المؤلفون: Lisa Bianco, Anna Sabaté-Rotés, Alba Torrent-Vernetta, Pedro Betrián-Blasco

المصدر: REC: Interventional Cardiology (English Ed.), Vol 5, Iss 4, Pp 304-305 (2023)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

العلاقة: https://recintervcardiol.org/en/index.php?option=com_content&view=article&id=1121Test; https://doaj.org/toc/2604-7322Test

الوصول الحر: https://doaj.org/article/439ffbf95d344c54aa8a6d5fa2cd45e4Test

المؤلفون: Lisa Bianco, Anna Sabaté-Rotés, Alba Torrent-Vernetta, Pedro Betrián-Blasco

المصدر: REC: Interventional Cardiology, Vol 5, Iss 4, Pp 304-305 (2023)

مصطلحات موضوعية: Internal medicine, RC31-1245

وصف الملف: electronic resource

العلاقة: https://recintervcardiol.org/es/index.php?option=com_content&view=article&id=1135Test; https://doaj.org/toc/2604-7276Test

الوصول الحر: https://doaj.org/article/ab07565d91844ccca7063264f3a52bd9Test

المؤلفون: Alejandro Cruz-Utrilla, Natalia Gallego-Zazo, Jair Antonio Tenorio-Castaño, Inmaculada Guillén, Alba Torrent-Vernetta, Amparo Moya-Bonora, Carlos Labrandero, María Elvira Garrido-Lestache Rodríguez-Monte, Alejandro Rodríguez-Ogando, María del Mar Rodríguez Vázquez Del Rey, Juana Espín, Beatriz Plata-Izquierdo, María Álvarez-Fuente, Antonio Moreno-Galdó, Pilar Escribano-Subias, María Jesús Del Cerro Marín

المصدر: International Journal of Molecular Sciences, Vol 23, Iss 18, p 10433 (2022)

مصطلحات موضوعية: pediatric pulmonary hypertension, genetics, heritable pulmonary arterial hypertension, pulmonary veno-occlusive disease, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/1422-0067/23/18/10433Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test

الوصول الحر: https://doaj.org/article/0b00898b6d424a2d8b005299fac1ac6aTest

المؤلفون: Noelia Baz-Redón, Sandra Rovira-Amigo, Mónica Fernández-Cancio, Silvia Castillo-Corullón, Maria Cols, M. Araceli Caballero-Rabasco, Óscar Asensio, Carlos Martín de Vicente, Maria del Mar Martínez-Colls, Alba Torrent-Vernetta, Inés de Mir-Messa, Silvia Gartner, Ignacio Iglesias-Serrano, Ana Díez-Izquierdo, Eva Polverino, Esther Amengual-Pieras, Rosanel Amaro-Rodríguez, Montserrat Vendrell, Marta Mumany, María Teresa Pascual-Sánchez, Belén Pérez-Dueñas, Ana Reula, Amparo Escribano, Francisco Dasí, Miguel Armengot-Carceller, Marta Garrido-Pontnou, Núria Camats-Tarruella, Antonio Moreno-Galdó

المصدر: Journal of Clinical Medicine, Vol 9, Iss 11, p 3603 (2020)

مصطلحات موضوعية: cilia, primary ciliary dyskinesia, PCD, immunofluorescence, antibody, Medicine

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2077-0383/9/11/3603Test; https://doaj.org/toc/2077-0383Test

الوصول الحر: https://doaj.org/article/d4fb34260b8043478c67cee5c287a436Test

المؤلفون: Yang Li, Elias Seidl, Katrin Knoflach, Florian Gothe, Maria Elisabeth Forstner, Katarzyna Michel, Ingo Pawlita, Florian Gesenhues, Franziska Sattler, Xiaohua Yang, Carolin Kroener, Simone Reu-Hofer, Julia Ley-Zaporozhan, Birgit Kammer, Ingrid Krüger-Stollfuß, Julien Dinkel, Julia Carlens, Martin Wetzke, Antonio Moreno-Galdó, Alba Torrent-Vernetta, Joanna Lange, Katarzyna Krenke, Nisreen Rumman, Sarah Mayell, Tugba Sismanlar, Ayse Aslan, Nicolas Regamey, Marijke Proesmans, Florian Stehling, Lutz Naehrlich, Kilinc Ayse, Sebastian Becker, Cordula Koerner-Rettberg, Erika Plattner, Effrosyni D Manali, Spyridon A Papiris, Ilaria Campo, Matthias Kappler, Nicolaus Schwerk, Matthias Griese

مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Medizin, ddc:610

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::345af061d5d8a30e301c537e2228edc6Test
https://opus4.kobv.de/opus4-fau/frontdoor/index/index/docId/23188Test

المؤلفون: Alejandro Cruz-Utrilla, Natalia Gallego, Alba Torrent-Vernetta, Inmaculada Guillén, María Pilar Escribano Subias, María Jesús del Cerro Marín

المصدر: Revista Española de Cardiología (English Edition). 75:448-450

مصطلحات موضوعية: General Medicine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e696d79047f0a1a5866e987482891ec4Test
https://doi.org/10.1016/j.rec.2021.12.006Test

