المؤلفون: Arturo Tozzi, Lucio Mariniello

المصدر: Biomedicines, Vol 10, Iss 10, p 2581 (2022)

مصطلحات موضوعية: monocular cue, microcolumn, infinity topoi, globular set, embryonal neurulation, neurodata, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2227-9059/10/10/2581Test; https://doaj.org/toc/2227-9059Test

الوصول الحر: https://doaj.org/article/8c3d178f4f1147e9bab3e9d33f355b04Test

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

العلاقة: https://www.mdpi.com/2073-4425/10/9/675Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/fd8483b3d5e14404b7f5d130dbf395ddTest

المؤلفون: Arturo Tozzi, James Peters, Lucio Mariniello

مصطلحات موضوعية: Physics::Fluid Dynamics, applied_physics

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1262834db3287716118f10e4c3f2e41Test
https://doi.org/10.20944/preprints202206.0128.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

المؤلفون: Valentina Pinna 1, †, Paola Daniele 1, Giulio Calcagni 2, Lucio Mariniello 3, Roberta Criscione 1, 4, Chiara Giardina 1, Francesca Romana Lepri 5, Hossein Hozhabri 1, Angela Alberico 1, Stefania Cavone 1, Annunziata Tina Morella 1, Roberta Mandile 3, Francesca Annunziata 1, Niccolò Di Giosaffatte 1, Maria Cecilia D’Asdia 1, Paolo Versacci 4, Rossella Capolino 5, Pietro Strisciuglio 3, Sandra Giustini 6, Melis Daniela, Maria Cristina Digilio 5, Marco Tartaglia 5, Bruno Marino 4 and Alessandro De Luca 1

المساهمون: Valentina Pinna, 1, †, Paola Daniele, 1, Giulio Calcagni, 2, Lucio Mariniello, 3, Roberta Criscione, 1, 4, Chiara Giardina, 1, Francesca Romana Lepri, 5, Hossein Hozhabri, 1, Angela Alberico, 1, Stefania Cavone, 1, Annunziata Tina Morella, 1, Roberta Mandile, 3, Francesca Annunziata, 1, Niccolò Di Giosaffatte, 1, Maria Cecilia D’Asdia, 1, Paolo Versacci, 4, Rossella Capolino, 5, Pietro Strisciuglio, 3, Sandra Giustini, 6, Melis, Daniela, Maria Cristina Digilio, 5, Marco Tartaglia, 5, Bruno Marino, 4 and Alessandro De Luca 1

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000487954700065; firstpage:1; lastpage:14; numberofpages:14; journal:GENES; http://hdl.handle.net/11386/4732058Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85071740488

الإتاحة: http://hdl.handle.net/11386/4732058Test

المؤلفون: Annunziata Morella, Francesca Romana Lepri, Lucio Mariniello, Sandra Giustini, Maria Cecilia D'Asdia, Maria Cristina Digilio, Marco Tartaglia, Roberta Mandile, Valentina Pinna, Chiara Giardina, Roberta Criscione, Pietro Strisciuglio, Niccolò Di Giosaffatte, Paolo Versacci, Angela Alberico, Alessandro De Luca, Stefania Cavone, Hossein Hozhabri, Daniela Melis, Rossella Capolino, Giulio Calcagni, Bruno Marino, Paola Daniele, F. Annunziata

المصدر: Genes
Genes, Vol 10, Iss 9, p 675 (2019)
Volume 10
Issue 9

مصطلحات موضوعية: Adult, Heart Defects, Congenital, Male, 0301 basic medicine, medicine.medical_specialty, Neurofibromatosis 1, lcsh:QH426-470, Adolescent, Heart disease, 030105 genetics & heredity, neurofibromatosis type 1, Article, 03 medical and health sciences, Internal medicine, Mitral valve, Prevalence, Genetics, medicine, Noonan syndrome, Humans, Neurofibromatosis, Child, Genetics (clinical), pulmonary valve stenosis, Neurofibromin 1, business.industry, Infant, Odds ratio, Middle Aged, medicine.disease, congenital heart disease, lcsh:Genetics, non-truncating mutation, Phenotype, 030104 developmental biology, medicine.anatomical_structure, Italy, Dysplasia, Child, Preschool, Mutation, Cohort, Pulmonary valve stenosis, Cardiology, noonan syndrome, Female, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::344dfdc00ae6b556cf89458493e4b4b2Test
https://doi.org/10.3390/genes10090675Test