Comparative analysis of the bronchoalveolar microbiome in Portuguese patients with different chronic lung disorders von Seixas, Susana, Kolbe, Allison R., Gomes, Sílvia, Sucena, Maria, Sousa, Catarina, Vaz Rodrigues, Luís, Teixeira, Gilberto, Pinto, Paula Maria Gonçalves, Tavares de Abreu, Tiago, Bárbara, Cristina, Semedo, Júlio, Mota, Leonor, Carvalho, Ana Sofia, Matthiesen, Rune, Marques, Patrícia Isabel, Pérez-Losada, Marcos

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Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure von Hardy, Jimmaline J., Wyrwoll, Margot J., Mcfadden, William, Malcher, Agnieszka, Rotte, Nadja, Pollock, Nijole C., Munyoki, Sarah, Veroli, Maria V., Houston, Brendan J., Xavier, Miguel J., Kasak, Laura, Punab, Margus, Laan, Maris, Kliesch, Sabine, Schlegel, Peter, Jaffe, Thomas, Hwang, Kathleen, Vukina, Josip, Brieño-Enríquez, Miguel A., Orwig, Kyle, Yanowitz, Judith, Buszczak, Michael, Veltman, Joris A., Oud, Manon, Nagirnaja, Liina, Olszewska, Marta, O’Bryan, Moira K., Conrad, Donald F., Kurpisz, Maciej, Tüttelmann, Frank, Yatsenko, Alexander N.

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GBA3: a polymorphic pseudogene in humans that experienced repeated gene loss during mammalian evolution von Lopes-Marques, Monica, Serrano, Catarina, Cardoso, Ana R., Salazar, Renato, Seixas, Susana, Amorim, António, Azevedo, Luisa, Prata, Maria J.

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E-cadherin signal sequence disruption: a novel mechanism underlying hereditary cancer von Figueiredo, Joana, Melo, Soraia, Gamet, Kimberley, Godwin, Tanis, Seixas, Susana, Sanches, João M, Guilford, Parry, Seruca, Raquel

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Adaptive evolution and divergence of SERPINB3: a young duplicate in great Apes von Gomes, Sílvia, Marques, Patrícia I, Matthiesen, Rune, Seixas, Susana

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Loss and gain of function in SERPINB11: an example of a gene under selection on standing variation, with implications for host-pathogen interactions von Seixas, Susana, Ivanova, Nevyana, Ferreira, Zelia, Rocha, Jorge, Victor, Bruno L

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Distinctive patterns of evolution of the δ-globin gene (HBD) in primates von Moleirinho, Ana, Lopes, Alexandra M, Seixas, Susana, Morales-Hojas, Ramiro, Prata, Maria J, Amorim, António

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A model to infer the pathogenic significance of CDH1 germline missense variants von SURIANO, Gianpaolo, SEIXAS, Susana, ROCHA, Jorge, SERUCA, Raquel

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Contribution of TEX15 genetic variants to the risk of developing severe non-obstructive oligozoospermia von Guzmán-Jiménez, Andrea, González-Muñoz, Sara, Cerván-Martín, Miriam, Rivera-Egea, Rocío, Garrido, Nicolás, Luján, Saturnino, Santos-Ribeiro, Samuel, Castilla, José A, Gonzalvo, M Carmen, Clavero, Ana, Vicente, F Javier, Maldonado, Vicente, Villegas-Salmerón, Javier, Burgos, Miguel, Jiménez, Rafael, Pinto, Maria Graça, Pereira, Isabel, Nunes, Joaquim, Sánchez-Curbelo, Josvany, López-Rodrigo, Olga, Pereira-Caetano, Iris, Marques, Patricia Isabel, Carvalho, Filipa, Barros, Alberto, Bassas, Lluís, Seixas, Susana, Gonçalves, João, Lopes, Alexandra M, Larriba, Sara, Palomino-Morales, Rogelio J, Carmona, F David, Bossini-Castillo, Lara

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SERPINA2 is a novel gene with a divergent function from SERPINA1 von Marques, Patrícia Isabel, Ferreira, Zélia, Martins, Manuella, Figueiredo, Joana, Silva, Diana Isabel, Castro, Patrícia, Morales-Hojas, Ramiro, Simões-Correia, Joana, Seixas, Susana

