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المؤلفون: Isabella Vasta, Bruno Dallapiccola, Francesca Atzeri, Cinzia Neri, Marco Tartaglia, Francesca Pantaleoni, Angelica Bibiana Delogu, Cheryl Cytrynbaum, Giovanni Neri, Emma De Feo, Andrea Ballabio, Anna Sarkozy, Angelo Selicorni, Claudio Carta, Gilda Cobellis, Edgar A. Pogna, Bruce D. Gelb, Katherine A. Rauen, Rosanna Weksberg, Giuseppe Zampino
المساهمون: Zampino, Giuseppe, Pantaleoni, Francesca, Carta, Claudio, Cobellis, Gilda, Vasta, Isabella, Neri, Cinzia, Pogna, Edgar A, De Feo, Emma, Delogu, Angelica, Sarkozy, Anna, Atzeri, Francesca, Selicorni, Angelo, Rauen, Katherine A, Cytrynbaum, Cheryl S, Weksberg, Rosanna, Dallapiccola, Bruno, Ballabio, Andrea, Gelb, Bruce D, Neri, Giovanni, Tartaglia, Marco, Zampino, G, Pantaleoni, F, Carta, C, Cobellis, G, Vasta, I, Neri, C, Pogna, E. A., DE FEO, E, Delogu, A, Sarkozy, A, Atzeri, F, Selicorni, A, Rauen, K. A., Cytrynbaum, C. S., Weksberg, R, Dallapiccola, B, Gelb, B. D., Neri, G, Tartaglia, M.
مصطلحات موضوعية: Parents, Adult, Male, Models, Molecular, DNA Mutational Analysis, Mutation, Missense, Biology, Cardiofaciocutaneous syndrome, medicine.disease_cause, Germline, DNA Mutational Analysi, Germline mutation, Costello syndrome, Genetics, medicine, Humans, Missense mutation, Abnormalities, Multiple, HRAS de novo, HRAS, Genetic Testing, Genetics (clinical), Germ-Line Mutation, Mutation, Infant, Newborn, Infant, Genetic Variation, Syndrome, Middle Aged, medicine.disease, Genes, ra, Pedigree, Genes, ras, Phenotype, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Parent, Child, Preschool, Noonan syndrome, Female, Human
وصف الملف: STAMPA
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3f2bf0f7519fc10b5f700cf06d72c48
http://hdl.handle.net/11591/407171 -
2مورد إلكتروني
مصطلحات الفهرس: Costello syndrome, HRAS de novo, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, info:eu-repo/semantics/article
URL:
http://hdl.handle.net/10807/37025
info:eu-repo/semantics/altIdentifier/wos/WOS:000244099500006
issue:28 (3)
firstpage:265
lastpage:272
numberofpages:8
issueyear:2007
journal:HUMAN MUTATION