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 |
---|---|
2019 | 1 |
2020 | 1 |
2023 | 2 |
2024 | 1 |
Search Results
3 results
Results by year
Filters applied: . Clear all
Page 1
Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.
Am J Med Genet A. 2024 Mar;194(3):e63466. doi: 10.1002/ajmg.a.63466. Epub 2023 Nov 10.
Am J Med Genet A. 2024.
PMID: 37949664
RNA sequencing resolves novel DYNC2H1 variants causing short-rib thoracic dysplasia type 3: Case report.
Marshall AE, MacDonald SK, Liang Y, Couse M; Care4Rare Canada Consortium; Boycott KM, Richer J, Kernohan KD.
Marshall AE, et al.
Mol Genet Genomic Med. 2023 Oct;11(10):e2247. doi: 10.1002/mgg3.2247. Epub 2023 Jul 24.
Mol Genet Genomic Med. 2023.
PMID: 37489014
Free PMC article.
Item in Clipboard
Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities.
Bend R, Cohen L, Carter MT, Lyons MJ, Niyazov D, Mikati MA, Rojas SK, Person RE, Si Y, Wentzensen IM; Regeneron Genetics Center; Torti E, Lee JA, Boycott KM, Basel-Salmon L, Ferreira CR, Gonzaga-Jauregui C.
Bend R, et al.
Eur J Hum Genet. 2020 Jan;28(1):76-87. doi: 10.1038/s41431-019-0487-1. Epub 2019 Aug 8.
Eur J Hum Genet. 2020.
PMID: 31395947
Free PMC article.
Item in Clipboard
Cite
Cite