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Refinado por: assunto: Human Genetics remover
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HLA-G expression in Merkel cell carcinoma and the correlation with Merkel cell polyomavirus infection
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HLA-G expression in Merkel cell carcinoma and the correlation with Merkel cell polyomavirus infection

Parra, L. M. ; Sartori, B. G. C. ; Fernandes, D. R. ; Fachin, L. R. V. ; Nogueira, M. R. S. ; Belone, A. F. F. ; Nunes, A. J. F. ; Souza-Santana, F. C.

Immunogenetics (New York), 2023-04, Vol.75 (2), p.81-89 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localization of the wild-type protein
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A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localization of the wild-type protein

Lia-Baldini, A. S. ; Brun-Heath, I. ; Carrion, C. ; Simon-Bouy, B. ; Serre, J. L. ; Nunes, M. E. ; Mornet, E.

Human genetics, 2008-05, Vol.123 (4), p.429-432 [Periódico revisado por pares]

Berlin/Heidelberg: Springer-Verlag

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Metformin reduces total microparticles and microparticles-expressing tissue factor in women with polycystic ovary syndrome
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Metformin reduces total microparticles and microparticles-expressing tissue factor in women with polycystic ovary syndrome

Carvalho, Laura M. L. ; Ferreira, Cláudia N. ; Candido, Ana L. ; Reis, Fernando M. ; Sóter, Mirelle O. ; Sales, Mariana F. ; Silva, Ieda F. O. ; Nunes, Fernanda F. C. ; Gomes, Karina Braga

Archives of gynecology and obstetrics, 2017-10, Vol.296 (4), p.617-621 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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4
Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management
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Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management

Avila, Magali ; Dyment, David A. ; Sagen, Jørn V. ; St-Onge, Judith ; Moog, Ute ; Chung, Brian H. Y. ; Mansour, Sahar ; Albanese, Assunta ; Garcia, Sixto ; Ortiz Martin, David ; Lopez, Ainhoa Abad ; Claudi, Tor ; König, Rainer ; White, Susan M. ; Sawyer, Sarah L. ; Bernstein, Jon A. ; Slattery, Leah ; Jobling, Rebekah K. ; Yoon, Grace ; Curry, Cynthia J. ; Le Merrer, Martine ; Le Luyer, Bernard ; Héron, Delphine ; Mathieu-Dramard, Michèle ; Bitoun, Pierre ; Odent, Sylvie ; Amiel, Jeanne ; Kuentz, Paul ; Thevenon, Julien ; Laville, Martine ; Reznik, Yves ; Fagour, Cédric ; Nunes, Marie-Laure ; Delesalle, Dorothée ; Manouvrier, Sylvie ; Lascols, Olivier ; Huet, Frédéric ; Binquet, Christine ; Faivre, Laurence ; Rivière, Jean-Baptiste ; Vigouroux, Corinne ; Njølstad, Pål Rasmus ; Innes, A. Micheil ; Thauvin-Robinet, Christel

Clinical genetics, 2016, Vol.89 (4) [Periódico revisado por pares]

Wiley

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