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2010 1
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Page 1
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.
Bonnet C, Riahi Z, Chantot-Bastaraud S, Smagghe L, Letexier M, Marcaillou C, Lefèvre GM, Hardelin JP, El-Amraoui A, Singh-Estivalet A, Mohand-Saïd S, Kohl S, Kurtenbach A, Sliesoraityte I, Zobor D, Gherbi S, Testa F, Simonelli F, Banfi S, Fakin A, Glavač D, Jarc-Vidmar M, Zupan A, Battelino S, Martorell Sampol L, Claveria MA, Catala Mora J, Dad S, Møller LB, Rodriguez Jorge J, Hawlina M, Auricchio A, Sahel JA, Marlin S, Zrenner E, Audo I, Petit C. Bonnet C, et al. Among authors: zupan a. Eur J Hum Genet. 2016 Dec;24(12):1730-1738. doi: 10.1038/ejhg.2016.99. Epub 2016 Jul 27. Eur J Hum Genet. 2016. PMID: 27460420 Free PMC article.
A novel PTPRZ1-ETV1 fusion in gliomas.
Matjašič A, Zupan A, Boštjančič E, Pižem J, Popović M, Kolenc D. Matjašič A, et al. Among authors: zupan a. Brain Pathol. 2020 Mar;30(2):226-234. doi: 10.1111/bpa.12776. Epub 2019 Aug 27. Brain Pathol. 2020. PMID: 31381204 Free PMC article.
Double Hyperautofluorescent Rings in Patients with USH2A-Retinopathy.
Fakin A, Šuštar M, Brecelj J, Bonnet C, Petit C, Zupan A, Glavač D, Jarc-Vidmar M, Battelino S, Hawlina M. Fakin A, et al. Among authors: zupan a. Genes (Basel). 2019 Nov 21;10(12):956. doi: 10.3390/genes10120956. Genes (Basel). 2019. PMID: 31766479 Free PMC article.
22 results