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Delamare, M., Le Roy, A., Pacault, M., Schmitt, L., Garrec, C., Maaziz, N., Myllykoski, M., Rimbert, A., Karaghiannis, V., Aral, B., Catherwood, M., Airaud, F., Mansour-Hendili, L., Hoogewijs, D., Peroni, E., Idriss, S., Lesieur, V., Caillaud, A., Si-Tayeb, K., \u2026 ECYT-3 consortium. (2023). Characterization of genetic variants in the EGLN1\/PHD2 gene identified in a European collection of patients with erythrocytosis. Haematologica<\/i>, 108<\/i>(11), 3068\u20133085. https:\/\/doi.org\/10.3324\/haematol.2023.282913<\/a><\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
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Manco, L., Albuquerque, D., Rodrigues, D., Machado-Rodrigues, A. M., & Padez, C. (2023). Protective Association of APOC1\/rs4420638 with Risk of Obesity: A case-control Study in Portuguese Children. Biochemical Genetics<\/i>. https:\/\/doi.org\/10.1007\/s10528-023-10427-4<\/a><\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
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Videira-Silva, A., Manco, L., Sardinha, L. B., & Fonseca, H. (2023). Vigorous physical activity: A potential ally in adolescent obesity management. European Journal of Sport Science<\/i>, 23<\/i>(4), 607\u2013616. https:\/\/doi.org\/10.1080\/17461391.2022.2035437<\/a><\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
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Manco, L., Pereira, J., Fidalgo, T., Cunha, M., Pinto-Gouveia, J., Padez, C., & Palmeira, L. (2023). Next-generation sequencing of 12 obesity genes in a Portuguese cohort of patients with overweight and obesity. European Journal of Medical Genetics<\/i>, 66<\/i>(4), 104728. https:\/\/doi.org\/10.1016\/j.ejmg.2023.104728<\/a><\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
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Manco, L., Bento, C., Relvas, L., Maia, T., & Ribeiro, M. L. (2023). Molecular Heterogeneity of Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency in the Portuguese Population. Acta Medica Portuguesa<\/i>, 36<\/i>(2), 81\u201387. https:\/\/doi.org\/10.20344\/amp.17584<\/a><\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
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Karaghiannis, V., Maric, D., Garrec, C., Maaziz, N., Buffet, A., Schmitt, L., Antunes, V., Airaud, F., Aral, B., Roy, A. L., Corbineau, S., Mansour-Hendili, L., Lesieur, V., Rimbert, A., Laporte, F., Delamare, M., Rab, M., B\u00e9zieau, S., Cassinat, B., \u2026 Gardie, B. (2023). Comprehensive in silico and functional studies for classification of EPAS1\/HIF2A genetic variants identified in patients with erythrocytosis. Haematologica<\/i>, 108<\/i>(6), 1652\u20131666. https:\/\/doi.org\/10.3324\/haematol.2022.281698<\/a><\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
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Manco, L., Albuquerque, D., Aranda, B., Rodrigues, D., Machado-Rodrigues, A. M., & Padez, C. (2023). Differential sex-association between PCSK1 polymorphisms and obesity risk in Portuguese children. American Journal of Human Biology<\/i>, n\/a<\/i>(n\/a), e24023. https:\/\/doi.org\/10.1002\/ajhb.24023<\/a><\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
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Ma\u00f1\u00fa Pereira, M. D. M., Colombatti, R., Alvarez, F., Bartolucci, P., Bento, C., Brunetta, A. L., Cela, E., Christou, S., Collado, A., de Montalembert, M., Dedeken, L., Fenaux, P., Galacteros, F., Glenth\u00f8j, A., Guti\u00e9rrez Valle, V., Kattamis, A., Kunz, J., Lobitz, S., McMahon, C., \u2026 Gulbis, B. (2023). Sickle cell disease landscape and challenges in the EU: the ERN-EuroBloodNet perspective. The Lancet. Haematology<\/i>, 10<\/i>(8), e687\u2013e694. Scopus. https:\/\/doi.org\/10.1016\/S2352-3026(23)00182-5<\/a><\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
