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Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.
Perrault I, Hanein S, Zanlonghi X, Serre V, Nicouleau M, Defoort-Delhemmes S, Delphin N, Fares-Taie L, Gerber S, Xerri O, Edelson C, Goldenberg A, Duncombe A, Le Meur G, Hamel C, Silva E, Nitschke P, Calvas P, Munnich A, Roche O, Dollfus H, Kaplan J, Rozet JM. Perrault I, et al. Among authors: duncombe a. Nat Genet. 2012 Sep;44(9):975-7. doi: 10.1038/ng.2357. Epub 2012 Jul 29. Nat Genet. 2012. PMID: 22842229
Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis.
Michot C, Le Goff C, Goldenberg A, Abhyankar A, Klein C, Kinning E, Guerrot AM, Flahaut P, Duncombe A, Baujat G, Lyonnet S, Thalassinos C, Nitschke P, Casanova JL, Le Merrer M, Munnich A, Cormier-Daire V. Michot C, et al. Among authors: duncombe a. Am J Hum Genet. 2012 Apr 6;90(4):740-5. doi: 10.1016/j.ajhg.2012.03.003. Epub 2012 Mar 29. Am J Hum Genet. 2012. PMID: 22464250 Free PMC article.
Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome.
Bourchany A, Giurgea I, Thevenon J, Goldenberg A, Morin G, Bremond-Gignac D, Paillot C, Lafontaine PO, Thouvenin D, Massy J, Duncombe A, Thauvin-Robinet C, Masurel-Paulet A, Chehadeh SE, Huet F, Bron A, Creuzot-Garcher C, Lyonnet S, Faivre L. Bourchany A, et al. Among authors: duncombe a. Am J Med Genet A. 2015 Jul;167(7):1587-92. doi: 10.1002/ajmg.a.36898. Epub 2015 Apr 21. Am J Med Genet A. 2015. PMID: 25899569
[Severe pseudouveitis associated with moxifloxacin therapy].
Duncombe A, Gueudry J, Massy N, Chapuzet C, Gueit I, Muraine M. Duncombe A, et al. J Fr Ophtalmol. 2013 Feb;36(2):146-50. doi: 10.1016/j.jfo.2012.07.002. Epub 2012 Nov 27. J Fr Ophtalmol. 2013. PMID: 23200166 French.
Artificial intelligence: friend or foe?
Duncombe A. Duncombe A. Future Healthc J. 2024 Sep 19;11(3):100184. doi: 10.1016/j.fhj.2024.100184. eCollection 2024 Sep. Future Healthc J. 2024. PMID: 39371526 Free PMC article. No abstract available.
The origin of the Future Healthcare Journal.
Duncombe A. Duncombe A. Future Healthc J. 2024 Jul 12;11(2):100151. doi: 10.1016/j.fhj.2024.100151. eCollection 2024 Jun. Future Healthc J. 2024. PMID: 39092195 Free PMC article. No abstract available.
91 results