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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 15
2024 4

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240 results

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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.
Leigh syndrome is the main clinical characteristic of PTCD3 deficiency.
Muñoz-Pujol G, Ortigoza-Escobar JD, Paredes-Fuentes AJ, Jou C, Ugarteburu O, Gort L, Yubero D, García-Cazorla A, O'Callaghan M, Campistol J, Muchart J, Yépez VA, Gusic M, Gagneur J, Prokisch H, Artuch R, Ribes A, Urreizti R, Tort F. Muñoz-Pujol G, et al. Among authors: ribes a. Brain Pathol. 2023 May;33(3):e13134. doi: 10.1111/bpa.13134. Epub 2022 Nov 30. Brain Pathol. 2023. PMID: 36450274 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.
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.
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.
Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch R, Gallano P, Garrabou G, González JR, Grinberg D, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez-Jurado LA, Beltran S; Undiagnosed Rare Disease Program of Catalonia (URD-Cat) Consortium. Bullich G, et al. Among authors: ribes a. J Mol Diagn. 2022 May;24(5):529-542. doi: 10.1016/j.jmoldx.2022.02.003. J Mol Diagn. 2022. PMID: 35569879 Free article.
Exploring genotype-phenotype correlations in glutaric aciduria type 1.
Schuurmans IME, Dimitrov B, Schröter J, Ribes A, de la Fuente RP, Zamora B, van Karnebeek CDM, Kölker S, Garanto A. Schuurmans IME, et al. Among authors: ribes a. J Inherit Metab Dis. 2023 May;46(3):371-390. doi: 10.1002/jimd.12608. Epub 2023 Apr 16. J Inherit Metab Dis. 2023. PMID: 37020324
240 results