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 | 1 |
2021 | 1 |
2022 | 1 |
2023 | 2 |
2024 | 0 |
Search Results
4 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
SOX10: 20 years of phenotypic plurality and current understanding of its developmental function.
J Med Genet. 2022 Feb;59(2):105-114. doi: 10.1136/jmedgenet-2021-108105. Epub 2021 Oct 19.
J Med Genet. 2022.
PMID: 34667088
Free PMC article.
Review.
A 22q13.1 duplication in mosaicism including SOX10.
Bertani-Torres W, Serey-Gaut M, de Oliveira J, Bole C, Parisot M, Nistschké P, Maurin ML, Lapierre JM, Loundon N, Belhous K, Bondurand N, Marlin S, Pingault V.
Bertani-Torres W, et al.
Am J Med Genet A. 2023 Dec;191(12):2813-2818. doi: 10.1002/ajmg.a.63362. Epub 2023 Aug 2.
Am J Med Genet A. 2023.
PMID: 37533297
Item in Clipboard
Generation of an iPSC line (IMAGINi022-A) from a patient carrying a SOX10 missense mutation and presenting with deafness, depigmentation and progressive neurological impairment.
Banal C, Quelennec E, Bertani-Torres W, Gacem N, Amiel J, Marlin S, Petit F, Pingault V, Lefort N, Bondurand N.
Banal C, et al. Among authors: bertani torres w.
Stem Cell Res. 2020 Oct;48:101936. doi: 10.1016/j.scr.2020.101936. Epub 2020 Aug 2.
Stem Cell Res. 2020.
PMID: 32795927
Free article.
Item in Clipboard
Waardenburg Syndrome: The Contribution of Next-Generation Sequencing to the Identification of Novel Causative Variants.
Bertani-Torres W, Lezirovitz K, Alencar-Coutinho D, Pardono E, da Costa SS, Antunes LDN, de Oliveira J, Otto PA, Pingault V, Mingroni-Netto RC.
Bertani-Torres W, et al.
Audiol Res. 2023 Dec 21;14(1):9-25. doi: 10.3390/audiolres14010002.
Audiol Res. 2023.
PMID: 38391765
Free PMC article.
Item in Clipboard
Cite
Cite