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

Year Number of Results
2004 1
2005 1
2006 1
2007 2
2008 3
2009 3
2010 2
2011 2
2012 4
2013 6
2014 4
2015 5
2016 7
2018 2
2019 2
2020 9
2021 5
2022 5
2023 6
2024 3

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62 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.
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. 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.
CRISPR/Cas9-based functional genomics strategy to decipher the pathogenicity of genetic variants in inherited metabolic disorders.
Muñoz-Pujol G, Ugarteburu O, Segur-Bailach E, Moliner S, Jurado S, Garrabou G, Guitart-Mampel M, García-Villoria J, Artuch R, Fons C, Ribes A, Tort F. Muñoz-Pujol G, et al. Among authors: garcia villoria j. J Inherit Metab Dis. 2023 Nov;46(6):1029-1042. doi: 10.1002/jimd.12681. Epub 2023 Oct 3. J Inherit Metab Dis. 2023. PMID: 37718653
Neonatal Screening for Inherited Metabolic Diseases in 2016.
Villoria JG, Pajares S, López RM, Marin JL, Ribes A. Villoria JG, et al. Semin Pediatr Neurol. 2016 Nov;23(4):257-272. doi: 10.1016/j.spen.2016.11.001. Epub 2016 Nov 16. Semin Pediatr Neurol. 2016. PMID: 28284388 Review.
Lysinuric Protein Intolerance and Its Nutritional and Multisystemic Challenges in Pregnancy: A Case Report and Literature Review.
Pané A, Milad C, Santana-Domínguez M, Baños N, Borras-Novell C, Espinosa G, Magnano L, Nomdedeu M, Moreno-Lozano PJ, Cofan F, Placeres M, Fernández RM, García-Villoria J, Garrabou G, Vinagre I, Tanner LM, Montserrat-Carbonell C, Forga-Visa MT. Pané A, et al. Among authors: garcia villoria j. J Clin Med. 2023 Oct 8;12(19):6405. doi: 10.3390/jcm12196405. J Clin Med. 2023. PMID: 37835050 Free PMC article. Review.
Cystinosis in adult and adolescent patients: Recommendations for the comprehensive care of cystinosis.
Ariceta G, Camacho JA, Fernández-Obispo M, Fernández-Polo A, Gamez J, García-Villoria J, Lara Monteczuma E, Leyes P, Martín-Begué N, Oppenheimer F, Perelló M, Morell GP, Torra R, Santandreu AV, Güell A; Grupo T-CiS.bcn. Ariceta G, et al. Among authors: garcia villoria j. Nefrologia. 2015;35(3):304-21. doi: 10.1016/j.nefroe.2015.06.010. Nefrologia. 2015. PMID: 26523297 Free article. English, Spanish.
Newborn Screening for SCID. Experience in Spain (Catalonia).
Argudo-Ramírez A, Martín-Nalda A, González de Aledo-Castillo JM, López-Galera R, Marín-Soria JL, Pajares-García S, Martínez-Gallo M, García-Prat M, Colobran R, Riviere JG, Quintero Y, Collado T, Ribes A, García-Villoria J, Soler-Palacín P. Argudo-Ramírez A, et al. Among authors: garcia villoria j. Int J Neonatal Screen. 2021 Jul 20;7(3):46. doi: 10.3390/ijns7030046. Int J Neonatal Screen. 2021. PMID: 34294672 Free PMC article.
Inter-rater reliability assessment for the new-born screening quality assurance.
Guiñón L, Soler A, López RM, Pajares S, de Aledo JMG, Argudo-Ramírez A, Marín JL, García-Villoria J, Sahuquillo Á, Alvarez L. Guiñón L, et al. Among authors: garcia villoria j. Biochem Med (Zagreb). 2022 Oct 1;32(3):030901. doi: 10.11613/BM.2022.030901. Epub 2022 Aug 5. Biochem Med (Zagreb). 2022. PMID: 35966259 Free PMC article.
Technical Aspects of Coenzyme Q10 Analysis: Validation of a New HPLC-ED Method.
Paredes-Fuentes AJ, Oliva C, Montero R, Alcaide P, Ruijter GJG, García-Villoria J, Ruiz-Sala P, Artuch R. Paredes-Fuentes AJ, et al. Among authors: garcia villoria j. Antioxidants (Basel). 2022 Mar 10;11(3):528. doi: 10.3390/antiox11030528. Antioxidants (Basel). 2022. PMID: 35326178 Free PMC article.
62 results