يعرض 1 - 2 نتائج من 2 نتيجة بحث عن '"Toriello, Gianpiero"', وقت الاستعلام: 0.82s تنقيح النتائج
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    A case series of adult patients affected by EAST/SeSAME syndrome suggests more severe disease in subjects bearing KCNJ10 truncating mutations

    المؤلفون: Suzumoto, Yoko, Columbano, Valeria, Gervasi, Luciano, Giunta, Rosa, Mattina, Teresa, Trimarchi, Gabriele, Capolongo, Giovanna, Simeoni, Mariadelina, Perna, Alessandra F, Zacchia, Miriam, Toriello, Gianpiero, Pollastro, Rosa M, Rapisarda, Francesco, Capasso, Giovambattista, Trepiccione, Francesco

    المساهمون: Suzumoto, Yoko, Columbano, Valeria, Gervasi, Luciano, Giunta, Rosa, Mattina, Teresa, Trimarchi, Gabriele, Capolongo, Giovanna, Simeoni, Mariadelina, Perna, Alessandra F, Zacchia, Miriam, Toriello, Gianpiero, Pollastro, Rosa M, Rapisarda, Francesco, Capasso, Giovambattista, Trepiccione, Francesco

    المصدر: Intractable Rare Dis Res

    مصطلحات موضوعية: Kir4.1, tubulopathy, Brief Report, potassium channel

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::ee7d071da27673acf8b0db76ba562d92
    https://europepmc.org/articles/PMC8122315/

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  2. 2
    دورية أكاديمية
    A case series of adult patients affected by EAST/SeSAME syndrome suggests more severe disease in subjects bearing KCNJ10 truncating mutations.

    المؤلفون: Suzumoto Y; Biogem Research Institute, Ariano Irpino, Italy., Columbano V; Department of Translational Medical Sciences, University of Campania 'L. Vanvitelli', Naples, Italy., Gervasi L; School of Nephrology, Department of Clinical and Experimental Medicine, University of Catania, Italy., Giunta R; School of Nephrology, Department of Clinical and Experimental Medicine, University of Catania, Italy., Mattina T; Department of Biomedical and Biotechnological Sciences, University of Catania, Italy., Trimarchi G; Department of Biomedical and Biotechnological Sciences, University of Catania, Italy., Capolongo G; Department of Translational Medical Sciences, University of Campania 'L. Vanvitelli', Naples, Italy., Simeoni M; Department of Translational Medical Sciences, University of Campania 'L. Vanvitelli', Naples, Italy., Perna AF; Department of Translational Medical Sciences, University of Campania 'L. Vanvitelli', Naples, Italy., Zacchia M; Department of Translational Medical Sciences, University of Campania 'L. Vanvitelli', Naples, Italy., Toriello G; Nefrology Unit, 'L. Curto Hospital', Polla, Italy., Pollastro RM; Department of Translational Medical Sciences, University of Campania 'L. Vanvitelli', Naples, Italy., Rapisarda F; School of Nephrology, Department of Clinical and Experimental Medicine, University of Catania, Italy., Capasso G; Biogem Research Institute, Ariano Irpino, Italy.; Department of Translational Medical Sciences, University of Campania 'L. Vanvitelli', Naples, Italy., Trepiccione F; Biogem Research Institute, Ariano Irpino, Italy.; Department of Translational Medical Sciences, University of Campania 'L. Vanvitelli', Naples, Italy.

    المصدر: Intractable & rare diseases research [Intractable Rare Dis Res] 2021 May; Vol. 10 (2), pp. 95-101.

    نوع المنشور: Journal Article

    بيانات الدورية: Publisher: International Advancement Center for Medicine & Health Research Co. (IACMHR Co.) Country of Publication: Japan NLM ID: 101586847 Publication Model: Print Cited Medium: Print ISSN: 2186-3644 (Print) Linking ISSN: 21863644 NLM ISO Abbreviation: Intractable Rare Dis Res Subsets: PubMed not MEDLINE

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