يعرض 1 - 2 نتائج من 2 نتيجة بحث عن '"HRAS de novo"', وقت الاستعلام: 0.91s تنقيح النتائج
  1. 1
    Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome

    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

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  2. 2
    مورد إلكتروني
    Diversity parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome

    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

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