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Known Mutations at the Cause of Alpha-1 Antitrypsin Deficiency an Updated Overview of SERPINA1 Variation Spectrum von Seixas, Susana, Marques, Patricia Isabel

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Known Mutations at the Cause of Alpha-1 Antitrypsin Deficiency an Updated Overview of SERPINAI Variation Spectrum von Seixas, Susana, Marques, Patricia Isabel

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Infection-associated FUT2 (Fucosyltransferase 2) genetic variation and impact on functionality assessed by in vivo studies von Silva, Lara M, Carvalho, Ana S, Guillon, Patrice, Seixas, Susana, Azevedo, Maria, Almeida, Raquel, Ruvoën-Clouet, Nathalie, Reis, Celso A, Le Pendu, Jacques, Rocha, Jorge, David, Leonor

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Birth-and-death of KLK3 and KLK2 in primates: evolution driven by reproductive biology von Marques, Patrícia Isabel, Bernardino, Rui, Fernandes, Teresa, Green, Eric D, Hurle, Belen, Quesada, Victor, Seixas, Susana

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A de novo paradigm for male infertility von Oud, M. S., Smits, R. M., Smith, H. E., Mastrorosa, F. K., Holt, G. S., Houston, B. J., de Vries, P. F., Alobaidi, B. K. S., Batty, L. E., Ismail, H., Greenwood, J., Sheth, H., Mikulasova, A., Astuti, G. D. N., Gilissen, C., McEleny, K., Turner, H., Coxhead, J., Cockell, S., Braat, D. D. M., Fleischer, K., D’Hauwers, K. W. M., Schaafsma, E., Nagirnaja, L., Conrad, D. F., Friedrich, C., Kliesch, S., Aston, K. I., Riera-Escamilla, A., Krausz, C., Gonzaga-Jauregui, C., Santibanez-Koref, M., Elliott, D. J., Vissers, L. E. L. M., Tüttelmann, F., O’Bryan, M. K., Ramos, L., Xavier, M. J., van der Heijden, G. W., Veltman, J. A.

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Profiling of lung microbiota discloses differences in adenocarcinoma and squamous cell carcinoma von Gomes, Sílvia, Cavadas, Bruno, Ferreira, Joana Catarina, Marques, Patrícia Isabel, Monteiro, Catarina, Sucena, Maria, Sousa, Catarina, Vaz Rodrigues, Luís, Teixeira, Gilberto, Pinto, Paula, Tavares de Abreu, Tiago, Bárbara, Cristina, Semedo, Júlio, Mota, Leonor, Carvalho, Ana Sofia, Matthiesen, Rune, Pereira, Luísa, Seixas, Susana

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Alpha-1-antitrypsin (SERPINA1) mutation spectrum: Three novel variants and haplotype characterization of rare deficiency alleles identified in Portugal von Silva, Deolinda, Oliveira, Maria João, Guimarães, Miguel, Lima, Ricardo, Gomes, Sílvia, Seixas, Susana

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Alpha-1 Antitrypsin Deficiency Detection in a Portuguese Population von Meira, Leonor, Boaventura, Rita, Seixas, Susana, Sucena, Maria

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Characterization of microbiota in male infertility cases uncovers differences in seminal hyperviscosity and oligoasthenoteratozoospermia possibly correlated with increased prevalen... von Monteiro, Catarina, Marques, Patrícia I., Cavadas, Bruno, Damião, Isabel, Almeida, Vasco, Barros, Nuno, Barros, Alberto, Carvalho, Filipa, Gomes, Sílvia, Seixas, Susana

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Actionable secondary findings following exome sequencing of 836 non-obstructive azoospermia cases and their value in patient management von Kasak, Laura, Lillepea, Kristiina, Nagirnaja, Liina, Aston, Kenneth I, Schlegel, Peter N, Gonçalves, João, Carvalho, Filipa, Moreno-Mendoza, Daniel, Almstrup, Kristian, Eisenberg, Michael L, Jarvi, Keith A, O’Bryan, Moira K, Lopes, Alexandra M, Conrad, Donald F, Punab, Margus, Laan, Maris

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