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Results by year

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

Year Number of Results
1953 1
1984 1
1986 1
1987 1
1989 2
1990 2
1991 2
1992 3
1993 1
1994 1
1995 9
1996 5
1997 6
1998 10
1999 5
2000 7
2001 2
2002 2
2003 6
2004 7
2005 2
2006 8
2007 8
2008 8
2009 16
2010 10
2011 7
2012 9
2013 17
2014 11
2015 9
2016 14
2017 5
2018 4
2019 7
2020 14
2021 12
2022 13
2023 13

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Search Results

235 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: ribes a. Genome Med. 2022 Apr 5;14(1):38. doi: 10.1186/s13073-022-01019-9. Genome Med. 2022. PMID: 35379322 Free PMC article.
Thromboembolic events and Covid-19.
Ribes A, Vardon-Bounes F, Mémier V, Poette M, Au-Duong J, Garcia C, Minville V, Sié P, Bura-Rivière A, Voisin S, Payrastre B. Ribes A, et al. Adv Biol Regul. 2020 Aug;77:100735. doi: 10.1016/j.jbior.2020.100735. Epub 2020 Jun 17. Adv Biol Regul. 2020. PMID: 32773098 Free PMC article. Review.
Lipoic acid biosynthesis defects.
Mayr JA, Feichtinger RG, Tort F, Ribes A, Sperl W. Mayr JA, et al. Among authors: ribes a. J Inherit Metab Dis. 2014 Jul;37(4):553-63. doi: 10.1007/s10545-014-9705-8. Epub 2014 Apr 29. J Inherit Metab Dis. 2014. PMID: 24777537 Review.
Calcifediol Treatment and COVID-19-Related Outcomes.
Nogues X, Ovejero D, Pineda-Moncusí M, Bouillon R, Arenas D, Pascual J, Ribes A, Guerri-Fernandez R, Villar-Garcia J, Rial A, Gimenez-Argente C, Cos ML, Rodriguez-Morera J, Campodarve I, Quesada-Gomez JM, Garcia-Giralt N. Nogues X, et al. Among authors: ribes a. J Clin Endocrinol Metab. 2021 Sep 27;106(10):e4017-e4027. doi: 10.1210/clinem/dgab405. J Clin Endocrinol Metab. 2021. PMID: 34097036 Free PMC article.
Low-dose Btk inhibitors: an 'aspirin' of tomorrow?
Payrastre B, Ribes A. Payrastre B, et al. Among authors: ribes a. Haematologica. 2021 Jan 1;106(1):2-4. doi: 10.3324/haematol.2020.265173. Haematologica. 2021. PMID: 33386711 Free PMC article. No abstract available.
Reducing uncertainty in local temperature projections.
Qasmi S, Ribes A. Qasmi S, et al. Among authors: ribes a. Sci Adv. 2022 Oct 14;8(41):eabo6872. doi: 10.1126/sciadv.abo6872. Epub 2022 Oct 12. Sci Adv. 2022. PMID: 36223474 Free PMC article.
Differential diagnosis of lipoic acid synthesis defects.
Tort F, Ferrer-Cortes X, Ribes A. Tort F, et al. Among authors: ribes a. J Inherit Metab Dis. 2016 Nov;39(6):781-793. doi: 10.1007/s10545-016-9975-4. Epub 2016 Sep 1. J Inherit Metab Dis. 2016. PMID: 27586888 Review.
The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.
Sperl W, Fleuren L, Freisinger P, Haack TB, Ribes A, Feichtinger RG, Rodenburg RJ, Zimmermann FA, Koch J, Rivera I, Prokisch H, Smeitink JA, Mayr JA. Sperl W, et al. Among authors: ribes a. J Inherit Metab Dis. 2015 May;38(3):391-403. doi: 10.1007/s10545-014-9787-3. Epub 2014 Dec 20. J Inherit Metab Dis. 2015. PMID: 25526709 Review.
235 results