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 |
---|---|
2020 | 1 |
2022 | 1 |
2024 | 0 |
Search Results
2 results
Results by year
Filters applied: . Clear all
Page 1
The tale of two genes: from next-generation sequencing to phenotype.
Cold Spring Harb Mol Case Stud. 2020 Apr 1;6(2):a004846. doi: 10.1101/mcs.a004846. Print 2020 Apr.
Cold Spring Harb Mol Case Stud. 2020.
PMID: 31969346
Free PMC article.
This case highlights the utility of next-generation sequencing in patients with an unusual combination of clinical presentations for several pillars of precision medicine including (1) diagnosis, (2) prognosis and outcome, (3) management and therapy, and (4) utilization of …
This case highlights the utility of next-generation sequencing in patients with an unusual combination of clinical presentations for several …
Biallelic SEPSECS variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease.
Ramadesikan S, Hickey S, De Los Reyes E, Patel AD, Franklin SJ, Brennan P, Crist E, Lee K, White P, McBride KL, Koboldt DC, Wilson RK.
Ramadesikan S, et al.
Cold Spring Harb Mol Case Stud. 2022 Mar 24;8(2):a006165. doi: 10.1101/mcs.a006165. Print 2022 Feb.
Cold Spring Harb Mol Case Stud. 2022.
PMID: 35091508
Free PMC article.
The other variant was a coding change (c.846G > A) that was predicted to be synonymous but had been demonstrated to disrupt mRNA splicing in a minigene assay. ...
The other variant was a coding change (c.846G > A) that was predicted to be synonymous but had been demonstrated to disrupt mRNA s …
Item in Clipboard
Cite
Cite