Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Noelia Rapun"'
Autor:
José Luis Lopez-Campos, Noelia Rapun, Karen Czischke, José R. Jardim, Mariano Fernandez Acquier, Abraham Ali Munive, Hakan Günen, Estrella Drobnic, Marc Miravitlles, Lourdes Osaba
Publikováno v:
Human Genomics, Vol 17, Iss 1, Pp 1-12 (2023)
Abstract Background Knowledge of the frequency of rare SERPINA1 mutations could help in the management of alpha1 antitrypsin deficiency (AATD). The present study aims to assess the frequencies of rare and null alleles and their respiratory and hepati
Externí odkaz:
https://doaj.org/article/64d74f862c284908abdd7fe4b2d7452d
Autor:
José Luis Lopez-Campos, Lourdes Osaba, Karen Czischke, José R. Jardim, Mariano Fernandez Acquier, Abraham Ali, Hakan Günen, Noelia Rapun, Estrella Drobnic, Marc Miravitlles
Publikováno v:
Respiratory Research, Vol 23, Iss 1, Pp 1-12 (2022)
Abstract Introduction Currently, strategies for improving alpha1 antitrypsin deficiency (AATD) diagnosis are needed. Here we report the performance of a multinational multiplex-based genotyping test on dried blood spots and buccal swabs sent by post
Externí odkaz:
https://doaj.org/article/40ced39be8b142f1a066c5417c6abfca
Autor:
Sabina Janciauskiene, Christian Herr, Claus Vogelmeier, V Kotke, Timm Greulich, Martina Veith, Rachid El Hamss, Noelia Rapun, Robert Bals, Iker Anton, Andreas Klemmer
Publikováno v:
International Journal of Chronic Obstructive Pulmonary Disease. 14:2535-2542
Purpose Alpha-1-antitrypsin deficiency (AATD) is a rare hereditary condition resulting from the mutations in the SERPINA1 (serine protease inhibitor) gene and is characterized by low circulating levels of the alpha-1 antitrypsin (AAT) protein. The tr
Autor:
Ines Carrascosa, Francisco Casas-Maldonado, Noelia Rapun, Estrella Drobnic, Lourdes Osaba, Maria Luisa Rodriguez-Fidalgo, Agustin Medina-Gonzálvez, Myriam Calle, José Luis López-Campos, Marc Miravitlles, María Torres-Durán
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
instname
[EN]: [Introduction]: The objective of this analysis was the evaluation of a new national circuit used for diagnosing alpha1 antitrypsin deficiency (AATD) based on multiplex technology using online registration and mail posted samples from dried bloo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1cb2dbc3229ee1a71d5fd6d7833d9247
http://hdl.handle.net/10261/237525
http://hdl.handle.net/10261/237525
Autor:
Mas, Noelia Rapun.
This thesis reports research into the development of metal oxide-polymer hybrids as novel materials for optoelectronic packaging. Transparent hybrids have been successfully achieved, the chemistry of the interaction between organic-inorganic phases i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______305::0890d481d57426fb84f71b5e638a559b
https://surrey.eprints-hosting.org/843214/
https://surrey.eprints-hosting.org/843214/
Autor:
Lopez-Campos, José Luis1,2 (AUTHOR) lcampos@separ.es, Osaba, Lourdes3 (AUTHOR), Czischke, Karen4 (AUTHOR), Jardim, José R.5 (AUTHOR), Fernandez Acquier, Mariano6 (AUTHOR), Ali, Abraham7 (AUTHOR), Günen, Hakan8 (AUTHOR), Rapun, Noelia3 (AUTHOR), Drobnic, Estrella9 (AUTHOR), Miravitlles, Marc2,10 (AUTHOR)
Publikováno v:
Respiratory Research. 6/10/2022, Vol. 23 Issue 1, p1-12. 12p.
Autor:
Lopez-Campos, José Luis, Rapun, Noelia, Czischke, Karen, Jardim, José R., Acquier, Mariano Fernandez, Munive, Abraham Ali, Günen, Hakan, Drobnic, Estrella, Miravitlles, Marc, Osaba, Lourdes
Publikováno v:
Human Genomics; 6/5/2023, Vol. 17 Issue 1, p1-12, 12p
Autor:
Veith, Martina, Klemmer, Andreas, Anton, Iker, Hamss, Rachid El, Rapun, Noelia, Janciauskiene, Sabina, Kotke, Viktor, Herr, Christian, Bals, Robert, Vogelmeier, Claus Franz, Greulich, Timm
Publikováno v:
International Journal of COPD; Nov2019, Vol. 14, p2535-2542, 8p