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 |
---|---|
2018 | 1 |
2021 | 1 |
2022 | 1 |
2024 | 0 |
Search Results
3 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
Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation.
Brain Sci. 2018 Aug 7;8(8):145. doi: 10.3390/brainsci8080145.
Brain Sci. 2018.
PMID: 30087272
Free PMC article.
The association of neurodevelopmental abnormalities, congenital heart and renal defects in a tuberous sclerosis complex patient cohort.
Robinson J, Uzun O, Loh NR, Harris IR, Woolley TE, Harwood AJ, Gardner JF, Syed YA.
Robinson J, et al.
BMC Med. 2022 Apr 20;20(1):123. doi: 10.1186/s12916-022-02325-0.
BMC Med. 2022.
PMID: 35440050
Free PMC article.
Item in Clipboard
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.
Muir AM, Gardner JF, van Jaarsveld RH, de Lange IM, van der Smagt JJ, Wilson GN, Dubbs H, Goldberg EM, Zitano L, Bupp C, Martinez J, Srour M, Accogli A, Alhakeem A, Meltzer M, Gropman A, Brewer C, Caswell RC, Montgomery T, McKenna C, McKee S, Powell C, Vasudevan PC, Brady AF, Joss S, Tysoe C, Noh G, Tarnopolsky M, Brady L, Zafar M, Schrier Vergano SA, Murray B, Sawyer L, Hainline BE, Sapp K, DeMarzo D, Huismann DJ, Wentzensen IM, Schnur RE, Monaghan KG, Juusola J, Rhodes L, Dobyns WB, Lecoquierre F, Goldenberg A, Polster T, Axer-Schaefer S, Platzer K, Klöckner C, Hoffman TL, MacArthur DG, O'Leary MC, VanNoy GE, England E, Varghese VC, Mefford HC.
Muir AM, et al. Among authors: gardner jf.
Genet Med. 2021 May;23(5):881-887. doi: 10.1038/s41436-020-01076-8. Epub 2021 Jan 20.
Genet Med. 2021.
PMID: 33473207
Free PMC article.
Item in Clipboard
Cite
Cite