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1دورية أكاديمية
المؤلفون: Maria Cristina Sini, Maria Grazia Doro, Laura Frogheri, Angelo Zinellu, Panagiotis Paliogiannis, Alberto Porcu, Fabrizio Scognamillo, Daniele Delogu, Davide Adriano Santeufemia, Ivana Persico, Grazia Palomba, Giovanni Battista Maestrale, Antonio Cossu, Giuseppe Palmieri
المصدر: Journal of Translational Medicine, Vol 22, Iss 1, Pp 1-13 (2024)
مصطلحات موضوعية: Pancreatic ductal adenocarcinoma, Mutation analysis, Genome damage repair, Mutation load rate, Prognosis, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1479-5876Test
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2دورية أكاديمية
المؤلفون: Renato Lobrano, Panagiotis Paliogiannis, Angelo Zinellu, Giuseppe Palmieri, Ivana Persico, Arduino A. Mangoni, Antonio Cossu
المصدر: Current Oncology, Vol 30, Iss 5, Pp 5135-5144 (2023)
مصطلحات موضوعية: skin, cancer, cutaneous angiosarcomas, PD-L1, immunohistochemistry, immunotherapy, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
وصف الملف: electronic resource
العلاقة: https://www.mdpi.com/1718-7729/30/5/388Test; https://doaj.org/toc/1198-0052Test; https://doaj.org/toc/1718-7729Test
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3دورية أكاديمية
المؤلفون: Rita Maria Alves, Paolo Uva, Marielza F. Veiga, Manuela Oppo, Fabiana C. R. Zschaber, Giampiero Porcu, Henrique P. Porto, Ivana Persico, Stefano Onano, Gianmauro Cuccuru, Rossano Atzeni, Lauro C. N. Vieira, Marcos V. A. Pires, Francesco Cucca, Maria Betânia P. Toralles, Andrea Angius, Laura Crisponi
المصدر: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-7 (2019)
مصطلحات موضوعية: Whole exome sequencing, KBG syndrome, ANKRD11 gene, Generalized epilepsy with febrile seizures (GEFS+), SCN9A gene, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s12881-019-0745-7Test; https://doaj.org/toc/1471-2350Test
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4دورية أكاديمية
المؤلفون: Cristian Pattaro, Alexander Teumer, Mathias Gorski, Audrey Y. Chu, Man Li, Vladan Mijatovic, Maija Garnaas, Adrienne Tin, Rossella Sorice, Yong Li, Daniel Taliun, Matthias Olden, Meredith Foster, Qiong Yang, Ming-Huei Chen, Tune H. Pers, Andrew D. Johnson, Yi-An Ko, Christian Fuchsberger, Bamidele Tayo, Michael Nalls, Mary F. Feitosa, Aaron Isaacs, Abbas Dehghan, Pio d’Adamo, Adebowale Adeyemo, Aida Karina Dieffenbach, Alan B. Zonderman, Ilja M. Nolte, Peter J. van der Most, Alan F. Wright, Alan R. Shuldiner, Alanna C. Morrison, Albert Hofman, Albert V. Smith, Albert W. Dreisbach, Andre Franke, Andre G. Uitterlinden, Andres Metspalu, Anke Tonjes, Antonio Lupo, Antonietta Robino, Åsa Johansson, Ayse Demirkan, Barbara Kollerits, Barry I. Freedman, Belen Ponte, Ben A. Oostra, Bernhard Paulweber, Bernhard K. Krämer, Braxton D. Mitchell, Brendan M. Buckley, Carmen A. Peralta, Caroline Hayward, Catherine Helmer, Charles N. Rotimi, Christian M. Shaffer, Christian Müller, Cinzia Sala, Cornelia M. van Duijn, Aude Saint-Pierre, Daniel Ackermann, Daniel Shriner, Daniela Ruggiero, Daniela Toniolo, Yingchang Lu, Daniele Cusi, Darina Czamara, David Ellinghaus, David S. Siscovick, Douglas Ruderfer, Christian Gieger, Harald Grallert, Elena Rochtchina, Elizabeth J. Atkinson, Elizabeth G. Holliday, Eric Boerwinkle, Erika Salvi, Erwin P. Bottinger, Federico Murgia, Fernando Rivadeneira, Florian Ernst, Florian Kronenberg, Frank B. Hu, Gerjan J. Navis, Gary C. Curhan, George B. Ehret, Georg Homuth, Stefan Coassin, Gian-Andri Thun, Giorgio Pistis, Giovanni Gambaro, Giovanni Malerba, Grant W. Montgomery, Gudny Eiriksdottir, Gunnar Jacobs, Guo Li, H-Erich Wichmann, Harry Campbell, Helena Schmidt, Henri Wallaschofski, Henry Völzke, Hermann Brenner, Heyo K. Kroemer, Holly Kramer, Honghuang Lin, I. Mateo Leach, Ian Ford, Idris Guessous, Igor Rudan, Inga Prokopenko, Ingrid Borecki, Iris M. Heid, Ivana Kolcic, Ivana Persico, J. Wouter Jukema, James F. Wilson, Janine F. Felix, Jasmin