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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1972 2
1973 2
1974 3
1975 4
1977 1
1978 1
1999 1
2004 2
2005 2
2006 4
2007 2
2008 6
2009 3
2010 3
2011 3
2012 11
2013 10
2014 11
2015 16
2016 14
2017 9
2018 19
2019 14
2020 10
2021 22
2022 13
2023 17
2024 6

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Search Results

196 results

Results by year

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Page 1
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: ghezzi d. Genome Med. 2022 Apr 5;14(1):38. doi: 10.1186/s13073-022-01019-9. Genome Med. 2022. PMID: 35379322 Free PMC article.
Editorial: Nanomaterials for Communicating With the Brain.
Tong W, Ibboston MR, Ghezzi D. Tong W, et al. Among authors: ghezzi d. Front Neurosci. 2022 May 2;16:918949. doi: 10.3389/fnins.2022.918949. eCollection 2022. Front Neurosci. 2022. PMID: 35585916 Free PMC article. No abstract available.
Expanding the Spectrum of NUBPL-Related Leukodystrophy.
Tonduti D, Zambon AA, Ghezzi D, Lamantea E, Izzo R, Parazzini C, Baldoli C, van der Knaap MS, Fumagalli F. Tonduti D, et al. Among authors: ghezzi d. Neuropediatrics. 2023 Jun;54(3):161-166. doi: 10.1055/s-0043-1764214. Epub 2023 Mar 3. Neuropediatrics. 2023. PMID: 36868263 Review.
Infantile mitochondrial encephalopathy.
Uziel G, Ghezzi D, Zeviani M. Uziel G, et al. Among authors: ghezzi d. Semin Fetal Neonatal Med. 2011 Aug;16(4):205-15. doi: 10.1016/j.siny.2011.04.003. Epub 2011 May 26. Semin Fetal Neonatal Med. 2011. PMID: 21620787 Review.
Editorial: Neuromodulation and neural technologies for sight restoration.
Im M, Zeck GM, Chan LLH, Ghezzi D, Fried SI. Im M, et al. Among authors: ghezzi d. Front Cell Neurosci. 2023 Oct 17;17:1304872. doi: 10.3389/fncel.2023.1304872. eCollection 2023. Front Cell Neurosci. 2023. PMID: 37915374 Free PMC article. No abstract available.
Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.
Stenton SL, Sheremet NL, Catarino CB, Andreeva NA, Assouline Z, Barboni P, Barel O, Berutti R, Bychkov I, Caporali L, Capristo M, Carbonelli M, Cascavilla ML, Charbel Issa P, Freisinger P, Gerber S, Ghezzi D, Graf E, Heidler J, Hempel M, Heon E, Itkis YS, Javasky E, Kaplan J, Kopajtich R, Kornblum C, Kovacs-Nagy R, Krylova TD, Kunz WS, La Morgia C, Lamperti C, Ludwig C, Malacarne PF, Maresca A, Mayr JA, Meisterknecht J, Nevinitsyna TA, Palombo F, Pode-Shakked B, Shmelkova MS, Strom TM, Tagliavini F, Tzadok M, van der Ven AT, Vignal-Clermont C, Wagner M, Zakharova EY, Zhorzholadze NV, Rozet JM, Carelli V, Tsygankova PG, Klopstock T, Wittig I, Prokisch H. Stenton SL, et al. Among authors: ghezzi d. J Clin Invest. 2021 Mar 15;131(6):e138267. doi: 10.1172/JCI138267. J Clin Invest. 2021. PMID: 33465056 Free PMC article.
Role of PITRM1 in Mitochondrial Dysfunction and Neurodegeneration.
Brunetti D, Catania A, Viscomi C, Deleidi M, Bindoff LA, Ghezzi D, Zeviani M. Brunetti D, et al. Among authors: ghezzi d. Biomedicines. 2021 Jul 17;9(7):833. doi: 10.3390/biomedicines9070833. Biomedicines. 2021. PMID: 34356897 Free PMC article. Review.
196 results