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

Year Number of Results
1951 1
1985 1
1989 1
1990 2
1991 7
1993 4
1995 9
1996 5
1997 7
1998 4
1999 6
2000 6
2001 5
2002 3
2003 4
2004 2
2005 6
2006 6
2007 6
2008 5
2009 9
2010 8
2011 6
2012 7
2013 8
2014 8
2015 8
2016 5
2017 6
2018 9
2019 7
2020 8
2021 13
2022 8
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179 results
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Page 1
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.
Campuzano V, Montermini L, Moltò MD, Pianese L, Cossée M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, Zara F, Cañizares J, Koutnikova H, Bidichandani SI, Gellera C, Brice A, Trouillas P, De Michele G, Filla A, De Frutos R, Palau F, Patel PI, Di Donato S, Mandel JL, Cocozza S, Koenig M, Pandolfo M. Campuzano V, et al. Among authors: palau f. Science. 1996 Mar 8;271(5254):1423-7. doi: 10.1126/science.271.5254.1423. Science. 1996. PMID: 8596916
Ethical questions concerning newborn genetic screening.
Esquerda M, Palau F, Lorenzo D, Cambra FJ, Bofarull M, Cusi V, Interdisciplinar En Bioetica G. Esquerda M, et al. Among authors: palau f. Clin Genet. 2021 Jan;99(1):93-98. doi: 10.1111/cge.13828. Epub 2020 Sep 2. Clin Genet. 2021. PMID: 32779199 Review.
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network, Lapunzina P. Luque J, et al. Among authors: palau f. Clin Genet. 2022 May;101(5-6):481-493. doi: 10.1111/cge.14113. Epub 2022 Feb 4. Clin Genet. 2022. PMID: 35060122 Free PMC article. Review.
[The human genome and medicine].
Palau F, García-Alix A. Palau F, et al. An Pediatr (Engl Ed). 2018 Jul;89(1):1-2. doi: 10.1016/j.anpedi.2018.04.009. Epub 2018 May 10. An Pediatr (Engl Ed). 2018. PMID: 29753559 Free article. Spanish. No abstract available.
[Participant-funded clinical trials on rare diseases].
Dal-Ré R, Palau F, Guillén-Navarro E, Ayuso C. Dal-Ré R, et al. Among authors: palau f. An Pediatr (Engl Ed). 2020 Oct;93(4):267.e1-267.e9. doi: 10.1016/j.anpedi.2020.03.019. Epub 2020 Jun 1. An Pediatr (Engl Ed). 2020. PMID: 32499195 Free article. Spanish.
Molecular diagnosis of coenzyme Q10 deficiency.
Yubero D, Montero R, Armstrong J, Espinós C, Palau F, Santos-Ocaña C, Salviati L, Navas P, Artuch R. Yubero D, et al. Among authors: palau f. Expert Rev Mol Diagn. 2015;15(8):1049-59. doi: 10.1586/14737159.2015.1062727. Epub 2015 Jul 4. Expert Rev Mol Diagn. 2015. PMID: 26144946 Review.
Participant-funded clinical trials on rare diseases.
Dal-Ré R, Palau F, Guillén-Navarro E, Ayuso C. Dal-Ré R, et al. Among authors: palau f. An Pediatr (Engl Ed). 2020 Oct;93(4):267.e1-267.e9. doi: 10.1016/j.anpede.2020.03.005. Epub 2020 Oct 10. An Pediatr (Engl Ed). 2020. PMID: 34092344 Free article.
Autosomal recessive cerebellar ataxias.
Palau F, Espinós C. Palau F, et al. Orphanet J Rare Dis. 2006 Nov 17;1:47. doi: 10.1186/1750-1172-1-47. Orphanet J Rare Dis. 2006. PMID: 17112370 Free PMC article. Review.
Mitochondrial pathophysiology in Friedreich's ataxia.
González-Cabo P, Palau F. González-Cabo P, et al. Among authors: palau f. J Neurochem. 2013 Aug;126 Suppl 1:53-64. doi: 10.1111/jnc.12303. J Neurochem. 2013. PMID: 23859341 Free article. Review.
179 results