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1دورية أكاديمية
المؤلفون: Brieghel, C, Galle, V, Agius, R, Da Cunha-Bang, C, Andersen, MA, Vlummens, P, Mattsson, M, Rosenquist, R, Smedby, KE, Herling, CD, Bahlo, J, Hallek, M, Lundgren, JD, Offner, F, Niemann, CU
المصدر: European journal of haematology. 108(5):369-378
مصطلحات موضوعية: Medicin och hälsovetenskap
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2دورية أكاديمية
المؤلفون: Mathew Wallis, Simon D. Bodek, Jacob Munro, Haloom Rafehi, Mark F. Bennett, Zimeng Ye, Amy Schneider, Fiona Gardiner, Giulia Valente, Emma Murdoch, Eloise Uebergang, Jacquie Hunter, Chloe Stutterd, Aamira Huq, Lucinda Salmon, Ingrid Scheffer, Dhamidhu Eratne, Stephen Meyn, Chun Y. Fong, Tom John, Saul Mullen, Susan M. White, Natasha J. Brown, George McGillivray, Jesse Chen, Chris Richmond, Andrew Hughes, Emma Krzesinski, Andrew Fennell, Brian Chambers, Renee Santoreneos, Anna Le Fevre, Michael S. Hildebrand, Melanie Bahlo, John Christodoulou, Martin Delatycki, Samuel F. Berkovic
المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-14 (2024)
مصطلحات موضوعية: Rare disease, Genome sequencing, Mosaicism, Genotype, Phenotype, Undiagnosed disease, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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3دورية أكاديمية
المؤلفون: Andrea Cortese, Sarah J. Beecroft, Stefano Facchini, Riccardo Curro, Macarena Cabrera-Serrano, Igor Stevanovski, Sanjog R. Chintalaphani, Hasindu Gamaarachchi, Ben Weisburd, Chiara Folland, Gavin Monahan, Carolin K. Scriba, Lein Dofash, Mridul Johari, Bianca R. Grosz, Melina Ellis, Liam G. Fearnley, Rick Tankard, Justin Read, Ashirwad Merve, Natalia Dominik, Elisa Vegezzi, Ricardo P. Schnekenberg, Gorka Fernandez-Eulate, Marion Masingue, Diane Giovannini, Martin B. Delatycki, Elsdon Storey, Mac Gardner, David J. Amor, Garth Nicholson, Steve Vucic, Robert D. Henderson, Thomas Robertson, Jason Dyke, Vicki Fabian, Frank Mastaglia, Mark R. Davis, Marina Kennerson, OPDM study group, Ros Quinlivan, Simon Hammans, Arianna Tucci, Melanie Bahlo, Catriona A. McLean, Nigel G. Laing, Tanya Stojkovic, Henry Houlden, Michael G. Hanna, Ira W. Deveson, Paul J. Lockhart, Phillipa J. Lamont, Michael C. Fahey, Enrico Bugiardini, Gianina Ravenscroft
المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-15 (2024)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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4دورية أكاديمية
المؤلفون: Rhett G. Marchant, Samantha J. Bryen, Melanie Bahlo, Anita Cairns, Katherine R. Chao, Alastair Corbett, Mark R. Davis, Vijay S. Ganesh, Roula Ghaoui, Kristi J. Jones, Andrew J. Kornberg, Monkol Lek, Christina Liang, Daniel G. MacArthur, Emily C. Oates, Anne O'Donnell‐Luria, Gina L. O'Grady, Ikeoluwa A. Osei‐Owusu, Haloom Rafehi, Stephen W. Reddel, Richard H. Roxburgh, Monique M. Ryan, Sarah A. Sandaradura, Liam W. Scott, Elise Valkanas, Ben Weisburd, Helen Young, Frances J. Evesson, Leigh B. Waddell, Sandra T. Cooper
المصدر: Annals of Clinical and Translational Neurology, Vol 11, Iss 5, Pp 1250-1266 (2024)
مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2328-9503
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5دورية أكاديمية
المؤلفون: Denis M. Nyaga, Michael S. Hildebrand, Guillem deValles‐Ibáñez, Ngaire F. Keenan, Zimeng Ye, Christy W. LaFlamme, Heather C. Mefford, Mark F. Bennett, Melanie Bahlo, Lynette G. Sadleir
المصدر: Epilepsia Open, Vol 9, Iss 2, Pp 758-764 (2024)
مصطلحات موضوعية: genetic testing, PAFAH1B1, SCN1A, SNP arrays, structural variants, whole‐genome sequencing, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2470-9239
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6دورية أكاديمية
المؤلفون: Jaramillo, S, Agathangelidis, A, Schneider, C, Bahlo, J, Robrecht, S, Tausch, E, Bloehdorn, J, Hoechstetter, M, Fischer, K, Eichhorst, B, Goede, V, Hallek, M, Dohner, H, Rosenquist, R, Ghia, P, Stamatopoulos, K, Stilgenbauer, S
المصدر: Haematologica. 105(11):2598-2607
مصطلحات موضوعية: Medicin och hälsovetenskap
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7دورية أكاديمية
المؤلفون: Condoluci, A, di Bergamo, LT, Langerbeins, P, Hoechstetter, MA, Herling, CD, De Paoli, L, Delgado, J, Rabe, KG, Gentile, M, Doubek, M, Mauro, FR, Chiodin, G, Mattsson, M, Bahlo, J, Cutrona, G, Kotaskova, J, Deambrogi, C, Smedby, KE, Spina, V, Bruscaggin, A, Wu, W, Moia, R, Bianchi, E, Gerber, B, Zucca, E, Gillessen, S, Ghielmini, M, Cavalli, F, Stussi, G, Hess, MA, Baumann, TS, Neri, A, Ferrarini, M, Rosenquist, R, Forconi, F, Foa, R, Pospisilova, S, Morabito, F, Stilgenbauer, S, Dohner, H, Parikh, SA, Wierda, WG, Montserrat, E, Gaidano, G, Hallek, M, Rossi, D
المصدر: Blood. 135(21):1859-1869
مصطلحات موضوعية: Medicin och hälsovetenskap
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8دورية أكاديمية
المؤلفون: Samaneh Farashi, PhD, Roberto Bonelli, PhD, Victoria E. Jackson, PhD, Brendan R.E. Ansell, PhD, Robyn H. Guymer, MBBS, PhD, Melanie Bahlo, PhD
المصدر: Ophthalmology Science, Vol 4, Iss 5, Pp 100535- (2024)
مصطلحات موضوعية: Age-related macular degeneration, Circulating metabolites, Genome-wide association studies, Mendelian randomization, Ophthalmology, RE1-994
وصف الملف: electronic resource
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9دورية أكاديمية
المؤلفون: Bernhard, Benedikt, Tanner, Giulin, Garachemani, Davide, Schnyder, Aaron, Fischer, Kady, Huber, Adrian T., Safarkhanlo, Yasaman, Stark, Anselm W., Guensch, Dominik P., Schütze, Jonathan, Greulich, Simon, Bastiaansen, Jessica A. M., Pavlicek-Bahlo, Maryam, Benz, Dominik C., Kwong, Raymond Y., Gräni, ChristophAff1, IDs12968023009576_cor16
المصدر: Journal of Cardiovascular Magnetic Resonance. 25(1)
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10دورية أكاديمية
المؤلفون: Farashi, Samaneh, Bonelli, Roberto, Jackson, Victoria E., Ansell, Brendan R.E., Guymer, Robyn H., Bahlo, Melanie
المصدر: In Ophthalmology Science September-October 2024 4(5)