يعرض 1 - 2 نتائج من 2 نتيجة بحث عن '"Nooan syndrome, cardio-facio-cutaneous"', وقت الاستعلام: 0.94s تنقيح النتائج
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    Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome

    المؤلفون: Judith Allanson, Klaudiusz Luczak, Hans Gerd Kehl, Gabriele Krüger, Marco Tartaglia, Martin Zenker, Thomas Neumann, Beate Albrecht, Hartmut Peters, Rohan Laurie, Kate Gibson, Vera M. Kalscheuer, Giovanni Neri, Viviana Cordeddu, Luciana Musante, Timm O. Goecke, Andreas Tzschach, Maria Hoeltzenbein, Bronwyn Kerr, Ines Kavamura, Maria M. Sasiadek, Jacqueline A. Noonan

    المساهمون: Univ Erlangen Nurnberg, Univ Hosp Munster, Childrens Hosp Eastern Ontario, Universidade Federal de São Paulo (UNIFESP), Royal Manchester Childrens Hosp, Univ Cattolica, Univ Kentucky, Ist Super Sanita, Royal Childrens Hosp, Max Planck Inst Mol Genet, Univ Hosp Rostock, Univ Hosp Dusseldorf, Univ Hosp Essen, Wroclaw Med Univ, Mater Pathol Serv, Univ Hosp Charite

    المصدر: Repositório Institucional da UNIFESP
    Universidade Federal de São Paulo (UNIFESP)
    instacron:UNIFESP

    مصطلحات موضوعية: cardio-facio-cutaneous, Adult, Male, inorganic chemicals, endocrine system, Adolescent, Heart Diseases, MAP Kinase Signaling System, Settore MED/03 - GENETICA MEDICA, medicine.disease_cause, Giant Cells, Skin Diseases, LEOPARD Syndrome, Article, cardio-facio-cutaneous syndrome, Cohort Studies, Genetics, medicine, Noonan syndrome, Humans, Abnormalities, Multiple, Child, Genetics (clinical), Mutation, business.industry, multiple giant cell lesions, Noonan-like/multiple giant cell lesion syndrome, Noonan Syndrome, Syndrome, medicine.disease, Osteochondrodysplasia, PTPN11, Phenotype, Giant cell, ras Proteins, Cancer research, SOS1, Female, Nooan syndrome, KRAS, business, Nooan syndrome, cardio-facio-cutaneous, RAS-MAPK signaling cascade

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::230eaa24a221affdff49d7f886ce2a02
    https://doi.org/10.1038/ejhg.2008.188

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  2. 2
    مورد إلكتروني
    Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome

    مصطلحات الفهرس: Nooan syndrome, cardio-facio-cutaneous, Settore MED/03 - GENETICA MEDICA, info:eu-repo/semantics/article

    URL: http://hdl.handle.net/10807/15829
    issue:Ottobre
    firstpage:420
    lastpage:425
    numberofpages:6
    issueyear:2011
    journal:EUROPEAN JOURNAL OF HUMAN GENETICS

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