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Kountouris, P., Stephanou, C., Lederer, C. W., Traeger-Synodinos, J., Bento, C., Harteveld, C. L., Fylaktou, E., Koopmann, T. T., Halim-Fikri, H., Michailidou, K., Nfonsam, L. E., Waye, J. S., Zilfalil, B. A., Kleanthous, M., & ClinGen Hemoglobinopathy Variant Curation Expert Panel. (2022). Adapting the ACMG\/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel. Human Mutation<\/i>, 43<\/i>(8), 1089\u20131096. https:\/\/doi.org\/10.1002\/humu.24280<\/a><\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
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Manco, L., Santos, R., Rocha, C., Relvas, L., Bento, C., Maia, T., Gomes, V., Amorim, A., & Prata, M. J. (2022). Hb F Levels in \u03b2-Thalassemia Carriers and Normal Individuals: Known and Unknown Quantitative Trait Loci in the \u03b2-Globin Gene Cluster. Hemoglobin<\/i>, 46<\/i>(3), 168\u2013175. https:\/\/doi.org\/10.1080\/03630269.2022.2070498<\/a><\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
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Manco, L., & Dias, H. C. (2022). DNA methylation analysis of ELOVL2 gene using droplet digital PCR for age estimation purposes. Forensic Science International<\/i>, 333<\/i>, 111206. https:\/\/doi.org\/10.1016\/j.forsciint.2022.111206<\/a><\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
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Bouabdallah, S., Alves, D., & Manco, L. (2022). Analysis of Human Y Chromosome Haplogroup E-M81 Sublineages in Portuguese Samples. Human Biology<\/i>, 94<\/i>(4), 179\u2013187. https:\/\/muse.jhu.edu\/pub\/27\/article\/937178<\/a><\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
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Kirschner, M., Heinen, I. R., Koschmieder, S., Manco, L., Bento, C., Eggermann, T., Kurth, I., Jost, E., Br\u00fcmmendorf, T. H., & Fuchs, R. (2022). Novel homozygous nonsense mutation in the P5\u2032N-1 coding gene as an alternative cause for hereditary anemia with basophilic stippling. Clinical Case Reports<\/i>, 10<\/i>(3), e05501. https:\/\/doi.org\/10.1002\/ccr3.5501<\/a><\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
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Pascual, C., Nieto, J. M., Fidalgo, T., Segu\u00ed, I. G., D\u00edaz-Ricart, M., Docampo, M. F., del Rio, J., & Salinas, R. (2021). Multicentric evaluation of the new HemosIL Acustar\u00ae chemiluminescence ADAMTS13 activity assay. International Journal of Laboratory Hematology<\/i>, 43<\/i>(3), 485\u2013493. https:\/\/doi.org\/10.1111\/ijlh.13414<\/a><\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
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Correia Dias, H., Manco, L., Corte Real, F., & Cunha, E. (2021). A Blood\u2013Bone\u2013Tooth Model for Age Prediction in Forensic Contexts. Biology<\/i>, 10<\/i>(12), 1312. https:\/\/doi.org\/10.3390\/biology10121312<\/a><\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
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Dias, H. (2021). Metila\u00e7\u00e3o de DNA como um preditor de idade \u00e0 morte. Tese de Doutoramento em Antropologia, especializa\u00e7\u00e3o em Antropologia Forense.<\/i> Departamento de Ci\u00eancias da Vida, Faculdade de Ci\u00eancias e Tecnologia, Universidade de Coimbra [Orienta\u00e7\u00e3o: Professora Eug\u00e9nia Cunha, Professor Lic\u00ednio Manco, Professor Francisco Corte Real].<\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
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Gonz\u00e1lez, L., Garc\u00eda\u2011Herr\u00e1iz, A., Mota\u2011Zamorano, S., Flores, I., Albuquerque, D., & Gervacini, G. (2021). Variability in cannabinoid receptor genes is associated with psychiatric comorbidities in anorexia nervosa. Eating and Weight Disorders<\/i>, [Early View]<\/i>. https:\/\/doi.org\/10.1007\/s40519-021-01106-7<\/a><\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
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Moreira Fonseca, N., Cardoso, F., Monteiro, M., G\u00f3is, M., Sousa, H., Fidalgo, T., Calado, J., & Nolasco, F. (2020). A case of bortezomib-associated thrombotic microangiopathy in a multiple myeloma patient. Journal of Onco-Nephrology<\/i>, 4<\/i>(1\u20132), 46\u201351. https:\/\/doi.org\/10.1177\/2399369319894343<\/a><\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
