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 |
---|---|
2021 | 1 |
2022 | 2 |
2023 | 2 |
2024 | 0 |
Search Results
4 results
Results by year
Filters applied: . Clear all
Page 1
The safety and efficacy of gene therapy treatment for monogenic retinal and optic nerve diseases: A systematic review.
Genet Med. 2022 Mar;24(3):521-534. doi: 10.1016/j.gim.2021.10.013. Epub 2021 Nov 30.
Genet Med. 2022.
PMID: 34906485
Free article.
Review.
Neurological manifestations in mevalonate kinase deficiency: A systematic review.
Elhani I, Hentgen V, Grateau G, Georgin-Lavialle S.
Elhani I, et al.
Mol Genet Metab. 2022 Jun;136(2):85-93. doi: 10.1016/j.ymgme.2022.04.006. Epub 2022 Apr 30.
Mol Genet Metab. 2022.
PMID: 35525811
Review.
Serious involvements including ataxia and developmental delay were described less than 1% of patients but 22-31% of case reports. They consistently appeared in the first years of life. Retinal dystrophy was frequently reported (31%) in case reports. Other manifestat …
Serious involvements including ataxia and developmental delay were described less than 1% of patients but 22-31% of case reports. They consi …
Item in Clipboard
Comparing Gene Panels for Non-Retinal Indications: A Systematic Review.
Procopio R, Pulido JS, Gunton KB, Syed ZA, Lee D, Moster ML, Sergott R, Neidich JA, Reynolds MM.
Procopio R, et al.
Genes (Basel). 2023 Mar 17;14(3):738. doi: 10.3390/genes14030738.
Genes (Basel). 2023.
PMID: 36981008
Free PMC article.
Item in Clipboard
Clinical and Genetic Features of NR2E3-Associated Retinopathy: A Report of Eight Families with a Longitudinal Study and Literature Review.
Xiao S, Yi Z, Xiao X, Li S, Jia X, Lian P, Sun W, Wang P, Lu L, Zhang Q.
Xiao S, et al.
Genes (Basel). 2023 Jul 26;14(8):1525. doi: 10.3390/genes14081525.
Genes (Basel). 2023.
PMID: 37628579
Free PMC article.
Item in Clipboard
Cite
Cite