يعرض 1 - 3 نتائج من 3 نتيجة بحث عن '"sindrome di Costello"', وقت الاستعلام: 0.76s تنقيح النتائج
  1. 1
    FOLLOW UP DI UN CASO DI SINDROME DI COSTELLO CON PUBERTA’ PRECOCE

    المؤلفون: CORSELLO, Giovanni, MAGGIO, Maria Cristina, LAGALLA, L, SERRAINO, F

    المساهمون: CORSELLO, G, LAGALLA, L, SERRAINO, F, MAGGIO, MC

    مصطلحات موضوعية: PUBERTA’ PRECOCE, Settore MED/38 - Pediatria Generale E Specialistica, SINDROME DI COSTELLO

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3658::1c31c0b8804b099c645eb2f94936201e
    http://hdl.handle.net/10447/115941

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  2. 2
    Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome

    المؤلفون: Caroline Nava, Giovanni Neri, Louise C. Wilson, Shigeru Tsuchiya, Yoko Narumi, Nobuhiko Okamoto, Hirofumi Ohashi, Hélène Cavé, Kiyoko Sameshima, Etsuro Ito, Alain Verloes, Raoul C.M. Hennekam, Pablo Lapunzina, Yoshio Makita, Yoko Aoki, Kumi Kato, Tetsuya Niihori, Dagmar Wieczorek, Yoichi Matsubara, Gabriele Gillessen-Kaesbach, Ikuko Kondo, Kenji Kurosawa, Maria Ines Kavamura, Shigeo Kure

    المساهمون: ANS - Amsterdam Neuroscience, APH - Amsterdam Public Health, Paediatric Genetics

    المصدر: American journal of medical genetics. Part A, 143A(8), 799-807. Wiley-Liss Inc.

    مصطلحات موضوعية: Heart Defects, Congenital, Proto-Oncogene Proteins B-raf, medicine.medical_specialty, Genotype, DNA Mutational Analysis, MAP Kinase Kinase 2, MAP Kinase Kinase 1, MAP2K2, Cardiofaciocutaneous syndrome, medicine.disease_cause, Settore MED/03 - GENETICA MEDICA, Craniofacial Abnormalities, Diagnosis, Differential, Costello syndrome, Intellectual Disability, Internal medicine, Genetics, medicine, Humans, Abnormalities, Multiple, HRAS, neoplasms, Genetics (clinical), Molecular Epidemiology, sindrome di Costello, genetica clinica, business.industry, sindrome CFC, Syndrome, medicine.disease, Dermatology, Osteochondrodysplasia, digestive system diseases, PTPN11, Phenotype, Endocrinology, Case-Control Studies, Skin Abnormalities, ras Proteins, Noonan syndrome, KRAS, business, Signal Transduction

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa18dd772ac81ffe65cfdcd5ce6bc07b
    http://hdl.handle.net/10807/15734

    View record at Wiley
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  3. 3
    مورد إلكتروني
    Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.

    مصطلحات الفهرس: sindrome CFC, sindrome di Costello, genetica clinica, Settore MED/03 - GENETICA MEDICA, info:eu-repo/semantics/article

    URL: http://hdl.handle.net/10807/15734
    issue:143
    firstpage:799
    lastpage:807
    numberofpages:9
    issueyear:2007
    journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

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