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1دورية أكاديمية
المؤلفون: Marialetizia Palomba, Aurelia Rughetti, Giuseppina Mignogna, Tiziana Castrignanò, Hassan Rahimi, Laura Masuelli, Chiara Napoletano, Valentina Pinna, Alessandra Giorgi, Mario Santoro, Maria Eugenia Schininà, Bruno Maras, Simonetta Mattiucci
المصدر: Frontiers in Cellular and Infection Microbiology, Vol 13 (2023)
مصطلحات موضوعية: Anisakis pegreffii, zoonotic parasite, third stage larvae, extracellular vesicles, proteomics, heat shock proteins, Microbiology, QR1-502
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Francesca Di Candia, Valeria Marchetti, Ferdinando Cirillo, Alessandro Di Minno, Carmen Rosano, Stefano Pagano, Maria Anna Siano, Mariateresa Falco, Antonia Assunto, Giovanni Boccia, Gerardo Magliacane, Valentina Pinna, Alessandro De Luca, Marco Tartaglia, Giovanni Di Minno, Pietro Strisciuglio, Daniela Melis
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-7 (2021)
مصطلحات موضوعية: RASopathies, Noonan syndrome, Bleeding disorders, Laboratory test abnormalities, Screening surgical procedures, Abnormal platelet function, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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3دورية أكاديمية
المؤلفون: Antonia Assunto, Ursula Ferrara, Alessandro De Luca, Claudia Pivonello, Lisa Lombardo, Annapina Piscitelli, Cristina Tortora, Valentina Pinna, Paola Daniele, Rosario Pivonello, Maria Giovanna Russo, Giuseppe Limongelli, Annamaria Colao, Marco Tartaglia, Pietro Strisciuglio, Daniela Melis
المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-9 (2019)
مصطلحات موضوعية: NF1, Neurofibromatosis type 1, Alternative splicing, Gene expression, mRNA isoforms, Phenotypic expressivity, Medicine
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Valentina Pinna, Paola Daniele, Giulio Calcagni, Lucio Mariniello, Roberta Criscione, Chiara Giardina, Francesca Romana Lepri, Hossein Hozhabri, Angela Alberico, Stefania Cavone, Annunziata Tina Morella, Roberta Mandile, Francesca Annunziata, Niccolò Di Giosaffatte, Maria Cecilia D’Asdia, Paolo Versacci, Rossella Capolino, Pietro Strisciuglio, Sandra Giustini, Daniela Melis, Maria Cristina Digilio, Marco Tartaglia, Bruno Marino, Alessandro De Luca
المصدر: Genes, Vol 10, Iss 9, p 675 (2019)
مصطلحات موضوعية: neurofibromatosis type 1, congenital heart disease, pulmonary valve stenosis, non-truncating mutation, Noonan syndrome, Genetics, QH426-470
وصف الملف: electronic resource
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المؤلفون: Riccardo Melis, Laura Vacca, Alessia Cariani, Laura Carugati, Charis Charilaou, Simone Di Crescenzo, Alice Ferrari, Maria Cristina Follesa, Cecilia Mancusi, Valentina Pinna, Fabrizio Serena, Letizia Sion, Fausto Tinti, Rita Cannas
المصدر: Aquatic Conservation: Marine and Freshwater Ecosystems. 33:458-471
مصطلحات موضوعية: Ecology, Aquatic Science, Nature and Landscape Conservation
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6
المؤلفون: F. Cirillo, Stefano Pagano, Carmen Rosano, Valeria Marchetti, Mariateresa Falco, Valentina Pinna, Daniela Melis, Gerardo Magliacane, Alessandro De Luca, Pietro Strisciuglio, Giovanni Boccia, Giovanni Di Minno, Marco Tartaglia, Alessandro Di Minno, Maria Siano, Francesca Di Candia, Antonia Assunto
