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 |
---|---|
2022 | 1 |
2023 | 1 |
2024 | 1 |
Search Results
2 results
Results by year
Filters applied: . Clear all
It looks like you are searching for an author.
Results are currently sorted by Best Match. To see the newest results first,
change the sort order to Most Recent.
Page 1
Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities.
Genet Med. 2023 Feb;25(2):100332. doi: 10.1016/j.gim.2022.11.001. Epub 2022 Dec 15.
Genet Med. 2023.
PMID: 36520152
Free PMC article.
Leigh syndrome with developmental regression and ataxia due to a novel splicing variant in the PMPCB gene.
Matthews E, Whittle EF, Khan F, McEntagart M, Carroll CJ.
Matthews E, et al. Among authors: whittle ef.
J Hum Genet. 2024 Feb 19. doi: 10.1038/s10038-024-01226-9. Online ahead of print.
J Hum Genet. 2024.
PMID: 38374165
Item in Clipboard
Cite
Cite