whole-exome sequencing (WES) as a first-line molecular genetic test in a sample of subjects …
Item in Clipboard
Cite
Cite