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Relvas, M., Tavares, I., Fidalgo, T., Mendon\u00e7a, L., & Coentr\u00e3o, L. (2020). Reviewing thrombotic thrombocytopenic purpura diagnosis and treatment in a Portuguese hospital. European Journal of Internal Medicine<\/i>, 71<\/i>, 95\u201397. https:\/\/doi.org\/10.1016\/j.ejim.2019.11.004<\/a><\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
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Manco, L., Bento, C., Relvas, L., Cunha, E., Pereira, J., Moreira, V., Alvarez, M., Maia, T., & Ribeiro, M. L. (2020). Multi-Locus Models to Address Hb F Variability in Portuguese \u03b2-Thalassemia Carriers. Hemoglobin \u2013 International Journal for Hemoglobin Research<\/i>, 44<\/i>(2), 113\u2013117. https:\/\/doi.org\/10.1080\/03630269.2020.1753766<\/a><\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
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Manco, L., Machado-Rodrigues, A. M., & Padez, C. (2020). Association study of common functional genetic polymorphisms in SLC6A4 (5-HTT) and MAOA genes with obesity in portuguese children. Archives of Physiology and Biochemistry<\/i>, Epub<\/i>(Jun), 1\u20136. https:\/\/doi.org\/10.1080\/13813455.2020.1779312<\/a><\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
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Correia Dias, H., Corte Real, F., Cunha, E., & Manco, L. (2020). DNA methylation age estimation from human bone and teeth. Australian Journal of Forensic Sciences<\/i>, [Epub]<\/i>. https:\/\/doi.org\/10.1080\/00450618.2020.1805011<\/a><\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
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Correia Dias, H., Cunha, E., Corte Real, F., & Manco, L. (2020). Age prediction in living: Forensic epigenetic age estimation based on blood samples. Legal Medicine<\/i>, 47<\/i>, 101763. https:\/\/doi.org\/10.1016\/j.legalmed.2020.101763<\/a><\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
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Correia Dias, H., Cordeiro, C., Pereira, J., Pinto, C., Real, F. C., Cunha, E., & Manco, L. (2020). DNA methylation age estimation in blood samples of living and deceased individuals using a multiplex SNaPshot assay. Forensic Science International<\/i>, 311<\/i>, 110267. https:\/\/doi.org\/10.1016\/j.forsciint.2020.110267<\/a><\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
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Correia Dias, H., Cordeiro, C., Real, F. C., Cunha, E., & Manco, L. (2020). Age Estimation Based on DNA Methylation Using Blood Samples From Deceased Individuals. Journal of Forensic Sciences<\/i>, 65<\/i>(2), 465\u2013470. https:\/\/doi.org\/10.1111\/1556-4029.14185<\/a><\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
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Michiels, J. J., Hansen, D. F., Smejkal, P., Fidalgo, T., Battle, F. J., Blatny, J., Penka, M., Batorova, A., Prigancova, T., Budde, U., Vangenechten, I., & Gadisseur, A. (2019). Molecular Etiology and Laboratory Phenotypes of Recessive Von Willebrand Disease 2N Due to Mutations in the D\u2019D3 Factor VIII-Binding Domain of the Von Willebrand Factor Gene: A Critical Appraisal of the Literature and Personal Experiences. Acta Scientific Medical Sciences<\/i>, 3<\/i>(12). https:\/\/doi.org\/http:\/\/dx.doi.org\/10.31080\/asms.2019.03.0483<\/a><\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
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Mutlu, B., Keskin, E. Y., Oliveira, A., Relvas, L., & Bento, C. (2019). A Rare Cause of Cyanosis Since Birth: Hb M-Iwate. Turkish Journal of Haematology<\/i>, 36<\/i>(4), 299\u2013301. https:\/\/doi.org\/10.4274\/tjh.galenos.2019.2019.0123<\/a><\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
