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1دورية أكاديمية
المؤلفون: Calogerina Catalano, Nagarajan Paramasivam, Joanna Blocka, Sara Giangiobbe, Stefanie Huhn, Matthias Schlesner, Niels Weinhold, Rolf Sijmons, Mirjam de Jong, Christian Langer, Klaus-Dieter Preuss, Björn Nilsson, Brian Durie, Hartmut Goldschmidt, Obul Reddy Bandapalli, Kari Hemminki, Asta Försti
المصدر: Blood Cancer Journal, Vol 11, Iss 2, Pp 1-4 (2021)
مصطلحات موضوعية: Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2044-5385Test
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2دورية أكاديمية
المؤلفون: Christel Tran, Licia Turolla, Diana Ballhausen, Sandrine Cornaz Buros, Tony Teav, Hector Gallart-Ayala, Julijana Ivanisevic, Mohamed Faouzi, Dirk J. Lefeber, Ivan Ivanovski, Sara Giangiobbe, Stefano Giuseppe Caraffi, Livia Garavelli, Andrea Superti-Furga
المصدر: Molecular Genetics and Metabolism Reports, Vol 28, Iss , Pp 100777- (2021)
مصطلحات موضوعية: Sialic acid, NANS deficiency, Developmental delay, Nutrition therapy, Brain gangliosides, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426921000719Test; https://doaj.org/toc/2214-4269Test
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3دورية أكاديمية
المؤلفون: Aayushi Srivastava, Sara Giangiobbe, Diamanto Skopelitou, Beiping Miao, Nagarajan Paramasivam, Chiara Diquigiovanni, Elena Bonora, Kari Hemminki, Asta Försti, Obul Reddy Bandapalli
المصدر: Frontiers in Endocrinology, Vol 12 (2021)
مصطلحات موضوعية: CHEK2, EWSR1, TIAM1, familial non-medullary thyroid cancer, germline variant, non-syndromic, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fendo.2021.600682/fullTest; https://doaj.org/toc/1664-2392Test
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4دورية أكاديمية
المؤلفون: Abhishek Kumar, Obul Reddy Bandapalli, Nagarajan Paramasivam, Sara Giangiobbe, Chiara Diquigiovanni, Elena Bonora, Roland Eils, Matthias Schlesner, Kari Hemminki, Asta Försti
المصدر: Scientific Reports, Vol 8, Iss 1, Pp 1-12 (2018)
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2045-2322Test
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5دورية أكاديمية
المؤلفون: Beiping Miao, Diamanto Skopelitou, Aayushi Srivastava, Sara Giangiobbe, Dagmara Dymerska, Nagarajan Paramasivam, Abhishek Kumar, Magdalena Kuświk, Wojciech Kluźniak, Katarzyna Paszkowska-Szczur, Matthias Schlesner, Jan Lubinski, Kari Hemminki, Asta Försti, Obul Reddy Bandapalli
المصدر: International Journal of Molecular Sciences, Vol 23, Iss 3, p 1295 (2022)
مصطلحات موضوعية: colorectal cancer, PTK7, germline variant, AKT signaling pathway, familial cancers, familial cancer variant prioritization pipeline, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
العلاقة: https://www.mdpi.com/1422-0067/23/3/1295Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test
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6دورية أكاديمية
المؤلفون: Aayushi Srivastava, Sara Giangiobbe, Abhishek Kumar, Nagarajan Paramasivam, Dagmara Dymerska, Wolfgang Behnisch, Mathias Witzens-Harig, Jan Lubinski, Kari Hemminki, Asta Försti, Obul Reddy Bandapalli
المصدر: Frontiers in Bioengineering and Biotechnology, Vol 8 (2020)
مصطلحات موضوعية: familial Hodgkin lymphoma, whole genome sequencing, predisposing genes, germline variants, variant prioritization, next generation sequencing, Biotechnology, TP248.13-248.65
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/article/10.3389/fbioe.2020.00179/fullTest; https://doaj.org/toc/2296-4185Test
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7دورية أكاديمية
المؤلفون: Gianluca Contrò, Alessia Micalizzi, Sara Giangiobbe, Stefano Giuseppe Caraffi, Roberta Zuntini, Simonetta Rosato, Marzia Pollazzon, Alessandra Terracciano, Manuela Napoli, Susanna Rizzi, Grazia Gabriella Salerno, Francesca Clementina Radio, Marcello Niceta, Elena Parrini, Carlo Fusco, Giancarlo Gargano, Renzo Guerrini, Marco Tartaglia, Antonio Novelli, Orsetta Zuffardi, Livia Garavelli
المصدر: Genes, Vol 12, Iss 8, p 1208 (2021)
مصطلحات موضوعية: CEP85L, lissencephaly 10, posterior lissencephaly, double-cortex, abnormalities of cortical development, whole exome sequencing, Genetics, QH426-470
وصف الملف: electronic resource
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8دورية أكاديمية
المؤلفون: Stefano Giuseppe Caraffi, Ilenia Maini, Ivan Ivanovski, Marzia Pollazzon, Sara Giangiobbe, Maurizia Valli, Antonio Rossi, Silvia Sassi, Silvia Faccioli, Maja Di Rocco, Cinzia Magnani, Belinda Campos-Xavier, Sheila Unger, Andrea Superti-Furga, Livia Garavelli
المصدر: Genes, Vol 10, Iss 10, p 799 (2019)
مصطلحات موضوعية: beta-1,3-galactosyltransferase 6 (b3galt6), beta-1,4-galactosyltransferase 7 (b4galt7), spondyloepimetaphyseal dysplasia with joint laxity (semdjl1, semdjl-beighton type), ehlers–danlos syndrome (eds), spondylodysplastic ehlers–danlos syndrome (speds), speds-b3galt6, speds-b4galt7, extreme laxity of distal joints, soft, doughy skin on the hands and feet, Genetics, QH426-470
وصف الملف: electronic resource
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9دورية أكاديمية
المؤلفون: Aayushi Srivastava, Abhishek Kumar, Sara Giangiobbe, Elena Bonora, Kari Hemminki, Asta Försti, Obul Reddy Bandapalli
المصدر: Biomolecules, Vol 9, Iss 10, p 605 (2019)
مصطلحات موضوعية: papillary thyroid cancer, germline mutations, whole genome sequencing, predisposition markers, pathway analysis, Microbiology, QR1-502
وصف الملف: electronic resource
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10دورية أكاديمية
المؤلفون: Irene Forno, Stefano Ferrero, Maria Veronica Russo, Giacomo Gazzano, Sara Giangiobbe, Emanuele Montanari, Alberto Del Nero, Bernardo Rocco, Giancarlo Albo, Lucia R Languino, Dario C Altieri, Valentina Vaira, Silvano Bosari
المصدر: PLoS ONE, Vol 10, Iss 6, p e0130060 (2015)
وصف الملف: electronic resource
العلاقة: http://europepmc.org/articles/PMC4479381?pdf=renderTest; https://doaj.org/toc/1932-6203Test