Divers, Jean-Charles Lambert, Jeanette M. Stafford, Jean-Michel Gaspoz, Jennifer A. Smith, Jessica D. Faul, Jie Jin Wang, Jingzhong Ding, Joel N. Hirschhorn, John Attia, John B. Whitfield, John Chalmers, Jorma Viikari, Josef Coresh, Joshua C. Denny, Juha Karjalainen, Jyotika K. Fernandes, Karlhans Endlich, Katja Butterbach, Keith L. Keene, Kurt Lohman, Laura Portas, Lenore J. Launer, Leo-Pekka Lyytikäinen, Loic Yengo, Lude Franke, Luigi Ferrucci, Lynda M. Rose, Lyudmyla Kedenko, Madhumathi Rao, Maksim Struchalin, Marcus E. Kleber, Margherita Cavalieri, Margot Haun, Marilyn C. Cornelis, Marina Ciullo, Mario Pirastu, Mariza de Andrade, Mark A. McEvoy, Mark Woodward, Martin Adam, Massimiliano Cocca, Matthias Nauck, Medea Imboden, Melanie Waldenberger, Menno Pruijm, Marie Metzger, Michael Stumvoll, Michele K. Evans, Michele M. Sale, Mika Kähönen, Mladen Boban, Murielle Bochud, Myriam Rheinberger, Niek Verweij, Nabila Bouatia-Naji, Nicholas G. Martin, Nick Hastie, Nicole Probst-Hensch, Nicole Soranzo, Olivier Devuyst, Olli Raitakari, Omri Gottesman, Oscar H. Franco, Ozren Polasek, Paolo Gasparini, Patricia B. Munroe, Paul M. Ridker, Paul Mitchell, Paul Muntner, Christa Meisinger, Johannes H. Smit, ICBP Consortium, AGEN Consortium, CARDIOGRAM, CHARGe-Heart Failure Group, ECHOGen Consortium, Peter Kovacs, Philipp S. Wild, Philippe Froguel, Rainer Rettig, Reedik Mägi, Reiner Biffar, Reinhold Schmidt, Rita P. S. Middelberg, Robert J. Carroll, Brenda W. Penninx, Rodney J. Scott, Ronit Katz, Sanaz Sedaghat, Sarah H. Wild, Sharon L. R. Kardia, Sheila Ulivi, Shih-Jen Hwang, Stefan Enroth, Stefan Kloiber, Stella Trompet, Benedicte Stengel, Stephen J. Hancock, Stephen T. Turner, Sylvia E. Rosas, Sylvia Stracke, Tamara B. Harris, Tanja Zeller, Tatijana Zemunik, Terho Lehtimäki, Thomas Illig, Thor Aspelund, Tiit Nikopensius, Tonu Esko, Toshiko Tanaka, Ulf Gyllensten, Uwe Völker, Valur Emilsson, Veronique Vitart, Ville Aalto, Vilmundur Gudnason, Vincent Chouraki, Wei-Min Chen, Wilmar Igl, Winfried März, Wolfgang Koenig, Wolfgang Lieb, Ruth J. F. Loos, Yongmei Liu, Harold Snieder, Peter P. Pramstaller, Afshin Parsa, Jeffrey R. O’Connell, Katalin Susztak, Pavel Hamet, Johanne Tremblay, Ian H. de Boer, Carsten A. Böger, Wolfram Goessling, Daniel I. Chasman, Anna Köttgen, W. H. Linda Kao, Caroline S. Fox
المصدر: Nature Communications, Vol 7, Iss 1, Pp 1-19 (2016)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2041-1723Test
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5دورية أكاديمية
المؤلفون: Silvia Tore, Stefania Casula, Giuseppina Casu, Maria Pina Concas, Paola Pistidda, Ivana Persico, Alessandro Sassu, Giovanni Battista Maestrale, Caterina Mele, Maria Rosa Caruso, Bibiana Bonerba, Paolo Usai, Ivo Deiana, Timothy Thornton, Mario Pirastu, Paola Forabosco
المصدر: PLoS Genetics, Vol 7, Iss 1, p e1001281 (2011)
وصف الملف: electronic resource
العلاقة: http://europepmc.org/articles/PMC3024262?pdf=renderTest; https://doaj.org/toc/1553-7390Test; https://doaj.org/toc/1553-7404Test
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6دورية أكاديمية
المؤلفون: Giorgio Pistis, Ignazio Piras, Nicola Pirastu, Ivana Persico, Alessandro Sassu, Andrea Picciau, Dionigio Prodi, Cristina Fraumene, Evelina Mocci, Maria Teresa Manias, Rossano Atzeni, Massimiliano Cosso, Mario Pirastu, Andrea Angius
المصدر: PLoS ONE, Vol 4, Iss 2, p e4654 (2009)
وصف الملف: electronic resource
العلاقة: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/19247500/?tool=EBITest; https://doaj.org/toc/1932-6203Test
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7
المؤلفون: Gudrun Aubertin, Frank Rutsch, Gianmauro Cuccuru, Laura Crisponi, Insa Buers, Manuela Oppo, Paolo Uva, Eva-Lena Stattin, Andrew E. Fry, Ivana Persico, Gurdip Hulait, Andrea Angius, María Palomares-Bralo, Fernando Santos-Simarro, Göran Annerén, Margot I. Van Allen, Francesco Muntoni, Giangiorgio Crisponi, Stefano Onano, Francesco Cucca
المصدر: Clinical Genetics. 95:607-614
مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Scoliosis, 030105 genetics & heredity, Bioinformatics, Genetic analysis, Death, Sudden, 03 medical and health sciences, Exome Sequencing, Genetics, medicine, Humans, Hyperhidrosis, Genetics (clinical), Exome sequencing, Genetic heterogeneity, business.industry, Facies, Infant, medicine.disease, Phenotype, Hypotonia, Pedigree, 030104 developmental biology, Medical genetics, Female, Trismus, CLCF1, medicine.symptom, business, Hand Deformities, Congenital
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::070c99ea26ca0c56947b368bd431615eTest
https://doi.org/10.1111/cge.13532Test -
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المؤلفون: Rossano Atzeni, Henrique P. Porto, Lauro C. N. Vieira, Manuela Oppo, Maria Betânia Pereira Toralles, Andrea Angius, Marielza Veiga, Rita Maria Alves, Fabiana C. R. Zschaber, Stefano Onano, Gianmauro Cuccuru, Paolo Uva, Laura Crisponi, Marcos V. A. Pires, Giampiero Porcu, Francesco Cucca, Ivana Persico
المصدر: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-7 (2019)
BMC Medical Geneticsمصطلحات موضوعية: 0301 basic medicine, Proband, Case Report, 030105 genetics & heredity, Gene mutation, ANKRD11 gene, Genetics (clinical), Exome sequencing, Genetics, NAV1.7 Voltage-Gated Sodium Channel, Electroencephalography, Pedigree, 3. Good health, KBG syndrome, Generalized epilepsy with febrile seizures (GEFS+), Phenotype, Epilepsy, Generalized, Female, Brazil, Heterozygote, lcsh:Internal medicine, Adolescent, lcsh:QH426-470, Locus (genetics), Biology, Seizures, Febrile, 03 medical and health sciences, Dravet syndrome, Intellectual Disability, Exome Sequencing, medicine, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, Allele, Generalized epilepsy, lcsh:RC31-1245, Alleles, Genetic Association Studies, Bone Diseases, Developmental, Tooth Abnormalities, Whole exome sequencing, Facies, SCN9A gene, medicine.disease, Human genetics, Repressor Proteins, lcsh:Genetics, 030104 developmental biology, Genetic Loci, Mutation
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ef7e020cfe713bc2e431292d52a8ffeTest
http://link.springer.com/article/10.1186/s12881-019-0745-7Test -
9
المؤلفون: Laura Crisponi, Ivana Persico, Anirban Mandal, Anju Seth, Puneet Kaur Sahi
المصدر: Indian pediatrics. 57(11)
مصطلحات موضوعية: medicine.medical_specialty, Cytokine Receptor-Like Factor 1, business.industry, Maternal and child health, Facies, Cold-induced sweating syndrome, Sweating, Death, Sudden, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Immunology, Pediatric surgery, Mutation, Medicine, Humans, Hyperhidrosis, Trismus, Receptors, Cytokine, business, Hand Deformities, Congenital
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32a8fb1aa82884c636fe2070198d4748Test
https://pubmed.ncbi.nlm.nih.gov/33231180Test -
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المؤلفون: Ettore Piro, Ivana Persico, Vincenzo Antona, Ingrid Anne Mandy Schierz, Giovanni Corsello, Gregorio Serra
المساهمون: Schierz I.A.M., Serra G., Antona V., Persico I., Corsello G., Piro E.
المصدر: Clinical dysmorphology. 29(3)
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Crisponi syndrome, Compound heterozygosity, Pathology and Forensic Medicine, Camptodactyly, Death, Sudden, Periodic fever, Medicine, Humans, Hyperhidrosis, Receptors, Cytokine, Genetics (clinical), Sequence Deletion, Developmental profile, developmental delay, thin corpus callosum, clinical profile, business.industry, Infant, Newborn, Facies, Infant, Cold-induced sweating syndrome, General Medicine, Thin corpus callosum, Pediatrics, Perinatology and Child Health, Trismus, Anatomy, medicine.symptom, Developmental Delay,Cold-induced sweating syndrome, Camptodactyly,Thin corpus callosum, Periodic fever, business, Hand Deformities, Congenital
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e825ea30378383dad3c5fddedeaf772Test
https://pubmed.ncbi.nlm.nih.gov/32433043Test