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 |
---|---|
2019 | 1 |
2023 | 2 |
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
The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands.
Brain. 2023 Feb 13;146(2):455-460. doi: 10.1093/brain/awac395.
Brain. 2023.
PMID: 36317462
Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination.
Masson J, Pebrel-Richard C, Egloff M, Frétigny M, Beaumont M, Uguen K, Rollat-Farnier PA, Diguet F, Perthus I, Le Gudayer G, Haye D, Dupeyron MB, Putoux A, Raskin-Champion F, Till M, Chatron N, Doray B, Bardel C, Vinciguerra C, Sanlaville D, Schluth-Bolard C.
Masson J, et al.
Clin Genet. 2023 Apr;103(4):401-412. doi: 10.1111/cge.14291. Epub 2023 Jan 19.
Clin Genet. 2023.
PMID: 36576162
Item in Clipboard
Clinical and genetic characterization of individuals with predicted deleterious PHIP variants.
Craddock KE, Okur V, Wilson A, Gerkes EH, Ramsey K, Heeley JM, Juusola J, Vitobello A, Dupeyron MB, Faivre L, Chung WK.
Craddock KE, et al.
Cold Spring Harb Mol Case Stud. 2019 Aug 1;5(4):a004200. doi: 10.1101/mcs.a004200. Print 2019 Aug.
Cold Spring Harb Mol Case Stud. 2019.
PMID: 31167805
Free PMC article.
Item in Clipboard
Cite
Cite