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 |
---|---|
2000 | 1 |
2005 | 1 |
2016 | 1 |
2021 | 1 |
2022 | 1 |
2024 | 0 |
PubMed for id: 430768618
5 results
Results by year
Filters applied: . Clear all
Page 1
Destabilization of mutated human PUS3 protein causes intellectual disability.
Hum Mutat. 2022 Dec;43(12):2063-2078. doi: 10.1002/humu.24471. Epub 2022 Oct 2.
Hum Mutat. 2022.
PMID: 36125428
Free PMC article.
Clinical and molecular delineation of PUS3-associated neurodevelopmental disorders.
Nøstvik M, Kateta SM, Schönewolf-Greulich B, Afenjar A, Barth M, Boschann F, Doummar D, Haack TB, Keren B, Livshits LA, Mei D, Park J, Pisano T, Prouteau C, Umair M, Waqas A, Ziegler A, Guerrini R, Møller RS, Tümer Z.
Nøstvik M, et al.
Clin Genet. 2021 Nov;100(5):628-633. doi: 10.1111/cge.14051. Epub 2021 Aug 31.
Clin Genet. 2021.
PMID: 34415064
Item in Clipboard
A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition.
Shaheen R, Han L, Faqeih E, Ewida N, Alobeid E, Phizicky EM, Alkuraya FS.
Shaheen R, et al.
Hum Genet. 2016 Jul;135(7):707-13. doi: 10.1007/s00439-016-1665-7. Epub 2016 Apr 7.
Hum Genet. 2016.
PMID: 27055666
Free PMC article.
Item in Clipboard
Transcriptome analysis of human gastric cancer.
Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS, Noh SM, Kim S, Yoo HS, Kim YS, Kim NS.
Oh JH, et al.
Mamm Genome. 2005 Dec;16(12):942-54. doi: 10.1007/s00335-005-0075-2. Epub 2005 Dec 8.
Mamm Genome. 2005.
PMID: 16341674
Item in Clipboard
Pseudouridine synthase 3 from mouse modifies the anticodon loop of tRNA.
Chen J, Patton JR.
Chen J, et al.
Biochemistry. 2000 Oct 17;39(41):12723-30. doi: 10.1021/bi001109m.
Biochemistry. 2000.
PMID: 11027153
Item in Clipboard
Cite
Cite