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 |
---|---|
2020 | 3 |
2021 | 1 |
2023 | 1 |
2024 | 0 |
Search Results
4 results
Results by year
Filters applied: . Clear all
Page 1
Adult-onset very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD).
Eur J Neurol. 2020 Nov;27(11):2257-2266. doi: 10.1111/ene.14402. Epub 2020 Jul 24.
Eur J Neurol. 2020.
PMID: 32558070
Free PMC article.
The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort.
Siggs OM, Awadalla MS, Souzeau E, Staffieri SE, Kearns LS, Laurie K, Kuot A, Qassim A, Edwards TL, Coote MA, Mancel E, Walland MJ, Dondey J, Galanopoulous A, Casson RJ, Mills RA, MacArthur DG, Ruddle JB, Burdon KP, Craig JE.
Siggs OM, et al.
Clin Genet. 2020 May;97(5):764-769. doi: 10.1111/cge.13722. Epub 2020 Mar 5.
Clin Genet. 2020.
PMID: 32052405
Free PMC article.
Item in Clipboard
Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis.
D'Gama AM, England E, Madden JA, Shi J, Chao KR, Wojcik MH, Torres AR, Tan WH, Berry GT, Prabhu SP, Agrawal PB.
D'Gama AM, et al.
Am J Med Genet A. 2021 Jan;185(1):203-207. doi: 10.1002/ajmg.a.61910. Epub 2020 Oct 9.
Am J Med Genet A. 2021.
PMID: 33037779
Free PMC article.
Item in Clipboard
A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function.
Hentschel A, Meyer N, Kohlschmidt N, Groß C, Sickmann A, Schara-Schmidt U, Förster F, Töpf A, Christiansen J, Horvath R, Vorgerd M, Thompson R, Polavarapu K, Lochmüller H, Preusse C, Hannappel L, Schänzer A, Grüneboom A, Gangfuß A, Roos A.
Hentschel A, et al.
Mol Neurobiol. 2023 May;60(5):2602-2618. doi: 10.1007/s12035-023-03219-9. Epub 2023 Jan 24.
Mol Neurobiol. 2023.
PMID: 36692708
Free PMC article.
Item in Clipboard
Cite
Cite