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1دورية أكاديمية
المؤلفون: Larissa Bilo, Eguzkine Ochoa, Sunwoo Lee, Daniela Dey, Ingo Kurth, Florian Kraft, Fay Rodger, France Docquier, Ana Toribio, Leonardo Bottolo, Gerhard Binder, György Fekete, Miriam Elbracht, Eamonn R. Maher, Matthias Begemann, Thomas Eggermann
المصدر: Clinical Epigenetics, Vol 15, Iss 1, Pp 1-12 (2023)
مصطلحات موضوعية: Beckwith–Wiedemann syndrome, Silver–Russell syndrome, Multilocus imprinting disturbances, Maternal effect variants, ImprintSeq, MS-MLPA, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1868-7083
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3دورية أكاديمية
المؤلفون: Charlotte Carton, D. Gareth Evans, Ignacio Blanco, Reinhard E. Friedrich, Rosalie E. Ferner, Said Farschtschi, Hector Salvador, Amedeo A. Azizi, Victor Mautner, Claas Röhl, Sirkku Peltonen, Stavros Stivaros, Eric Legius, Rianne Oostenbrink, Joan Brunet, Frank Van Calenbergh, Catherine Cassiman, Thomas Czech, María José Gavarrete de León, Henk Giele, Susie Henley, Conxi Lazaro, Vera Lipkovskaya, Eamonn R. Maher, Vanessa Martin, Irene Mathijssen, Enrico Opocher, Ana Elisabete Pires, Thomas Pletschko, Eirene Poupaki, Vita Ridola, Andre Rietman, Thorsten Rosenbaum, Alastair Santhouse, Astrid Sehested, Ian Simmons, Walter Taal, Anja Wagner
المصدر: EClinicalMedicine, Vol 56, Iss , Pp 101818- (2023)
مصطلحات موضوعية: Guideline, Neurofibromatosis type 1, Tumour predisposing syndrome, Management, Medicine (General), R5-920
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Luigi Aloj, Olivier Giger, Iosif A. Mendichovszky, Ben G. Challis, Meytar Ronel, Ines Harper, Heok Cheow, Rogier ten Hoopen, Deborah Pitfield, Ferdia A. Gallagher, Bala Attili, Mary McLean, Robin L. Jones, Palma Dileo, Venkata Ramesh Bulusu, Eamonn R. Maher, Ruth T. Casey
المصدر: EJNMMI Research, Vol 11, Iss 1, Pp 1-10 (2021)
مصطلحات موضوعية: Medical physics. Medical radiology. Nuclear medicine, R895-920
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2191-219X
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5دورية أكاديمية
المؤلفون: Thomas Eggermann, Eamonn R. Maher, Christian P. Kratz, Dirk Prawitt
المصدر: Cancers, Vol 14, Iss 13, p 3083 (2022)
مصطلحات موضوعية: Beckwith–Wiedemann syndrome spectrum, tumor, genomic imprinting, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Ruth T. Casey, Rogier ten Hoopen, Eguzkine Ochoa, Benjamin G. Challis, James Whitworth, Philip S. Smith, Jose Ezequiel Martin, Graeme R. Clark, Fay Rodger, Mel Maranian, Kieren Allinson, Basetti Madhu, Thomas Roberts, Luis Campos, Joanne Anstee, Soo-Mi Park, Alison Marker, Colin Watts, Venkata R. Bulusu, Olivier T. Giger, Eamonn R. Maher
المصدر: Scientific Reports, Vol 9, Iss 1, Pp 1-10 (2019)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2045-2322
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7دورية أكاديمية
المؤلفون: Hugh Furness, Louay Salfity, Johanna Devereux, Dorothy Halliday, Helen Hanson, Deborah M. Ruddy, UK VHL Study Group, Neha Shah, George Sultana, Emma R. Woodward, Richard N. Sandford, Katie M. Snape, Eamonn R. Maher
المصدر: Genes, Vol 12, Iss 9, p 1414 (2021)
مصطلحات موضوعية: haemangioblastoma, renal cell carcinoma, genetics, VHL, Genetics, QH426-470
وصف الملف: electronic resource
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8دورية أكاديمية
المؤلفون: Vagheesh M. Narasimhan, Raheleh Rahbari, Aylwyn Scally, Arthur Wuster, Dan Mason, Yali Xue, John Wright, Richard C. Trembath, Eamonn R. Maher, David A. van Heel, Adam Auton, Matthew E. Hurles, Chris Tyler-Smith, Richard Durbin
المصدر: Nature Communications, Vol 8, Iss 1, Pp 1-7 (2017)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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9دورية أكاديمية
المؤلفون: Karin Tuschl, Esther Meyer, Leonardo E. Valdivia, Ningning Zhao, Chris Dadswell, Alaa Abdul-Sada, Christina Y. Hung, Michael A. Simpson, W. K. Chong, Thomas S. Jacques, Randy L. Woltjer, Simon Eaton, Allison Gregory, Lynn Sanford, Eleanna Kara, Henry Houlden, Stephan M. Cuno, Holger Prokisch, Lorella Valletta, Valeria Tiranti, Rasha Younis, Eamonn R. Maher, John Spencer, Ania Straatman-Iwanowska, Paul Gissen, Laila A. M. Selim, Guillem Pintos-Morell, Wifredo Coroleu-Lletget, Shekeeb S. Mohammad, Sangeetha Yoganathan, Russell C. Dale, Maya Thomas, Jason Rihel, Olaf A. Bodamer, Caroline A. Enns, Susan J. Hayflick, Peter T. Clayton, Philippa B. Mills, Manju A. Kurian, Stephen W. Wilson
المصدر: Nature Communications, Vol 7, Iss 1, Pp 1-16 (2016)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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10دورية أكاديمية
المؤلفون: Andrea Luchetti, Diana Walsh, Fay Rodger, Graeme Clark, Tom Martin, Richard Irving, Mario Sanna, Masahiro Yao, Mercedes Robledo, Hartmut P. H. Neumann, Emma R. Woodward, Farida Latif, Stephen Abbs, Howard Martin, Eamonn R. Maher
المصدر: International Journal of Endocrinology, Vol 2015 (2015)
مصطلحات موضوعية: Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource