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Year Number of Results
2014 1
2015 2
2017 1
2018 1
2020 1
2021 0
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Page 1
Recommendations for Improving the Quality of Rare Disease Registries.
Kodra Y, Weinbach J, Posada-de-la-Paz M, Coi A, Lemonnier SL, van Enckevort D, Roos M, Jacobsen A, Cornet R, Ahmed SF, Bros-Facer V, Popa V, Van Meel M, Renault D, von Gizycki R, Santoro M, Landais P, Torreri P, Carta C, Mascalzoni D, Gainotti S, Lopez E, Ambrosini A, Müller H, Reis R, Bianchi F, Rubinstein YR, Lochmüller H, Taruscio D. Kodra Y, et al. Among authors: lopez e. Int J Environ Res Public Health. 2018 Aug 3;15(8):1644. doi: 10.3390/ijerph15081644. Int J Environ Res Public Health. 2018. PMID: 30081484 Free PMC article.
Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity.
Matalonga L, Laurie S, Papakonstantinou A, Piscia D, Mereu E, Bullich G, Thompson R, Horvath R, Pérez-Jurado L, Riess O, Gut I, van Ommen GJ, Lochmüller H, Beltran S; RD–Connect Genome-Phenome Analysis Platform and URD-Cat Data Contributors. Matalonga L, et al. J Mol Diagn. 2020 Sep;22(9):1205-1215. doi: 10.1016/j.jmoldx.2020.06.008. Epub 2020 Jun 30. J Mol Diagn. 2020. PMID: 32619640 Free PMC article.
Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer.
Sernadela P, González-Castro L, Carta C, van der Horst E, Lopes P, Kaliyaperumal R, Thompson M, Thompson R, Queralt-Rosinach N, Lopez E, Wood L, Robertson A, Lamanna C, Gilling M, Orth M, Merino-Martinez R, Posada M, Taruscio D, Lochmüller H, Robinson P, Roos M, Oliveira JL. Sernadela P, et al. Among authors: lopez e. Biomed Res Int. 2017;2017:8327980. doi: 10.1155/2017/8327980. Epub 2017 Oct 29. Biomed Res Int. 2017. PMID: 29214177 Free PMC article.
First steps toward harmonized human biomonitoring in Europe: demonstration project to perform human biomonitoring on a European scale.
Den Hond E, Govarts E, Willems H, Smolders R, Casteleyn L, Kolossa-Gehring M, Schwedler G, Seiwert M, Fiddicke U, Castaño A, Esteban M, Angerer J, Koch HM, Schindler BK, Sepai O, Exley K, Bloemen L, Horvat M, Knudsen LE, Joas A, Joas R, Biot P, Aerts D, Koppen G, Katsonouri A, Hadjipanayis A, Krskova A, Maly M, Mørck TA, Rudnai P, Kozepesy S, Mulcahy M, Mannion R, Gutleb AC, Fischer ME, Ligocka D, Jakubowski M, Reis MF, Namorado S, Gurzau AE, Lupsa IR, Halzlova K, Jajcaj M, Mazej D, Tratnik JS, López A, Lopez E, Berglund M, Larsson K, Lehmann A, Crettaz P, Schoeters G. Den Hond E, et al. Among authors: lopez e. Environ Health Perspect. 2015 Mar;123(3):255-63. doi: 10.1289/ehp.1408616. Epub 2014 Dec 11. Environ Health Perspect. 2015. PMID: 25493439 Free PMC article.
Fish consumption patterns and hair mercury levels in children and their mothers in 17 EU countries.
Castaño A, Cutanda F, Esteban M, Pärt P, Navarro C, Gómez S, Rosado M, López A, López E, Exley K, Schindler BK, Govarts E, Casteleyn L, Kolossa-Gehring M, Fiddicke U, Koch H, Angerer J, Den Hond E, Schoeters G, Sepai O, Horvat M, Knudsen LE, Aerts D, Joas A, Biot P, Joas R, Jiménez-Guerrero JA, Diaz G, Pirard C, Katsonouri A, Cerna M, Gutleb AC, Ligocka D, Reis FM, Berglund M, Lupsa IR, Halzlová K, Charlier C, Cullen E, Hadjipanayis A, Krsková A, Jensen JF, Nielsen JK, Schwedler G, Wilhelm M, Rudnai P, Középesy S, Davidson F, Fischer ME, Janasik B, Namorado S, Gurzau AE, Jajcaj M, Mazej D, Tratnik JS, Larsson K, Lehmann A, Crettaz P, Lavranos G, Posada M. Castaño A, et al. Among authors: lopez e. Environ Res. 2015 Aug;141:58-68. doi: 10.1016/j.envres.2014.10.029. Epub 2015 Feb 7. Environ Res. 2015. PMID: 25667172 Free article.