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-7 (2021)
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: Blood Platelets, Platelet optical aggregometry, medicine.medical_specialty, Hemorrhage, Screening surgical procedures, Bleeding disorders, Gastroenterology, Laboratory test abnormalities, Hemostatics, chemistry.chemical_compound, Internal medicine, medicine, Humans, Noonan syndrome, Pharmacology (medical), Platelet, Ristocetin, Child, Abnormal platelet function, RASopathies, Genetics (clinical), Clotting factor, Prothrombin time, biology, medicine.diagnostic_test, Factor VII, business.industry, Research, Factor V, General Medicine, Factor XIII, medicine.disease, Bleeding diathesis, chemistry, biology.protein, Medicine, Blood Coagulation Tests, business, medicine.drug, Transcription Factors
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7
المؤلفون: Maria Siano, Pietro Strisciuglio, Valentina Pinna, Serena Cabaro, F. Di Candia, S. Sestito, D. Melis, D. De Brasi, Maria Alessio, Vittoria D'Esposito, Stefano Pagano, Pietro Formisano, Marco Tartaglia, Daniela Concolino, V. Marchetti, Giuseppe Perruolo, A. De Luca
المساهمون: Siano, M A, Marchetti, V, Pagano, S, Di Candia, F, Alessio, M, De Brasi, D, De Luca, A, Pinna, V, Sestito, S, Concolino, D, Tartaglia, M, Strisciuglio, P, D'Esposito, V, Cabaro, S, Perruolo, G, Formisano, P, Melis, D
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: medicine.medical_specialty, Cellular immunity, Inflammatory cytokine, Antigens, CD19, Autoimmunity, CD8 T cells, RASopathy, medicine.disease_cause, Autoimmune Disease, Gastroenterology, Autoimmune Diseases, Immune system, Psoriasis, Internal medicine, medicine, Humans, Pharmacology (medical), Genetics (clinical), Autoimmune disease, Immunity, Cellular, biology, business.industry, Research, Autoantibody, General Medicine, medicine.disease, Inflammatory cytokines, CD8 T cell, biology.protein, Medicine, Antibody, business, Human
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8
المؤلفون: Giulio Piluso, Katharina Wimmer, Veronica Saletti, Eniko K. Pivnick, Geraldine Kelly-Mancuso, Karen W. Gripp, Cristin Griffis, Louanne Hudgins, Alessandro De Luca, Michael F. Wangler, M. Daniela D'Agostino, Marica Eoli, Cynthia M. Powell, Laura A. Baker, Mayra Martinez Ojeda, Silvia Esposito, Elizabeth A. Sellars, Kory Keller, David D. Weaver, James T. Bennett, Nicole J. Ullrich, Allison L. Goetsch, Donald Basel, Bruce R. Korf, Stephanie Fox, Katelyn Hodge, Laura Dosa, Robert S. Greenwood, Mario Bengala, Andrea M. Lewis, Ruth Sheffer, Valentina Pinna, Fanny Cortés, Dusica Babovic-Vuksanovic, Aaina Kochhar, Rosemarie Smith, Concepción Hernández-Chico, Elizabeth Siqveland, Robert Listernick, Lola K. Clarkson, Punita Gupta, E. Haan, Martin B. Delatycki, Amy Theos, Noa Ruhrman Shahar, Teresa Giugliano, Carey McDougall, Mitch Cunningham, David W. Stockton, Tom Callens, Maria Cristina Digilio, Yunjia Chen, Ludwine Messiaen, Eva Trevisson, Samantha A. Schrier Vergano, Caleb Rogers, Magdalena Koczkowska, Kathleen Claes, Christine Fauth, Jan Liebelt, Pamela Trapane, Eric Johns, John M. Slopis, Chelsea Chambers, Tamara L. Haygarth, Lesley K. McGregor, Alberto Spalice, Małgorzata J.M. Nowaczyk, Mary Ella M Pierpont, Kaleb Yohay, Alicia Gomes, Vickie Zurcher, Gail E. Tomlinson, Angie W. Lichty, Stephanie E Wallace, Rachel