المؤلفون: Gregorio Serra, Clara Giambrone, Vincenzo Antona, Francesca Cardella, Maurizio Carta, Marcello Cimador, Giovanni Corsello, Mario Giuffrè, Vincenzo Insinga, Maria Cristina Maggio, Marco Pensabene, Ingrid Anne Mandy Schierz, Ettore Piro

المصدر: Italian Journal of Pediatrics, Vol 48, Iss 1, Pp 1-8 (2022)

مصطلحات موضوعية: CES, Supernumerary marker chromosome, Neonatal hypoglycemia, Cholestasis, Congenital hypopituitarism, Case report, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1824-7288

URL الوصول: https://doaj.org/article/f230bee370b44f85baf1efd9abfa1a8d

المؤلفون: Giovanni Corsello, Vincenzo Antona, Gregorio Serra, Federico Zara, Clara Giambrone, Luca Lagalla, Maria Piccione, Ettore Piro

المصدر: Italian Journal of Pediatrics, Vol 44, Iss 1, Pp 1-7 (2018)

مصطلحات موضوعية: NF1 gene, Genotype-phenotype correlation, New mutation, NF1 microdeletion syndrome, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13052-018-0483-z; https://doaj.org/toc/1824-7288

URL الوصول: https://doaj.org/article/e17ea9c344174a8098d249418cd756a1

المؤلفون: Martina D'Agostin, Maria Antonietta Catania, Clara Giambrone, Giovanni Corsello

المصدر: Medico e Bambino. 42:38-44

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9499b1558f37daf72d3c372f3b63f2e1
https://doi.org/10.53126/meb42038

المؤلفون: Mariangela Rotolo, Clara Giambrone, Francesco Graziano, Michele Citrano, Calogero Cilona, Riccardo Ganci, Nicola Cassata

المصدر: Medico e Bambino Pagine elettroniche. 25:115-118

مصطلحات موضوعية: Geography, Planning and Development, Management, Monitoring, Policy and Law

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::19bf3e9c780d5016834f50d2381b31cc
https://doi.org/10.53126/mebxxvg115

المؤلفون: Gregorio Serra, Federico Zara, Giovanni Corsello, Luca Lagalla, Maria Piccione, Clara Giambrone, Ettore Piro, Vincenzo Antona

المساهمون: Giovanni Corsello, Vincenzo Antona, Gregorio Serra, Federico Zara, Clara Giambrone, Luca Lagalla, Maria Piccione, Ettore Piro

المصدر: Italian Journal of Pediatrics
Italian Journal of Pediatrics, Vol 44, Iss 1, Pp 1-7 (2018)

مصطلحات موضوعية: 0301 basic medicine, Genotype-phenotype correlation, New mutation, NF1 gene, NF1 microdeletion syndrome, Adolescent, Adult, Age Factors, Child, Child, Preschool, Cohort Studies, DNA Mutational Analysis, Female, Genes, Neurofibromatosis 1, Genetic Association Studies, Genetic Predisposition to Disease, Humans, Italy, Male, Middle Aged, Neurofibromatosis 1, Prevalence, Prognosis, Retrospective Studies, Risk Assessment, Sex Factors, Young Adult, Mutation, Missense, Disease, 0302 clinical medicine, Genotype, Medicine, Young adult, lcsh:RJ1-570, Cohort, Cohort study, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, 03 medical and health sciences, Neurofibromatosis, Preschool, business.industry, Research, Retrospective cohort study, lcsh:Pediatrics, medicine.disease, Dermatology, 030104 developmental biology, Genes, Pediatrics, Perinatology and Child Health, Mutation, Missense, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4090aac99e2ecd85815a5681e4f8a51
https://pubmed.ncbi.nlm.nih.gov/29618358