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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:UNIFESPمصطلحات 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
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2مورد إلكتروني
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