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1دورية أكاديمية
المؤلفون: Laura Sayol-Torres, Maria Irene Valenzuela, Rosangela Tomasini, Paula Fernández-Alvarez, Maria Clemente, Diego Yeste
المصدر: JCRPE, Vol 15, Iss 2, Pp 205-209 (2023)
مصطلحات موضوعية: prolyl endopeptidase-like, growth hormone deficiency, genetics, Pediatrics, RJ1-570, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
العلاقة: https://jcrpe.org/jvi.aspx?pdir=jcrpe&plng=eng&un=JCRPE-04274&look4Test=; https://doaj.org/toc/1308-5727Test; https://doaj.org/toc/1308-5735Test
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2دورية أكاديمية
المؤلفون: Paula Fernández-Alvarez, María Fernanda Guerra-Veloz, Angel Vilches-Arenas, Patricia Cordero-Ruíz, Francisco Bellido-Muñoz, Angel Caunedo-Alvarez, Isabel Carmona-Soria
المصدر: Viruses, Vol 15, Iss 6, p 1251 (2023)
مصطلحات موضوعية: hepatitis C virus, new direct-acting antivirals, sustained virological response, liver fibrosis, non-invasive serum fibrosis markers, Microbiology, QR1-502
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Diego Yeste, Cristina Aguilar-Riera, Gennaro Canestrino, Paula Fernández-Alvarez, María Clemente, Núria Camats-Tarruella
المصدر: Frontiers in Endocrinology, Vol 13 (2022)
مصطلحات موضوعية: MAMLD1 gene, hypospadias, minipuberty, hypogonadotropic hypogonadism, microphallus, different sex development (DSD), Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fendo.2022.884107/fullTest; https://doaj.org/toc/1664-2392Test
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4دورية أكاديمية
المؤلفون: Charlotte Gehin, Museer A. Lone, Winston Lee, Laura Capolupo, Sylvia Ho, Adekemi M. Adeyemi, Erica H. Gerkes, Alexander P.A. Stegmann, Estrella López-Martín, Eva Bermejo-Sánchez, Beatriz Martínez-Delgado, Christiane Zweier, Cornelia Kraus, Bernt Popp, Vincent Strehlow, Daniel Gräfe, Ina Knerr, Eppie R. Jones, Stefano Zamuner, Luciano A. Abriata, Vidya Kunnathully, Brandon E. Moeller, Anthony Vocat, Samuel Rommelaere, Jean-Philippe Bocquete, Evelyne Ruchti, Greta Limoni, Marine Van Campenhoudt, Samuel Bourgeat, Petra Henklein, Christian Gilissen, Bregje W. van Bon, Rolph Pfundt, Marjolein H. Willemsen, Jolanda H. Schieving, Emanuela Leonardi, Fiorenza Soli, Alessandra Murgia, Hui Guo, Qiumeng Zhang, Kun Xia, Christina R. Fagerberg, Christoph P. Beier, Martin J. Larsen, Irene Valenzuela, Paula Fernández-Álvarez, Shiyi Xiong, Robert Śmigiel, Vanesa López-González, Lluís Armengol, Manuela Morleo, Angelo Selicorni, Annalaura Torella, Moira Blyth, Nicola S. Cooper, Valerie Wilson, Renske Oegema, Yvan Herenger, Aurore Garde, Ange-Line Bruel, Frederic Tran Mau-Them, Alexis B.R. Maddocks, Jennifer M. Bain, Musadiq A. Bhat, Gregory Costain, Peter Kannu, Ashish Marwaha, Neena L. Champaigne, Michael J. Friez, Ellen B. Richardson, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Yask Gupta, Tze Y. Lim, Simone Sanna-Cherchi, Bruno Lemaitre, Toshiyuki Yamaji, Kentaro Hanada, John E. Burke, Ana Marjia Jakšić, Brian D. McCabe, Paolo De Los Rios, Thorsten Hornemann, Giovanni D’Angelo, Vincenzo A. Gennarino
المصدر: The Journal of Clinical Investigation, Vol 133, Iss 10 (2023)
مصطلحات موضوعية: Cell biology, Genetics, Medicine
العلاقة: https://doi.org/10.1172/JCI165019Test; https://doaj.org/toc/1558-8238Test; https://doaj.org/article/47a113198d5649e88315ddec99f2067fTest
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5دورية أكاديمية
المؤلفون: Luca Persani, Martine Cools, Stamatina Ioakim, S Faisal Ahmed, Silvia Andonova, Magdalena Avbelj-Stefanija, Federico Baronio, Jerome Bouligand, Hennie T Bruggenwirth, Justin H Davies, Elfride De Baere, Iveta Dzivite-Krisane, Paula Fernandez-Alvarez, Alexander Gheldof, Claudia Giavoli, Claus H Gravholt, Olaf Hiort, Paul-Martin Holterhus, Anders Juul, Csilla Krausz, Kristina Lagerstedt-Robinson, Ruth McGowan, Uta Neumann, Antonio Novelli, Xavier Peyrassol, Leonidas A Phylactou, Julia Rohayem, Philippe Touraine, Dineke Westra, Valeria Vezzoli, Raffaella Rossetti
