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

Year Number of Results
2005 1
2006 2
2009 1
2010 2
2011 2
2012 1
2013 3
2014 2
2016 2
2017 3
2018 2
2019 5
2020 1
2021 3
2022 2
2024 1

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30 results

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Page 1
Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.
Martín-Rivada Á, Palomino Pérez L, Ruiz-Sala P, Navarrete R, Cambra Conejero A, Quijada Fraile P, Moráis López A, Belanger-Quintana A, Martín-Hernández E, Bellusci M, Cañedo Villaroya E, Chumillas Calzada S, García Silva MT, Bergua Martínez A, Stanescu S, Martínez-Pardo Casanova M, Ruano MLF, Ugarte M, Pérez B, Pedrón-Giner C. Martín-Rivada Á, et al. Among authors: navarrete r. JIMD Rep. 2022 Jan 27;63(2):146-161. doi: 10.1002/jmd2.12265. eCollection 2022 Mar. JIMD Rep. 2022. PMID: 35281663 Free PMC article.
Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism.
Soriano-Sexto A, Gallego D, Leal F, Castejón-Fernández N, Navarrete R, Alcaide P, Couce ML, Martín-Hernández E, Quijada-Fraile P, Peña-Quintana L, Yahyaoui R, Correcher P, Ugarte M, Rodríguez-Pombo P, Pérez B. Soriano-Sexto A, et al. Among authors: navarrete r. Int J Mol Sci. 2022 Oct 25;23(21):12850. doi: 10.3390/ijms232112850. Int J Mol Sci. 2022. PMID: 36361642 Free PMC article.
Impact of COVID-19 Lockdown in Eating Disorders: A Multicentre Collaborative International Study.
Baenas I, Etxandi M, Munguía L, Granero R, Mestre-Bach G, Sánchez I, Ortega E, Andreu A, Moize VL, Fernández-Real JM, Tinahones FJ, Diéguez C, Frühbeck G, Le Grange D, Tchanturia K, Karwautz A, Zeiler M, Imgart H, Zanko A, Favaro A, Claes L, Shekriladze I, Serrano-Troncoso E, Cecilia-Costa R, Rangil T, Loran-Meler ME, Soriano-Pacheco J, Carceller-Sindreu M, Navarrete R, Lozano M, Linares R, Gudiol C, Carratala J, Plana MT, Graell M, González-Parra D, Gómez-Del Barrio JA, Sepúlveda AR, Sánchez-González J, Machado PPP, Håkansson A, Túry F, Pászthy B, Stein D, Papezová H, Gricova J, Bax B, Borisenkov MF, Popov SV, Gubin DG, Petrov IM, Isakova D, Mustafina SV, Kim YR, Nakazato M, Godart N, van Voren R, Ilnytska T, Chen J, Rowlands K, Voderholzer U, Monteleone AM, Treasure J, Jiménez-Murcia S, Fernández-Aranda F. Baenas I, et al. Among authors: navarrete r. Nutrients. 2021 Dec 27;14(1):100. doi: 10.3390/nu14010100. Nutrients. 2021. PMID: 35010974 Free PMC article.
Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia.
Gallego D, Leal F, Gámez A, Castro M, Navarrete R, Sanchez-Lijarcio O, Vitoria I, Bueno-Delgado M, Belanger-Quintana A, Morais A, Pedrón-Giner C, García I, Campistol J, Artuch R, Alcaide C, Cornejo V, Gil D, Yahyaoui R, Desviat LR, Ugarte M, Martínez A, Pérez B. Gallego D, et al. Among authors: navarrete r. Hum Mutat. 2020 Jul;41(7):1329-1338. doi: 10.1002/humu.24026. Epub 2020 Apr 30. Hum Mutat. 2020. PMID: 32333439 Free article.
Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain.
Medrano C, Vega A, Navarrete R, Ecay MJ, Calvo R, Pascual SI, Ruiz-Pons M, Toledo L, García-Jiménez I, Arroyo I, Campo A, Couce ML, Domingo-Jiménez MR, García-Silva MT, González-Gutiérrez-Solana L, Hierro L, Martín-Hernández E, Martínez-Pardo M, Roldán S, Tomás M, Cabrera JC, Mártinez-Bugallo F, Martín-Viota L, Vitoria-Miñana I, Lefeber DJ, Girós ML, Serrano Gimare M, Ugarte M, Pérez B, Pérez-Cerdá C. Medrano C, et al. Among authors: navarrete r. Clin Genet. 2019 May;95(5):615-626. doi: 10.1111/cge.13508. Epub 2019 Apr 3. Clin Genet. 2019. PMID: 30653653
Efficient processing of complex XSD using Hive and Spark.
Martinez-Mosquera D, Navarrete R, Luján-Mora S. Martinez-Mosquera D, et al. Among authors: navarrete r. PeerJ Comput Sci. 2021 Aug 17;7:e652. doi: 10.7717/peerj-cs.652. eCollection 2021. PeerJ Comput Sci. 2021. PMID: 34497870 Free PMC article.
New splicing mutations in propionic acidemia.
Desviat LR, Clavero S, Perez-Cerdá C, Navarrete R, Ugarte M, Perez B. Desviat LR, et al. Among authors: navarrete r. J Hum Genet. 2006;51(11):992-997. doi: 10.1007/s10038-006-0068-3. Epub 2006 Oct 19. J Hum Genet. 2006. PMID: 17051315
Genes and Variants Underlying Human Congenital Lactic Acidosis-From Genetics to Personalized Treatment.
Bravo-Alonso I, Navarrete R, Vega AI, Ruíz-Sala P, García Silva MT, Martín-Hernández E, Quijada-Fraile P, Belanger-Quintana A, Stanescu S, Bueno M, Vitoria I, Toledo L, Couce ML, García-Jiménez I, Ramos-Ruiz R, Martín MÁ, Desviat LR, Ugarte M, Pérez-Cerdá C, Merinero B, Pérez B, Rodríguez-Pombo P. Bravo-Alonso I, et al. Among authors: navarrete r. J Clin Med. 2019 Nov 1;8(11):1811. doi: 10.3390/jcm8111811. J Clin Med. 2019. PMID: 31683770 Free PMC article.
Defining the pathogenicity of creatine deficiency syndrome.
Alcaide P, Merinero B, Ruiz-Sala P, Richard E, Navarrete R, Arias A, Ribes A, Artuch R, Campistol J, Ugarte M, Rodríguez-Pombo P. Alcaide P, et al. Among authors: navarrete r. Hum Mutat. 2011 Mar;32(3):282-91. doi: 10.1002/humu.21421. Epub 2011 Feb 8. Hum Mutat. 2011. PMID: 21140503
30 results