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1دورية أكاديمية
المؤلفون: Ilaria Catusi, Maria Paola Recalcati, Ilaria Bestetti, Maria Garzo, Chiara Valtorta, Melissa Alfonsi, Alberta Alghisi, Stefania Cappellani, Rosario Casalone, Rossella Caselli, Caterina Ceccarini, Carlo Ceglia, Anna Maria Ciaschini, Domenico Coviello, Francesca Crosti, Annamaria D'Aprile, Antonella Fabretto, Rita Genesio, Marzia Giagnacovo, Paola Granata, Ilaria Longo, Michela Malacarne, Giuseppina Marseglia, Annamaria Montaldi, Anna Maria Nardone, Chiara Palka, Vanna Pecile, Chiara Pessina, Diana Postorivo, Serena Redaelli, Alessandra Renieri, Chiara Rigon, Fabiola Tiberi, Mariella Tonelli, Nicoletta Villa, Anna Zilio, Daniela Zuccarello, Antonio Novelli, Lidia Larizza, Daniela Giardino
المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 1, Pp n/a-n/a (2020)
مصطلحات موضوعية: Chromosomal microarray analysis (CMA), clinical marker identification, detection rate, pathogenic CNV, Genetics, QH426-470
العلاقة: https://doi.org/10.1002/mgg3.1056Test; https://doaj.org/toc/2324-9269Test; https://doaj.org/article/dcd2b41af7c54fef9ac5273be374d880Test
الإتاحة: https://doi.org/10.1002/mgg3.1056Test
https://doaj.org/article/dcd2b41af7c54fef9ac5273be374d880Test -
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المصدر: The FASEB Journal. 36
مصطلحات موضوعية: Genetics, Molecular Biology, Biochemistry, Biotechnology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0ae73e29254b3effdb63507de0d25fc6Test
https://doi.org/10.1096/fasebj.2022.36.s1.r3054Test -
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المؤلفون: André L. Teixeira, Massimo Nardone, Milena Samora, Igor A. Fernandes, Plinio S. Ramos, Jeann L. Sabino‐Carvalho, Djalma R. Ricardo, Philip J. Millar, Lauro C. Vianna
المصدر: The FASEB Journal. 36
مصطلحات موضوعية: Genetics, Molecular Biology, Biochemistry, Biotechnology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::26c9001b61b9c4cb444f205c2f9ec0a5Test
https://doi.org/10.1096/fasebj.2022.36.s1.r4058Test -
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المؤلفون: Brooke Shafer, Anthony Incognito, Tyler Vermeulen, Massimo Nardone, Andre Teixeira, Stephen Klassen, Philip Millar, Glen Foster
المصدر: The FASEB Journal. 36
مصطلحات موضوعية: Genetics, Molecular Biology, Biochemistry, Biotechnology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::cfb8597bbf398bdcdbb94d74928baacfTest
https://doi.org/10.1096/fasebj.2022.36.s1.r2888Test -
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المصدر: The FASEB Journal. 36
مصطلحات موضوعية: Genetics, Molecular Biology, Biochemistry, Biotechnology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a4ebeef3416a7b0f76f7d03ecf1a29d8Test
https://doi.org/10.1096/fasebj.2022.36.s1.r4098Test -
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المؤلفون: Massimo Nardone, Carlin Katerberg, André L. Teixeira, Philip J. Millar
المصدر: The FASEB Journal. 36
مصطلحات موضوعية: Genetics, Molecular Biology, Biochemistry, Biotechnology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ffaeffcf12d07a801c8e99a6a503cbdaTest
https://doi.org/10.1096/fasebj.2022.36.s1.r3374Test -
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المؤلفون: Caterina Ceccarini, Valentina Imperatore, Stefania Troiani, Monia Magliozzi, Anna Maria Nardone, Amedea Mencarelli, Paolo Prontera, Antonio Novelli, Fortunato Lonardo, Daniela Rogaia, Maria Cristina Digilio, Maria Teresa Falco, Carla Cesarano, Marco Seri, Maria Giovanna Tedesco, Paolo Fontana, Chiara Leoni, Carmelo Piscopo
المصدر: American Journal of Medical Genetics Part A. 185:1204-1210
مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Microcephaly, medicine.diagnostic_test, business.industry, 030105 genetics & heredity, medicine.disease, Short stature, GNAO1, 03 medical and health sciences, 030104 developmental biology, Intellectual disability, Mutation (genetic algorithm), Genetics, Feingold syndrome, Medicine, Syndactyly, medicine.symptom, business, Genetics (clinical), Genetic testing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::55c5aeabe085e4ff8dea9ed8eab51a2cTest
https://doi.org/10.1002/ajmg.a.62068Test -
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المؤلفون: Letizia Camerota, Antonio Suppa, Luís Pires, Susana Isabel Ferreira, Cinzia Galasso, Anna Maria Nardone, Isabel M. Carreira, Fernando De Maio, Francesco Brancati, Silvia Lanciotti, Lina Ramos, Joana B. Melo, Giacomo Cinnirella
المصدر: American Journal of Medical Genetics Part A. 182:2694-2698
مصطلحات موضوعية: 0301 basic medicine, 030105 genetics & heredity, Bioinformatics, Settore MED/05, Short stature, 03 medical and health sciences, Intellectual disability, Genetics, medicine, Precocious puberty, NPR2, Genetics (clinical), business.industry, Chromosome, 9p13 deletion syndrome, medicine.disease, tremor, Phenotype, myoclonus, 030104 developmental biology, Feature (computer vision), medicine.symptom, business, Myoclonus
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::840c5cdaab9e75e5a8a31159a01e62f6Test
https://doi.org/10.1002/ajmg.a.61807Test -
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المؤلفون: Klarissa D. Jackson, Dasean Nardone-White, Bethany Latham
المصدر: The FASEB Journal. 35
مصطلحات موضوعية: Biochemistry, Human liver, Chemistry, Kinase, Genetics, Metabolism, Molecular Biology, Biotechnology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::07f568e72cc7f22edfe6940d6eb3ae9cTest
https://doi.org/10.1096/fasebj.2021.35.s1.02092Test -
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المؤلفون: Dasean Nardone, Klarissa D. Jackson
المصدر: The FASEB Journal. 35
مصطلحات موضوعية: Chemistry, Genetics, medicine, Pharmacology, Lapatinib, Molecular Biology, Biochemistry, Detoxication, In vitro, Biotechnology, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e71cd0ed3acdfb29aebe446e5118f6a0Test
https://doi.org/10.1096/fasebj.2021.35.s1.03460Test