المؤلفون: Ursula Pia Ferrara, Cristina Tortora, Carmen Rosano, Antonia Assunto, Alessandro Rossi, Stefano Pagano, Mariateresa Falco, Chiara Simeoli, Rosario Ferrigno, Alessandra D’Amico, Dario Di Salvio, Giuliana Cangemi, Rosario Pivonello, Pietro Strisciuglio, Daniela Melis

المصدر: Scientific Reports, Vol 12, Iss 1, Pp 1-9 (2022)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2045-2322Test

الوصول الحر: https://doaj.org/article/76fc759798784ef096125f852a0de767Test

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

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/d2b501bb28264f1d99b6e475cf978331Test

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 Diseases

مصطلحات 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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7055a3371150e78f7564414d04e33fcaTest
https://doaj.org/article/d2b501bb28264f1d99b6e475cf978331Test

المؤلفون: Mariateresa Falco, Pietro Strisciuglio, Ilaria De Maggio, Fortunato Lonardo, Daniela Melis, Gabriella Maria Squeo, Giuseppe Merla, Gerarda Cappuccio, Gioacchino Scarano, Carmen Rosano, Maria Siano, Claudia Mandato, Carmelo Piscopo, Paolo Fontana, Francesca Di Candia, P. Paglia, Daniele De Brasi, Matteo Della Monica

المساهمون: Di Candia, Francesca, Fontana, Paolo, Paglia, Pamela, Falco, Mariateresa, Rosano, Carmen, Piscopo, Carmelo, Cappuccio, Gerarda, Siano, Maria Anna, De Brasi, Daniele, Mandato, Claudia, De Maggio, Ilaria, Squeo, Gabriella Maria, Monica, Matteo Della, Scarano, Gioacchino, Lonardo, Fortunato, Strisciuglio, Pietro, Merla, Giuseppe, Melis, Daniela

المصدر: European Journal of Pediatrics

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Microcephaly, Pediatrics, medicine.medical_specialty, Adolescent, Neurological features, Autoimmunity, Vitiligo, 030105 genetics & heredity, Brain anomalie, 03 medical and health sciences, Young Adult, Intellectual disability, Medicine, Humans, Brain anomalies, Kabuki syndrome, Child, Face, Female, Retrospective Studies, Abnormalities, Multiple, Hematologic Diseases, Vestibular Diseases, Hypertelorism, Strabismus, Immunodeficiency, business.industry, medicine.disease, 030104 developmental biology, Pediatrics, Perinatology and Child Health, Cohort, Original Article, medicine.symptom, Abnormalities, business, Multiple

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d297000022926bc6fd87f0ad960111bcTest
http://europepmc.org/articles/PMC8760211Test

المؤلفون: Cristina Tortora, Chiara Simeoli, Antonia Assunto Bd, Giuliana Cangemi, Alessandra D'Amico, Daniela Melis, Carmen Rosano Bd, Pietro Strisciuglio, A. Rossi, Ursula Ferrara, Mariateresa Falco, Rosario Ferrigno, Rosario Pivonello, Stefano Pagano, Dario Salvio

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, business.industry, Physical activity, Medicine, Physiology, Type 1 Neurofibromatosis, In patient, Sun exposure, business, Bone remodeling

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::15f22d553a638325da7e4e902fa18a18Test
https://doi.org/10.21203/rs.3.rs-787889/v1Test

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5261dc2b396cbe2a35d273361ad11e53Test
https://doi.org/10.1111/cge.14040/v2/response1Test

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::375a98da083f71607fc5cc7491dd89a8Test
http://hdl.handle.net/11591/454719Test