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Palmeira, L., Cunha, M., Padez, C., Alvarez, M., Pinto-Gouveia, J., & Manco, L. (2019). Association study of variants in genes FTO, SLC6A4, DRD2, BDNF and GHRL with binge eating disorder (BED) in Portuguese women. Psychiatry Research<\/i>, 273<\/i>, 309\u2013311. https:\/\/doi.org\/10.1016\/j.psychres.2019.01.047<\/a><\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
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Marini, S. C., Carda, P., Guilherme, R., Pinto, C. S., Fidalgo, T., & Ribeiro, M. L. (2019). Atypical hemolytic \u2013 uremic syndrome\u202f: recurrent phenotypic expression of a patient with MCP gene mutation combined with risk haplotypes. BLOOD COAGULATION & FIBRINOLYSIS<\/i>, 30<\/i>(2), 68\u201370. https:\/\/doi.org\/10.1097\/MBC.0000000000000793<\/a><\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
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Manco, L., Pinho, S., Albuquerque, D., Machado-Rodrigues, A. M., & Padez, C. (2019). Physical activity and the association between the FTO rs9939609 polymorphism and obesity in Portuguese children aged 3 to 11 years. American Journal of Human Biology<\/i>, 31<\/i>([Epub ahead of print]), e23312. https:\/\/doi.org\/10.1002\/ajhb.23312<\/a><\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
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Borr\u00e0s, N., & [...] & Fidalgo, T. (2019). Unraveling the effect of silent, intronic and missense mutations on VWF splicing: contribution of next generation sequencing in the study of mRNA. Haematologica<\/i>, 104<\/i>(3), 587\u2013598. https:\/\/doi.org\/10.3324\/haematol.2018.203166<\/a><\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
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Gimeno-Ferrer, F., Albuquerque, D., Banacloy, A. G., Luj\u00e1n, C. G., Benito, G. M., Juan, C. S., Esteban, M. B., & Rodr\u00edguez-L\u00f3pez, R. (2019). Genetic screening for MC4R gene identifies three novel mutations associated with severe familiar obesity in a cohort of Spanish individuals. Gene<\/i>, April<\/i>([In press]). https:\/\/doi.org\/10.1016\/j.gene.2019.04.018<\/a><\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
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Gimeno-Ferrer, F., Albuquerque, D., Luj\u00e1n, C. G., Benito, G. M., Banzas, C. T., Rep\u00e1raz-Andrade, A., Cogollos, V. B., P\u00e9rez-Gramunt, M. A., G\u00f3mez, E. G., Quintela, I., & Rodr\u00edguez-L\u00f3pez, R. (2019). The effect of copy number variations in chromosome 16p on body weight in patients with intellectual disability. Journal of Human Genetics<\/i>, 64<\/i>(3), 221\u2013231. https:\/\/doi.org\/10.1038\/s10038-018-0545-5<\/a><\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
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Albuquerque, D., Gonz\u00e1lez, L. M., Ferrer, F. G., Bruna, M., S\u00e1nchez, C., Benito, G. M., Rodr\u00edguez-L\u00f3pez, R., & Manco, L. (2018). Association study of six single nucleotide polymorphisms with obesity in two independent Iberian samples. Meta Gene<\/i>, 17<\/i>, 17\u201322. https:\/\/doi.org\/10.1016\/j.mgene.2018.04.006<\/a><\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
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Navarro, D., Azevedo, A., Sequeira, S., Ferreira, A., Carvalho, F., Fidalgo, T., Vilarinho, L., Santos, M., Calado, J., & Nolasco, F. (2018). Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome. CEN Case Reports<\/i>, 7<\/i>(1), 73\u201376. https:\/\/doi.org\/10.1007\/s13730-017-0298-6<\/a><\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
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Azevedo, A., Faria, B., Teixeira, C., Carvalho, F., Neto, G., Santos, J., Santos, M. C., Oliveira, N., Fidalgo, T., & Calado, J. (2018). Portuguese Consensus Document Statement in diagnostic and management of atypical hemolytic uremic syndrome. Port J Nephrol Hypertens<\/i>, 32<\/i>, 211\u2013232.<\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