المؤلفون: Florent Delhommel, Michael Gerstlauer, Maximilian Hastreiter, Maria Forstner, Meino Rohlfs, Tim Jeske, Christina K Rapp, Alba Torrent-Vernetta, Antonio Moreno-Galdó, Birgit Kammer, Nagehan Emiralioglu, Marisa I. Mendes, Yang Li, Michael Sattler, Desirée E.C. Smith, Diclehan Orhan, Matthias Griese, Luise A. Schuch, Frank Brasch, Nural Kiper, Simone Reu-Hofer, Ekim Z. Taskiran

المساهمون: Laboratory Medicine, AGEM - Endocrinology, metabolism and nutrition, AGEM - Inborn errors of metabolism, Amsterdam Neuroscience - Cellular & Molecular Mechanisms

المصدر: Clinical Genetics, 99(6), 789-801. Wiley-Blackwell
Schuch, L A, Forstner, M, Rapp, C K, Li, Y, Smith, D E C, Mendes, M I, Delhommel, F, Sattler, M, Emiralioğlu, N, Taskiran, E Z, Orhan, D, Kiper, N, Rohlfs, M, Jeske, T, Hastreiter, M, Gerstlauer, M, Torrent-Vernetta, A, Moreno-Galdó, A, Kammer, B, Brasch, F, Reu-Hofer, S & Griese, M 2021, ' FARS1-related disorders caused by bi-allelic mutations in cytosolic phenylalanyl-tRNA synthetase genes : Look beyond the lungs! ', Clinical Genetics, vol. 99, no. 6, pp. 789-801 . https://doi.org/10.1111/cge.13943Test

مصطلحات موضوعية: Male, 0301 basic medicine, Adolescent, Genes, Recessive, Aminoacylation, 030105 genetics & heredity, Biology, 03 medical and health sciences, chemistry.chemical_compound, Charcot-Marie-Tooth Disease, Genetics, Protein biosynthesis, Humans, Missense mutation, ddc:610, Allele, Child, Lung, Gene, Alleles, Genetics (clinical), G alpha subunit, Aminoacyl tRNA synthetase, Infant, Newborn, Infant, Translation (biology), Pedigree, ddc, Phenotype, 030104 developmental biology, chemistry, Child, Preschool, Mutation, Female, Phenylalanine-tRNA Ligase, Lung Diseases, Interstitial

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f5fab26fa1d0a162b6e323085ef2387Test
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85101856190&origin=inwardTest

المؤلفون: Ignacio Iglesias Serrano, María Cols Roig, Rosanel Amaro-Rodríguez, Amparo Escribano, Marta Garrido-Pontnou, Mónica Fernández-Cancio, Esther Amengual Pieras, Eduardo F. Tizzano, Silvia Gartner, Carlos Martín de Vicente, Ana Reula, Francisco Dasí, Eva Polverino, M. Araceli Caballero-Rabasco, Inés de Mir Messa, María del Mar Martínez-Colls, Gerardo Vizmanos-Lamotte, Antonio Moreno-Galdó, Núria Camats-Tarruella, Elena García Arumí, Óscar Asensio de la Cruz, Silvia Castillo-Corullón, Miguel Armengot-Carceller, Noelia Baz-Redón, Ida Paramonov, Alba Torrent-Vernetta, María Antolín, Sandra Rovira-Amigo

المصدر: Archivos de Bronconeumología. 57:186-194

مصطلحات موضوعية: Pulmonary and Respiratory Medicine, business.industry, Medicine, business, Humanities

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::892700d887c0ab27236cf60d1e1b3898Test
https://doi.org/10.1016/j.arbres.2020.02.010Test

المؤلفون: Alba Torrent-Vernetta, Inés de Mir Messa, Silvia Castillo-Corullón, Sandra Rovira-Amigo, Amparo Escribano, Marta Garrido-Pontnou, Esther Amengual Pieras, Óscar Asensio de la Cruz, Ignacio Iglesias-Serrano, Noelia Baz-Redón, Mónica Fernández-Cancio, Eduardo F. Tizzano, Ana Reula, Rosanel Amaro-Rodríguez, Carlos Martín de Vicente, Silvia Gartner, Gerardo Vizmanos-Lamotte, Francisco Dasí, Eva Polverino, Núria Camats-Tarruella, María del Mar Martínez-Colls, Elena García-Arumí, Ida Paramonov, Antonio Moreno-Galdó, Miguel Armengot-Carceller, M. Araceli Caballero-Rabasco, María Antolín, Maria Cols-Roig

المصدر: Archivos de Bronconeumología (English Edition). 57:186-194

مصطلحات موضوعية: business.industry, General Medicine, medicine.disease, Compound heterozygosity, Bioinformatics, 03 medical and health sciences, 0302 clinical medicine, 030228 respiratory system, Gene panel, Cohort, otorhinolaryngologic diseases, Medicine, Genetic diagnosis, business, Gene, Primary ciliary dyskinesia

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a637426f3354de6c8bf3addd96c14b0bTest
https://doi.org/10.1016/j.arbr.2021.01.003Test

المؤلفون: Alejandro Cruz-Utrilla, Natalia Gallego, Alba Torrent-Vernetta, Inmaculada Guillén, María Pilar Escribano Subias, María Jesús del Cerro Marín

المصدر: Revista Española de Cardiología. 75:449-450

مصطلحات موضوعية: Cardiology and Cardiovascular Medicine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a72df7cc2e278b97213e68045cbf0abdTest
https://doi.org/10.1016/j.recesp.2021.11.003Test