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 |
---|---|
2017 | 1 |
2019 | 2 |
2020 | 1 |
2024 | 0 |
PubMed (cited) for id: 618571
3 results
Results by year
Filters applied: . Clear all
Page 1
Biallelic INTS1 Mutations Cause a Rare Neurodevelopmental Disorder in Two Chinese Siblings.
J Mol Neurosci. 2020 Jan;70(1):1-8. doi: 10.1007/s12031-019-01393-x. Epub 2019 Aug 19.
J Mol Neurosci. 2020.
PMID: 31428919
Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies.
Krall M, Htun S, Schnur RE, Brooks AS, Baker L, de Alba Campomanes A, Lamont RE, Gripp KW; Care 4 Rare Canada Consortium; Schneidman-Duhovny D, Innes AM, Mancini GMS, Slavotinek AM.
Krall M, et al.
Eur J Hum Genet. 2019 Apr;27(4):582-593. doi: 10.1038/s41431-018-0298-9. Epub 2019 Jan 8.
Eur J Hum Genet. 2019.
PMID: 30622326
Free PMC article.
Item in Clipboard
Human mutations in integrator complex subunits link transcriptome integrity to brain development.
Oegema R, Baillat D, Schot R, van Unen LM, Brooks A, Kia SK, Hoogeboom AJM, Xia Z, Li W, Cesaroni M, Lequin MH, van Slegtenhorst M, Dobyns WB, de Coo IFM, Verheijen FW, Kremer A, van der Spek PJ, Heijsman D, Wagner EJ, Fornerod M, Mancini GMS.
Oegema R, et al.
PLoS Genet. 2017 May 25;13(5):e1006809. doi: 10.1371/journal.pgen.1006809. eCollection 2017 May.
PLoS Genet. 2017.
PMID: 28542170
Free PMC article.
Item in Clipboard
Cite
Cite