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1دورية أكاديمية
المؤلفون: Ke Mao, Christelle Borel, Muhammad Ansar, Angad Jolly, Periklis Makrythanasis, Christine Froehlich, Justyna Iwaszkiewicz, Bingqing Wang, Xiaopeng Xu, Qiang Li, Xavier Blanc, Hao Zhu, Qi Chen, Fujun Jin, Harinarayana Ankamreddy, Sunita Singh, Hongyuan Zhang, Xiaogang Wang, Peiwei Chen, Emmanuelle Ranza, Sohail Aziz Paracha, Syed Fahim Shah, Valentina Guida, Francesca Piceci-Sparascio, Daniela Melis, Bruno Dallapiccola, Maria Cristina Digilio, Antonio Novelli, Monia Magliozzi, Maria Teresa Fadda, Haley Streff, Keren Machol, Richard A. Lewis, Vincent Zoete, Gabriella Maria Squeo, Paolo Prontera, Giorgia Mancano, Giulia Gori, Milena Mariani, Angelo Selicorni, Stavroula Psoni, Helen Fryssira, Sofia Douzgou, Sandrine Marlin, Saskia Biskup, Alessandro De Luca, Giuseppe Merla, Shouqin Zhao, Timothy C. Cox, Andrew K. Groves, James R. Lupski, Qingguo Zhang, Yong-Biao Zhang, Stylianos E. Antonarakis
المصدر: Nature Communications, Vol 14, Iss 1, Pp 1-16 (2023)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2041-1723Test
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2دورية أكاديمية
المؤلفون: Angelica Pagliazzi, Giorgia Mancano, Giulia Forzano, Fabiana diGiovanni, Giulia Gori, Giovanna Traficante, Achille Iolascon, Sabrina Giglio
المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)
مصطلحات موضوعية: COVID‐19, genetic counseling, pandemic, telegenetics, telemedicine, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2324-9269Test
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3دورية أكاديمية
المؤلفون: Silvia Ricci, Lorenzo Lodi, Daniele Serranti, Marco Moroni, Gilda Belli, Giorgia Mancano, Andrea La Barbera, Giulia Forzano, Giusi Mangone, Giuseppe Indolfi, Chiara Azzari
المصدر: Frontiers in Immunology, Vol 10 (2019)
مصطلحات موضوعية: KREC, newborn screening, immunodeficiency, NBAS, neuroblastoma amplified sequence deficiency, SOPH, Immunologic diseases. Allergy, RC581-607
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/article/10.3389/fimmu.2019.01955/fullTest; https://doaj.org/toc/1664-3224Test
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4دورية أكاديمية
المؤلفون: Stella Lanni, Martina Goracci, Loredana Borrelli, Giorgia Mancano, Pietro Chiurazzi, Umberto Moscato, Fabrizio Ferrè, Manuela Helmer-Citterich, Elisabetta Tabolacci, Giovanni Neri
المصدر: PLoS Genetics, Vol 9, Iss 7, p e1003601 (2013)
وصف الملف: electronic resource
العلاقة: http://europepmc.org/articles/PMC3715420?pdf=renderTest; https://doaj.org/toc/1553-7390Test; https://doaj.org/toc/1553-7404Test
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المؤلفون: Sabrina Giglio, Angelica Pagliazzi, Giovanna Traficante, Achille Iolascon, Fabiana di Giovanni, Giulia Gori, Giorgia Mancano, Giulia Forzano
المساهمون: Pagliazzi, A., Mancano, G., Forzano, G., di Giovanni, F., Gori, G., Traficante, G., Iolascon, A., Giglio, S.
المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicineمصطلحات موضوعية: 0301 basic medicine, Postnatal Care, medicine.medical_specialty, Telemedicine, Coronavirus disease 2019 (COVID-19), lcsh:QH426-470, Genetic counseling, Genetics, Medical, 030105 genetics & heredity, 03 medical and health sciences, COVID‐19, Pediatric hospital, Pandemic, Health care, Genetics, medicine, Humans, Genetics(clinical), Molecular Biology, telegenetics, Genetics (clinical), Genetics & Heredity, Science & Technology, genetic counseling, business.industry, pandemic, COVID-19, Prenatal Care, Genetics and Genomic Medicine around the World, lcsh:Genetics, 030104 developmental biology, Italy, Family medicine, Medical genetics, telegenetic, telemedicine, business, Life Sciences & Biomedicine, Human
وصف الملف: Print-Electronic
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b88d15f29b2754d067d4d8ac5953bbeTest
https://lirias.kuleuven.be/handle/20.500.12942/691217Test -
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المؤلفون: Gilda Belli, Lorenzo Lodi, Andrea La Barbera, Marco Moroni, Giuseppe Indolfi, Giulia Forzano, Silvia Ricci, Giorgia Mancano, Daniele Serranti, Chiara Azzari, Giusi Mangone
المصدر: Frontiers in Immunology, Vol 10 (2019)
Frontiers in Immunologyمصطلحات موضوعية: lcsh:Immunologic diseases. Allergy, 0301 basic medicine, Primary Immunodeficiency Diseases, Immunology, Case Report, Disease, ILFS2, Immunodeficiency, KREC, NBAS, Neuroblastoma amplified sequence deficiency, Newborn screening, SOPH, Immunophenotyping, Hypogammaglobulinemia, 03 medical and health sciences, Neonatal Screening, 0302 clinical medicine, Immune system, Neuroblastoma, Exome Sequencing, Humans, Immunology and Allergy, Medicine, Genetic Predisposition to Disease, Genetic Testing, Lymphocytes, Genetic Association Studies, Sequence (medicine), neuroblastoma amplified sequence deficiency, newborn screening, business.industry, Infant, Newborn, food and beverages, medicine.disease, Neoplasm Proteins, 030104 developmental biology, Primary immunodeficiency, lcsh:RC581-607, business, immunodeficiency, Biomarkers, 030215 immunology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dccb9b189c007981c8fe615b6d397137Test
https://doi.org/10.3389/fimmu.2019.01955Test -
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المؤلفون: Marco Braghero, Annamaria Staiano, Eleonora Biasin, Patrizia Matarazzo, Silvia Einaudi, Rosaria Manicone, Francesco Felicetti, Enrico Brignardello, Franca Fagioli, Elisabetta Bignamini, Elena Nave, F. Callea, C. Concato, E. Fiscarelli, S. Garrone, M.Rossi de Gasperis, Patrizia Calzi, Grazia Marinelli, Roberto Besana, Carlo Caffarelli, Antonio Di Peri, Irene Lapetina, Patrizia Cincinnati, Rosalia Maria Da Riol, Mario De Curtis, Lucia Dito, Chiara Protano, Susanna Esposito, Dante Ferrara, Rossella Galiano, Pasquale Novellino, Eric Heath Kossoff, Andrzej Krzysztofiak, Elena Bozzola, Laura Lancella, Alessandra Marchesi, Alberto Villani, Paola Lago, Elisabetta Garetti, Anna Pirelli, Paola Marchisio, Maria Santagati, Stefania Stefani, Nicola Principi, Valeria d’Apolito, Luigi Memo, Angelo Selicorni, Vito Leonardo Miniello, Lucia Diaferio, Antonella Palmieri, Luciana Parola, Ettore Piro, Claudio Romano, Maria Ausilia Catena, Sabrina Cardile, Oliviero Sacco, Donata Girosi, Roberta Olcese, Mariangela Tosca, Giovanni Arturo Rossi, Sergio Salerno, Maria Chiara Terranova, Francesca Santamaria, Giorgia Mancano, Silvia Maitz, Virginia A. Stallings, Chiara Berlolaso, Carolyn McAnlis, Joan I. Schall, Pasquale Striano, Rita Tanas, Giulia De Iaco, Maria Marsella, Guido Caggese, Paolo Toma, Piero Valentini, Danilo Buonsenso, David Pata, Manuela Ceccarelli, Elvira Verduci, Marta Brambilla, Benedetta Mariani, Carlotta Lassandro, Alice Re Dionigi, Sara Vizzuso, Giuseppe Banderali, Gianvito Panzarino, Claudia Di Paolantonio, Alberto Verrotti, Laura Cursi, Annalisa Grandin, Raffaele Virdis, Patrizia Carletti, Giovanna Weber, Silvana Caiulo, Maria Cristina Vigone