المساهمون: L. Persani, M. Cool, S. Ioakim, S. Faisal Ahmed, S. Andonova, M. Avbelj-Stefanija, F. Baronio, J. Bouligand, H. T Bruggenwirth, J. H Davie, E. De Baere, I. Dzivite-Krisane, P. Fernandez-Alvarez, A. Gheldof, C. Giavoli, C. H Gravholt, O. Hiort, P. Holterhu, A. Juul, C. Krausz, K. Lagerstedt-Robinson, R. Mcgowan, U. Neumann, A. Novelli, X. Peyrassol, L. A Phylactou, J. Rohayem, P. Touraine, D. Westra, V. Vezzoli, R. Rossetti
مصطلحات موضوعية: congenital hypogonadotropic hypogonadism, disorders of sex development, next-generation sequencing, primary ovarian insufficiency, rare diseases or syndromes, Settore MED/13 - Endocrinologia
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36228316; info:eu-repo/semantics/altIdentifier/wos/WOS:000904170800014; volume:11; issue:12; firstpage:1; lastpage:7; numberofpages:7; journal:ENDOCRINE CONNECTIONS; https://hdl.handle.net/2434/971730Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85143912696
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6
المؤلفون: Diego Yeste, Maria Irene Valenzuela, Rosangela Tomasini, Maria Grazia Clemente, Paula Fernández-Alvarez, Laura Sayol-Torres
المصدر: Journal of Clinical Research in Pediatric Endocrinology. 15:205-209
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Endocrinology, Diabetes and Metabolism, medicine.disease, Phenotype, Growth hormone deficiency, Endocrinology, Hypergonadotropic hypogonadism, Neonatal hypotonia, Prolyl endopeptidase, Internal medicine, Pediatrics, Perinatology and Child Health, Genotype, medicine, Allele, business, medicine.drug, Congenital disorder
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5be43545fa75479ea7707216e62eec31Test
https://doi.org/10.4274/jcrpe.galenos.2021.2021.0128Test -
7دورية أكاديمية
المؤلفون: Maite Calucho, Silvia Gartner, Paula Barranco, Paula Fernández-Álvarez, Raquel García Pérez, Eduardo F. Tizzano
المصدر: Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
العلاقة: https://doi.org/10.1038/s41598-021-94798-xTest; https://doaj.org/toc/2045-2322Test; https://doaj.org/article/ceebc254ff6749ddae89f16c9505710eTest
الإتاحة: https://doi.org/10.1038/s41598-021-94798-xTest
https://doaj.org/article/ceebc254ff6749ddae89f16c9505710eTest -
8
المؤلفون: Yoeri Sleyp, Irene Valenzuela, Andrea Accogli, Katleen Ballon, Bruria Ben-Zeev, Samuel F. Berkovic, Martin Broly, Patrick Callaerts, Raymond C. Caylor, Perrine Charles, Nicolas Chatron, Lior Cohen, Antonietta Coppola, Dawn Cordeiro, Claudia Cuccurullo, Ivon Cuscó, null Janette diMonda, Ramon Duran-Romaña, Nina Ekhilevitch, Paula Fernández-Alvarez, Christopher T. Gordon, Bertrand Isidor, Boris Keren, Gaetan Lesca, Jarymke Maljaars, Saadet Mercimek-Andrews, Michelle M. Morrow, Alison M. Muir, Frederic Rousseau, Vincenzo Salpietro, Ingrid E. Scheffer, Rhonda E. Schnur, Joost Schymkowitz, Erika Souche, Jean Steyaert, Elliot S. Stolerman, Jaime Vengoechea, Dorothée Ville, Camerun Washington, Karin Weiss, Rinat Zaid, Lynette G. Sadleir, Heather C. Mefford, Hilde Peeters
المصدر: Genetics in Medicine. 24:2464-2474
مصطلحات موضوعية: Epilepsy, Autism Spectrum Disorder, Developmental Disabilities, Intellectual Disability, Ubiquitin-Protein Ligases, Mutation, Missense, Humans, Child, Seizures, Febrile, Genetics (clinical), Adaptor Proteins, Signal Transducing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef8667d6e12377ca40b4af5f3614b402Test
https://doi.org/10.1016/j.gim.2022.08.020Test -
9دورية أكاديمية
المؤلفون: Efstathios Katharopoulos, Natascia Di Iorgi, Paula Fernandez-Alvarez, Amit V. Pandey, Michael Groessl, Shraddha Dubey, Núria Camats, Flavia Napoli, Giuseppa Patti, Marilea Lezzi, Mohamad Maghnie, Christa E. Flück
المصدر: International Journal of Molecular Sciences; Volume 21; Issue 17; Pages: 6185
مصطلحات موضوعية: adrenal insufficiency, StAR, steroidogenic acute regulatory protein, lipoid congenital adrenal hyperplasia, rare disease
جغرافية الموضوع: agris
وصف الملف: application/pdf
العلاقة: Molecular Biology; https://dx.doi.org/10.3390/ijms21176185Test
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10
المؤلفون: Laura, Sayol-Torres, Maria Irene, Valenzuela, Rosangela, Tomasini, Paula, Fernández-Alvarez, Maria, Clemente, Diego, Yeste
المصدر: Journal of clinical research in pediatric endocrinology.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::473c5a5601aaa7ee5bf177585cb2f20cTest
https://pubmed.ncbi.nlm.nih.gov/34693706Test