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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
2023 8
2024 3

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188 results

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Page 1
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.
[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.
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.
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.
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: palau f. 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.
Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlations.
Casas-Alba D, Martínez-Monseny A, Pino-Ramírez RM, Alsina L, Castejón E, Navarro-Vilarrubí S, Pérez-Dueñas B, Serrano M, Palau F, García-Alix A. Casas-Alba D, et al. Among authors: palau f. Hum Mutat. 2018 Dec;39(12):1752-1763. doi: 10.1002/humu.23638. Epub 2018 Sep 17. Hum Mutat. 2018. PMID: 30176098 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.
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.
188 results