المصدر: Italian Journal of Pediatrics. 43
مصطلحات موضوعية: 03 medical and health sciences, Pediatrics, medicine.medical_specialty, 0302 clinical medicine, business.industry, Maternal and child health, 030225 pediatrics, Family medicine, medicine, 030212 general & internal medicine, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::2729fd1af982813c55f3ad3c2075f820Test
https://doi.org/10.1186/s13052-017-0327-2Test -
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المؤلفون: Elisa Gremese, Fiorella Gurrieri, Fowzan S. Alkuraya, Giorgia Mancano, Nisha Patel, Gianfranco Ferraccioli, A. Carbonella
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Vasculitis, Settore MED/16 - REUMATOLOGIA, Urticaria, medicine.disease_cause, Settore MED/03 - GENETICA MEDICA, Frameshift mutation, Autoimmune Diseases, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Systemic lupus erythematosus, Rheumatology, immune system diseases, medicine, Humans, Lupus Erythematosus, Systemic, Family, Genetic risk, skin and connective tissue diseases, 030203 arthritis & rheumatology, Autoimmune disease, Mutation, Endodeoxyribonucleases, business.industry, Syndrome, Middle Aged, medicine.disease, 030104 developmental biology, Immunology, Mendelian inheritance, symbols, Organ involvement, Female, Presentation (obstetrics), DNASE1L3, business, Anti-SSA/Ro autoantibodies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4a76c2255048f866f7c850f2af695e6Test
http://hdl.handle.net/10807/86998Test -
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المصدر: American Journal of Medical Genetics Part A. 161:2890-2893
مصطلحات موضوعية: Adult, Male, Candidate gene, Adolescent, DNA Copy Number Variations, Biology, deletion 3p24.3, duplication 18q11.2, Settore MED/03 - GENETICA MEDICA, Young Adult, Intellectual disability, Gene duplication, Genetics, medicine, Humans, array CGH, Abnormalities, Multiple, deletion 3p22.3p22.2, Minor physical anomalies, Copy-number variation, Child, duplication 6q22.31, Gene, Genetics (clinical), Comparative Genomic Hybridization, Facies, Syndrome, Middle Aged, multiple copy number variants, Phosphoproteins, medicine.disease, Phenotype, Pedigree, Chromosome 3, intellectual disability, Child, Preschool, Female, Chromosomes, Human, Pair 3, Chromosome Deletion, Microtubule-Associated Proteins
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::585f758b1f5734033f9073b464bf5e62Test
https://doi.org/10.1002/ajmg.a.36257Test -
10
المؤلفون: Pietro Chiurazzi, Giorgia Mancano, Federica Palumbo, Stella Lanni, Giovanni Neri, Martina Goracci, Elisabetta Tabolacci
المصدر: European journal of human genetics : EJHG. 24(5)
مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Locus (genetics), Biology, Settore MED/03 - GENETICA MEDICA, FRAGILE X SYNDROME, Cell Line, DNA Methylation, DNA-Binding Proteins, Fragile X Mental Retardation Protein, Humans, Protein Binding, 5' Untranslated Regions, Genetics, Genetics (clinical), Article, 03 medical and health sciences, Transcription (biology), Gene silencing, Epigenetics, Allele, Wild type, FMR1, nervous system diseases, 030104 developmental biology, DNA methylation
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32a777f0f2bf1d4bf747436d27956b3aTest
https://pubmed.ncbi.nlm.nih.gov/26306647Test