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1دورية أكاديمية
المؤلفون: B. Ciacchini, G. Di Nardo, M. Marin, E. Borali, M. Caraccia, R. Mogni, F. Cairello, I. Rabbone, G. B Ferrero, A. Pini Prato, E. Felici
المصدر: Frontiers in Pediatrics, Vol 11 (2023)
مصطلحات موضوعية: pediatric, gastroenterology, cardio-facio-cutaneous syndrome (CFCS), nutrition, surgery, Pediatrics, RJ1-570
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: M. P. Boaro, R. Biondi, N. Biondini, A. Collado Gimbert, E. F. JM, V. Pinto, N. Romano, V. Voi, G. B. Ferrero, M. Casale, M. Cirillo, G. Palazzi, F. Cavalleri, G. L. Forni, G. Reggiani, S. Perrotta, M. Manu Pereira, S. Zazo, K. Marias, M. De Montalembert, P. Bartolucci, E. van Beers, F. Alvarez, F. Cremonesi, T. Sanavia, P. Fariselli, G. Castellani, R. Manara, R. Colombatti
المصدر: HemaSphere, Vol 6, Pp 166-167 (2022)
مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5
وصف الملف: electronic resource
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المؤلفون: Kathleen Rooney, Liselot van der Laan, Slavica Trajkova, Sadegheh Haghshenas, Raissa Relator, Peter Lauffer, Niels Vos, Michael A. Levy, Nicola Brunetti-Pierri, Gaetano Terrone, Cyril Mignot, Boris Keren, Thierry B. de Villemeur, Catharina M.L. Volker-Touw, Nienke Verbeek, Jasper J. van der Smagt, Renske Oegema, Alfredo Brusco, Giovanni B. Ferrero, Mala Misra-Isrie, Ron Hochstenbach, Mariëlle Alders, Marcel M.A.M. Mannens, Bekim Sadikovic, Mieke M. van Haelst, Peter Henneman
المساهمون: Human genetics, Amsterdam Reproduction & Development (AR&D), Amsterdam Neuroscience - Complex Trait Genetics, Rooney, Kathleen, van der Laan, Liselot, Trajkova, Slavica, Haghshenas, Sadegheh, Relator, Raissa, Lauffer, Peter, Vos, Niel, Levy, Michael A, Brunetti-Pierri, Nicola, Terrone, Gaetano, Mignot, Cyril, Keren, Bori, Billette de Villemeur, Thierry, Volker-Touw, Catharina M L, Verbeek, Nienke, van der Smagt, Jasper J, Oegema, Renske, Brusco, Alfredo, Ferrero, Giovanni Battista, Misra-Isrie, Mala, Hochstenbach, Ron, Alders, Mariëlle, Mannens, Marcel M A M, Sadikovic, Bekim, van Haelst, Mieke M, Henneman, Peter
المصدر: Rooney, K, van der Laan, L, Trajkova, S, Haghshenas, S, Relator, R, Lauffer, P, Vos, N, Levy, M A, Brunetti-Pierri, N, Terrone, G, Mignot, C, Keren, B, de Villemeur, T B, Volker-Touw, C M L, Verbeek, N, van der Smagt, J J, Oegema, R, Brusco, A, Ferrero, G B, Misra-Isrie, M, Hochstenbach, R, Alders, M, Mannens, M M A M, Sadikovic, B, van Haelst, M M & Henneman, P 2023, ' DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder ', Genetics in Medicine, vol. 25, no. 8, 100871 . https://doi.org/10.1016/j.gim.2023.100871
Genetics in Medicine, 25(8):100871. Lippincott Williams and Wilkinsمصطلحات موضوعية: DNA methylation, Epilepsy, HNRNPU, Neurodevelopmental Disorder, CNV, Intellectual disability, Epigenetic, Epigenetics, Episignature, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b39a7c8d2d6a6e8f7ab2a18415690426
https://research.vumc.nl/en/publications/51994147-a11d-4536-a701-74fa408fd4a8 -
4دورية أكاديمية
المؤلفون: Giulio Calcagni, Giuseppe Limongelli, Angelo D'Ambrosio, Francesco Gesualdo, Maria Cristina Digilio, Anwar Baban, Sonia B. Albanese, Paolo Versacci, Enrica De Luca, Giovanni B. Ferrero, Giuseppina Baldassarre, Gabriella Agnoletti, Elena Banaudi, Jan Marek, Juan P. Kaski, Giulia Tuo, Maria Giovanna Russo, Giuseppe Pacileo, Ornella Milanesi, Daniela Messina, Maurizio Marasini, Francesca Cairello, Roberto Formigari, Maurizio Brighenti, Bruno Dallapiccola, Marco Tartaglia, Bruno Marino
المصدر: Data in Brief, Vol 16, Iss , Pp 649-654 (2018)
مصطلحات موضوعية: Computer applications to medicine. Medical informatics, R858-859.7, Science (General), Q1-390
وصف الملف: electronic resource
