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Clinical implementation of RNA sequencing for Mendelian disease diagnostics.
Yépez VA, Gusic M, Kopajtich R, Mertes C, Smith NH, Alston CL, Ban R, Beblo S, Berutti R, Blessing H, Ciara E, Distelmaier F, Freisinger P, Häberle J, Hayflick SJ, Hempel M, Itkis YS, Kishita Y, Klopstock T, Krylova TD, Lamperti C, Lenz D, Makowski C, Mosegaard S, Müller MF, Muñoz-Pujol G, Nadel A, Ohtake A, Okazaki Y, Procopio E, Schwarzmayr T, Smet J, Staufner C, Stenton SL, Strom TM, Terrile C, Tort F, Van Coster R, Vanlander A, Wagner M, Xu M, Fang F, Ghezzi D, Mayr JA, Piekutowska-Abramczuk D, Ribes A, Rötig A, Taylor RW, Wortmann SB, Murayama K, Meitinger T, Gagneur J, Prokisch H. Yépez VA, et al. Among authors: nadel a. Genome Med. 2022 Apr 5;14(1):38. doi: 10.1186/s13073-022-01019-9. Genome Med. 2022. PMID: 35379322 Free PMC article.
Independence of Ocular Biomarkers of Cardiac Risk in Macular Degeneration.
Drakopoulos M, Zhang KX, Zhang DL, Nadel A, Bains HK, Marchese A, Mirza RG. Drakopoulos M, et al. Among authors: nadel a. Ophthalmol Retina. 2024 Mar;8(3):309-311. doi: 10.1016/j.oret.2023.11.003. Epub 2023 Nov 21. Ophthalmol Retina. 2024. PMID: 37981234 No abstract available.
Ready or not, genomic screening of fetuses is already here.
Gold NB, Nadel A, Green RC. Gold NB, et al. Among authors: nadel a. Genet Med. 2024 Jan;26(1):101008. doi: 10.1016/j.gim.2023.101008. Epub 2023 Oct 17. Genet Med. 2024. PMID: 37860970 No abstract available.
95 results