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Gimeno-Ferrer, F., Albuquerque, D., Ledesma, M., Monz\u00f3, C., Gervasini, G., Angueira, F., Carbonell, J., Benito, G., Rodr\u00edguez-L\u00f3pez, R., & G\u00f3mez, E. (2018). Molecular characterization of the coexistence of 18q haploinsufficiency and 18p duplication, causal of a complex syndromic phenotype. Gen\u00e9tica M\u00e9dica y Gen\u00f3mica<\/i>, [Epub]<\/i>.<\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
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Coelho, S., Fernandes, A., Soares, E., Val\u00e9rio, P., Matos, B., Rom\u00e3o, H., G\u00f3is, M., Sousa, H., Fidalgo, T., Nat\u00e1rio, A., & Barreto, C. (2018). A new complement factor B mutation associated with crescentic C3 glomerulopathy; a case report. Journal of Nephropathology<\/i>, 7<\/i>([Epub]). https:\/\/doi.org\/10.15171\/jnp.2018.xx<\/a><\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
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Barradas, J., Rodrigues, C., Ferreira, G., Rocha, P., Constan\u00e7o, C., Andrade, M., Bento, C., & Silva, H. (2018). Congenital erythrocytosis \u2013 discover of a new mutation in the EGLN 1 gene. Clinical Case Reports<\/i>, 6<\/i>(6), 1109\u20131111. https:\/\/doi.org\/10.1002\/ccr3.1499<\/a><\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
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Manco, L., Soares, A., & Wasterlain, S. N. (2018). Association of 5-HTTLPR genotypes with antissocial behavior in response to childhood environment: a study in young adults of Portuguese origin. Psychiatry Research<\/i>, 262<\/i>, 325\u2013327. https:\/\/doi.org\/10.1016\/j.psychres.2017.01.001<\/a><\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
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Pinho, S., Padez, C., & Manco, L. (2018). High AMY1 copy number protects against obesity in Portuguese young adults. Annals of Human Biology<\/i>, 45<\/i>(5), 435\u2013439. https:\/\/doi.org\/10.1080\/03014460.2018.1490452<\/a><\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
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Alvarez, M. (2018). Os determinantes biol\u00f3gicos, sociais e culturais do envelhecimento saud\u00e1vel. In Manual de Boas pr\u00e1ticas para o Envelhecimento Activo e Saud\u00e1vel<\/i> (Agein@Coimbra e Comiss\u00e3o de Coordena\u00e7\u00e3o e Desenvolvimento da Regi\u00e3o Centro). http:\/\/www.ccdrc.pt\/index.regiao-centro-partilha- boas-praticas-de-envelhecimento-ativo-e- saudavel&catid=1573:destaques&Itemid=756<\/a><\/div>\n<\/div>\n\t\t\t\t<\/div>\t\t\t\t
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Lobitz, Z., Telfer, P., Cela, E., Allaf, B., Angastiniotis, M., Backman Johansson, C., Badens, C., Bento, C., Bouva, M. J., Canatan, D., Charlton, M., Coppinger, C., Daniel, Y., de Montalembert, M., Ducoroy, P., Dulin, E., Fingerhut, R., Fr\u00f6mmel, C., Garc\u00eda-Morin, M., \u2026 with the endorsement of EuroBloodNet, the European Reference Network in Rare Haematological Diseases. (2018). Newborn screening for sickle cell disease in Europe: recommendations from a Pan- European Consensus Conference. British Journal of Haematology<\/i>, 183<\/i>(4), 648\u2013660. https:\/\/doi.org\/10.1111\/bjh.15600<\/a><\/div>\n<\/div>\n\t\t\t\t<\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n\n<\/p>\n","protected":false},"excerpt":{"rendered":"","protected":false},"author":1,"featured_media":318,"parent":1876,"menu_order":4,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_et_pb_use_builder":"","_et_pb_old_content":"","_et_gb_content_width":"","footnotes":"","_links_to":"","_links_to_target":""},"class_list":["post-1891","page","type-page","status-publish","has-post-thumbnail","hentry"],"acf":[],"yoast_head":"\nPublica\u00e7\u00f5es Genes, Popula\u00e7\u00f5es e Doen\u00e7as - CIAS<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/cias.uc.pt\/pt-pt\/investigacao\/grupos-de-investigacao\/genes-populacoes-e-doencas\/publicacoes\/\" \/>\n<meta property=\"og:locale\" content=\"pt_PT\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Publica\u00e7\u00f5es Genes, Popula\u00e7\u00f5es e Doen\u00e7as - 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