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المؤلفون: Amy Hardcastle, Aliska M. Berry, Ian M. Campbell, Xiaonan Zhao, Pengfei Liu, Amanda E. Gerard, Jill A. Rosenfeld, Saumya D. Sisoudiya, Andres Hernandez‐Garcia, Sara Loddo, Silvia Di Tommaso, Antonio Novelli, Maria L. Dentici, Rossella Capolino, Maria C. Digilio, Ludovico Graziani, Cecilie F. Rustad, Katherine Neas, Giovanni B. Ferrero, Alfredo Brusco, Eleonora Di Gregorio, Diana Wellesley, Claire Beneteau, Madeleine Joubert, Kris Van Den Bogaert, Anneleen Boogaerts, Dominic J. McMullan, John Dean, Maria G. Giuffrida, Laura Bernardini, Vinod Varghese, Nora L. Shannon, Rachel E. Harrison, Wayne W. K. Lam, Shane McKee, Peter D. Turnpenny, Trevor Cole, Jenny Morton, Jacqueline Eason, Marilyn C. Jones, Rebecca Hall, Michael Wright, Karen Horridge, Chad A. Shaw, Wendy K. Chung, Daryl A. Scott
المصدر: American Journal of Medical Genetics Part A. 188:2958-2968
مصطلحات موضوعية: DNA Copy Number Variations, Diaphragm, USP9X, CREBBP, DECIPHER database, SMARCA4, UBA2, congenital diaphragmatic hernia, Mice, Genetics, Animals, Hernias, Diaphragmatic, Congenital, Genetics (clinical)
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المؤلفون: C. M. Wolf, M. Zenker, O. Boleti, G. Norrish, M. Russell, J. K. Meisner, D. M. Peng, T. Prendiville, J. Kleinmahon, P. Kantor, S. D. Gottlieb, D. Human, P. Ewert, M. Krueger, D. Reber, B. Donner, C. Hart, I. O. Komazec, S. Rupp, A. Hahn, A. Hanser, J. M. Draaisma, C. F.E. Ten, A. Mussa, G. B. Ferrero, L. Vaujois, M. J. Raboisson, C. Marquis, Y. Théoret, S. Bogarapu, A. Dancea, H. M. Moller, M. Kemna, J. P. Kaski, B. D. Gelb, G. Andelfinger
المصدر: The Thoracic and Cardiovascular Surgeon.
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6054f6d9ac8ecef12fc51674f1bed5db
https://doi.org/10.1055/s-0043-1761854 -
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المؤلفون: Alessia Ciancio, Massimo Porta, Giorgio Maria Saracco, Maria M. Zanone, Lorena Charrier, Federica Zardo, Emanuela Spagone, B. Ferrero, Franco Cavallo, Cristina Cerruti, Dario Cocito, Claudia Marinucci
المصدر: Liver International
مصطلحات موضوعية: hepatitis C virus, medicine.medical_specialty, peripheral neuropathy, Carcinoma, Hepatocellular, direct-acting antiviral agents, Viral Hepatitis, Neurological examination, Antiviral Agents, cryoglobulinemia, Internal medicine, quality of life, Medicine, Humans, Longitudinal Studies, Prospective Studies, Prospective cohort study, Subclinical infection, direct‐acting antiviral agents, Aged, Hepatology, medicine.diagnostic_test, business.industry, Liver Neoplasms, Peripheral Nervous System Diseases, Hepatitis C, Chronic, Middle Aged, medicine.disease, Hepatitis C, Peripheral neuropathy, Cohort, Neuropathic pain, Original Article, business, Complication, Viral load
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المؤلفون: Maggie MK Wong, Rosalie A Kampen, Ruth O Braden, Gökberk Alagöz, Michael S Hildebrand, Christopher Barnett, Meghan Barnett, Alfredo Brusco, Diana Carli, Bert BA de Vries, Alexander JM Dingemans, Frances Elmslie, Giovanni B Ferrero, Nadieh A Jansen, Ingrid MBH van de Laar, Alice Moroni, David Mowat, Lucinda Murray, Francesca Novara, Angela Peron, Ingrid E Scheffer, Fabio Sirchia, Samantha J Turner, Aglaia Vignoli, Arianna Vino, Sacha Weber, Wendy K Chung, Marion Gerard, Vanessa López-González, Elizabeth Palmer, Angela T Morgan, Bregje W van Bon, Simon E Fisher
المصدر: medRxiv
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d78967a32ce84431daf9ab39c0fd6033
https://hdl.handle.net/21.11116/0000-000B-3051-321.11116/0000-000B-304F-7 -
9دورية أكاديمية
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المؤلفون: C A P F, Alves, O, Sherbini, F, D'Arco, D, Steel, M A, Kurian, F C, Radio, G B, Ferrero, D, Carli, M, Tartaglia, T B, Balci, N N, Powell-Hamilton, S A, Schrier Vergano, H, Reutter, J, Hoefele, R, Günthner, E R, Roeder, R O, Littlejohn, D, Lessel, S, Lüttgen, C, Kentros, K, Anyane-Yeboa, C B, Catarino, S, Mercimek-Andrews, J, Denecke, M J, Lyons, T, Klopstock, E J, Bhoj, L, Bryant, A, Vanderver
المصدر: AJNR Am J Neuroradiol
مصطلحات موضوعية: Histones, Male, Malformations of Cortical Development, Germ Cells, Brain Neoplasms, Neurodevelopmental Disorders, Brain, Humans, Child, Pediatrics, Retrospective Studies
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::c6f69be64d696465acd1ca5e53ef325a
https://pubmed.ncbi.nlm.nih.gov/35772801
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