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

Year Number of Results
1998 2
1999 3
2000 7
2001 3
2002 2
2003 2
2005 2
2006 3
2007 2
2008 4
2009 1
2012 2
2013 2
2014 2
2016 1
2017 1
2021 6
2022 1
2023 1
2025 1
2026 0

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46 results

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Page 1
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. 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.
Long-Read Whole-Genome Sequencing as a Tool for Variant Detection in Inherited Retinal Dystrophies.
Rodilla C, Núñez-Moreno G, Benitez Y, Rodríguez de Alba M, Blanco-Kelly F, López-Alcojor A, Fernández-Caballero L, Perea-Romero I, Del Pozo-Valero M, García-García G, Balanzá M, Villaverde C, Zurita O, Jubin C, Fund C, Delepine M, Leduc A, Deleuze JF, Millán JM, Minguez P, Corton M, Ayuso C. Rodilla C, et al. Among authors: rodriguez de alba m. Int J Mol Sci. 2025 Apr 18;26(8):3825. doi: 10.3390/ijms26083825. Int J Mol Sci. 2025. PMID: 40332496 Free PMC article.
Noninvasive prenatal diagnosis of monogenic disorders.
Rodríguez de Alba M, Bustamante-Aragonés A, Perlado S, Trujillo-Tiebas MJ, Díaz-Recasens J, Plaza-Arranz J, Ramos C. Rodríguez de Alba M, et al. Expert Opin Biol Ther. 2012 Jun;12 Suppl 1:S171-9. doi: 10.1517/14712598.2012.674509. Epub 2012 Apr 16. Expert Opin Biol Ther. 2012. PMID: 22507053 Review.
Biallelic intragenic tandem duplication of CPLANE1 in Joubert syndrome: A case report.
Martínez-Granero F, Martínez-Cayuelas E, Rodilla C, Núñez-Moreno G, Rodríguez de Alba M, Blanco-Kelly F, Romero R, Minguez P, Ayuso C, Lorda-Sanchez I, Corton M, Almoguera B. Martínez-Granero F, et al. Among authors: rodriguez de alba m. Clin Genet. 2023 Apr;103(4):448-452. doi: 10.1111/cge.14306. Epub 2023 Feb 8. Clin Genet. 2023. PMID: 36719180
Could a patient with SMC1A duplication be classified as a human cohesinopathy?
Baquero-Montoya C, Gil-Rodríguez MC, Teresa-Rodrigo ME, Hernández-Marcos M, Bueno-Lozano G, Bueno-Martínez I, Remeseiro S, Fernández-Hernández R, Bassecourt-Serra M, Rodríguez de Alba M, Queralt E, Losada A, Puisac B, Ramos FJ, Pié J. Baquero-Montoya C, et al. Among authors: rodriguez de alba m. Clin Genet. 2014 May;85(5):446-51. doi: 10.1111/cge.12194. Epub 2013 Jun 17. Clin Genet. 2014. PMID: 23683030
Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations and Genotype-Phenotype Correlation.
Sanchez-Jimeno C, Blanco-Kelly F, López-Grondona F, Losada-Del Pozo R, Moreno B, Rodrigo-Moreno M, Martinez-Cayuelas E, Riveiro-Alvarez R, Fenollar-Cortés M, Ayuso C, Rodríguez de Alba M, Lorda-Sanchez I, Almoguera B. Sanchez-Jimeno C, et al. Among authors: rodriguez de alba m. Genes (Basel). 2021 Aug 30;12(9):1360. doi: 10.3390/genes12091360. Genes (Basel). 2021. PMID: 34573342 Free PMC article. Review.
Improvement in strategies for the non-invasive prenatal diagnosis of Huntington disease.
González-González MC, Garcia-Hoyos M, Trujillo-Tiebas MJ, Bustamante Aragonés A, Rodriguez de Alba M, Diego Alvarez D, Diaz-Recasens J, Ayuso C, Ramos C. González-González MC, et al. Among authors: rodriguez de alba m. J Assist Reprod Genet. 2008 Sep-Oct;25(9-10):477-81. doi: 10.1007/s10815-008-9256-8. Epub 2008 Oct 14. J Assist Reprod Genet. 2008. PMID: 18853247 Free PMC article.
46 results