K. Hachen, Isabelle Maystadt, S. Lane Rutledge, Yael Goldberg, Grace Tran, Ulrich A. Schatz, Allison Schreiber, Jenneke van den Ende, Michael J. Lyons, Mary Louise Freckmann, Kim Armfield Uhas, Alesha D. Hicks, Maurizio Clementi, Haley Streff, June Ortenberg, John Pappas, Nancy J. Mendelsohn, Sandra Janssens, Karin Panzer, Yolanda Martin, Elaine H. Zackai, Sandra Giustini, Linlea Armstrong, Katherine A. Bosanko, Angela Sharp, Daryl A. Scott, Jonathan Zonana, Robert J. Hopkin, Eric Legius, Dinel A. Pond, Daniela Melis, Claudia Santoro, Sarah A. Sandaradura
المصدر: Human Mutation. 41:299-315
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, 0303 health sciences, medicine.medical_specialty, education.field_of_study, Pulmonic stenosis, 030305 genetics & heredity, Population, Spinal neurofibromas, Biology, medicine.disease, Phenotype, Gastroenterology, nervous system diseases, 03 medical and health sciences, Internal medicine, Cohort, Genetics, medicine, Missense mutation, Noonan syndrome, Neurofibromatosis, education, Genetics (clinical), 030304 developmental biology
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المؤلفون: Giulio Piluso, Paola Daniele, Roberta Mandile, Alessandro De Luca, Carmen Rosano, Marialetizia Motta, Luca Pannone, Valentina Pinna, Antonia Assunto, Claudia Santoro, Daniela Melis, Alessandra D'Amico, Maria Siano, Lorenzo Ugga, Lucio Mariniello, Simone Martinelli, Pietro Strisciuglio, Marco Tartaglia
مصطلحات موضوعية: PTPN11, Pathology, medicine.medical_specialty, business.industry, medicine, Brain mri, Neurofibromatosis, medicine.disease, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5261dc2b396cbe2a35d273361ad11e53
https://doi.org/10.1111/cge.14040/v2/response1 -
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المؤلفون: Luca Pannone, Daniela Melis, Marco Tartaglia, Lucio Mariniello, Alessandra D'Amico, Valentina Pinna, Giulio Piluso, Antonia Assunto, Carmen Rosano, Claudia Santoro, Paola Daniele, Marialetizia Motta, Lorenzo Ugga, Simone Martinelli, Pietro Strisciuglio, Maria Siano, Alessandro De Luca, Roberta Mandile
المساهمون: D'Amico, A., Rosano, C., Pannone, L., Pinna, V., Assunto, A., Motta, M., Ugga, L., Daniele, P., Mandile, R., Mariniello, L., Siano, M. A., Santoro, C., Piluso, G., Martinelli, S., Strisciuglio, P., De Luca, A., Tartaglia, M., Melis, D.
مصطلحات موضوعية: Male, Models, Molecular, Protein Conformation, DNA Mutational Analysis, Regulator, Protein Tyrosine Phosphatase, Non-Receptor Type 11, PTPN11, Models, Missense mutation, Noonan syndrome, Child, Genetics (clinical), Genetics, genetic modifier, Massive parallel sequencing, biology, Brain, Magnetic Resonance Imaging, Pedigree, Phenotype, Female, MRI, congenital, hereditary, and neonatal diseases and abnormalities, Neurofibromatosis 1, Adolescent, Mutation, Missense, RASopathy, Non-Receptor Type 11, Structure-Activity Relationship, Genes, Neurofibromatosis 1, medicine, Humans, Family, Genetic Predisposition to Disease, Neurofibromatosis, Genetic Association Studies, Molecular, genetic modifiers, medicine.disease, Neurofibromin 1, nervous system diseases, NF1, Mutation, Genes, biology.protein, Protein Tyrosine Phosphatase, Missense
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::375a98da083f71607fc5cc7491dd89a8
http://hdl.handle.net/11591/454719