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المؤلفون: Marco Tartaglia, Giovanni Battista Ferrero, Bruno Dallapiccola, Monia Magliozzi, Lorenzo Stella, Bruce D. Gelb, Giuseppina Baldassarre, Federica Consoli, Giovanni Sorge, Alessandro De Luca, Luca Pannone, Maria Accadia, Sigrid Tinschert, Christina Lissewski, Kadri Karaer, Massimiliano Anselmi, Francesca Pantaleoni, Cesare Rossi, Simone Martinelli, Silvia Delle Vigne, Elisabetta Flex, Maria Cristina Digilio, Gianfranco Bocchinfuso, Goran Cuturilo, Hélène Cavé, Giuseppe Zampino, Francesca Romana Lepri, Martin Zenker, Alessandro Sartorio
المصدر: Human Mutation. 38:451-459
مصطلحات موضوعية: 0301 basic medicine, Genetics, Mutation, Protein domain, Protein tyrosine phosphatase, Biology, medicine.disease_cause, medicine.disease, PTPN11, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Germline mutation, Mutant protein, 030220 oncology & carcinogenesis, medicine, Noonan syndrome, Missense mutation, Genetics (clinical)
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المؤلفون: Luca Pannone, Gianfranco Bocchinfuso, Elisabetta Flex, Cesare Rossi, Giuseppina Baldassarre, Christina Lissewski, Francesca Pantaleoni, Federica Consoli, Francesca Lepri, Monia Magliozzi, Massimiliano Anselmi, Silvia Delle Vigne, Giovanni Sorge, Kadri Karaer, Goran Cuturilo, Alessandro Sartorio, Sigrid Tinschert, Maria Accadia, Maria C. Digilio, Giuseppe Zampino, Alessandro De Luca, Hélène Cavé, Martin Zenker, Bruce D. Gelb, Bruno Dallapiccola, Lorenzo Stella, Giovanni B. Ferrero, Simone Martinelli, Marco Tartaglia
المصدر: Human Mutation. 38:i-i
مصطلحات موضوعية: Genetics, Genetics (clinical)
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المؤلفون: Bruce D. Gelb, Gilda Sabetta, Gianfranco Bocchinfuso, Paola Torreri, Luisa Castagnoli, Simone Martinelli, Silvia Delle Vigne, Gianni Cesareni, Marco Tartaglia, Serenella Venanzi, Aurelio Pio Nardozza, Elisabetta Flex, Antonio Palleschi, Lorenzo Stella
المصدر: The Journal of Biological Chemistry
مصطلحات موضوعية: Models, Molecular, Protein Structure, SH2 Domains, Phosphatase, Mutant, Molecular Sequence Data, Protein Tyrosine Phosphatase, Non-Receptor Type 11, Phosphorylation, Humans, Amino Acid Sequence, Noonan Syndrome, Molecular Dynamics Simulation, Mutation, src Homology Domains, Protein tyrosine phosphatase, Biology, SH2 domain, Biochemistry, Non-Receptor Type 11, Protein structure, Models, medicine, Molecular Biology, Genetics, Molecular, Molecular Bases of Disease, Cell Biology, medicine.disease, PTPN11, Settore BIO/18 - Genetica, Protein-tyrosine Phosphatase (Tyrosine Phosphatase), Genetic Diseases, Noonan syndrome, SHP2, Protein Tyrosine Phosphatase, Proto-oncogene tyrosine-protein kinase Src, Signal Transduction
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac641f9aa8a98a65ca57e14014b78e86
http://hdl.handle.net/11573/560602 -
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المؤلفون: Simone Martinelli, Silvia Delle Vigne, Carlo Dominici, Heather P. McDowell, Marco Tartaglia, George Kokai, Stefania Uccini
مصطلحات موضوعية: Neuroblastoma RAS viral oncogene homolog, Male, Proto-Oncogene Proteins B-raf, Cancer Research, Adolescent, MAP Kinase Kinase 2, MAP Kinase Kinase 1, Kaplan-Meier Estimate, Biology, medicine.disease_cause, Cell Line, Tumor, Proto-Oncogene Proteins, Genetics, medicine, Missense mutation, Humans, Rhabdomyosarcoma, Embryonal, HRAS, Rhabdomyosarcoma, Child, Protein Tyrosine Phosphatase, Non-Receptor Type 1, Mutation, medicine.disease, PTPN11, Immunology, Cancer research, ras Proteins, Female, Embryonal rhabdomyosarcoma, KRAS, Signal Transduction
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89c7467cafe41a1cb5891365e707ebee
http://hdl.handle.net/11573/229075