يعرض 1 - 3 نتائج من 3 نتيجة بحث عن '"EIEE9"', وقت الاستعلام: 0.35s تنقيح النتائج
  1. 1
    Academic Journal
    Two novel PCDH19 mutations in Russian patients with epilepsy with intellectual disability limited to females: a case report

    المؤلفون: Anastasiya Aleksandrovna Kozina, Elena Grigorievna Okuneva, Natalia Vladimirovna Baryshnikova, Inessa Dmitrievna Fedonyuk, Alexey Aleksandrovich Kholin, Elena Stepanovna Il’ina, Anna Yurievna Krasnenko, Ivan Fedorovich Stetsenko, Nikolay Alekseevich Plotnikov, Olesia Igorevna Klimchuk, Ekaterina Ivanovna Surkova, Valery Vladimirovich Ilinsky

    المصدر: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-7 (2020)

    مصطلحات موضوعية: Epilepsy with intellectual disability limited to females, EIEE9, PCDH19, Protocadherin 19, Case report, Internal medicine, RC31-1245, Genetics, QH426-470

    وصف الملف: electronic resource

    Relation: http://link.springer.com/article/10.1186/s12881-020-01119-6; https://doaj.org/toc/1471-2350

    URL الوصول: https://doaj.org/article/e0501934cf2640a1bfa785a5bdafcdc1

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  2. 2
    Academic Journal
    PCDH19-Related Epilepsies

    المؤلفون: Mazzurco, Marina, Pulvirenti, Giulio, Caccamo, Martina, Presti, Santiago, Soma, Rachele, Salafia, Stefania, Praticò, Elena R., Filosco, Federica, Falsaperla, Raffaele, Praticò, Andrea D.

    المساهمون: Mazzurco, Marina, Pulvirenti, Giulio, Caccamo, Martina, Presti, Santiago, Soma, Rachele, Salafia, Stefania, Praticò, Elena R., Filosco, Federica, Falsaperla, Raffaele, Praticò, Andrea D.

    مصطلحات موضوعية: PCDH19, epilepsy, female, intellectual disability, febrile seizures, EIEE9, Dravet syndrome

    وصف الملف: STAMPA

    Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000652704900012; volume:21; issue:4; firstpage:312; lastpage:319; numberofpages:8; journal:JOURNAL OF PEDIATRIC NEUROLOGY; https://hdl.handle.net/11392/2538771

    الاتاحة: https://hdl.handle.net/11392/2538771
    https://doi.org/10.1055/s-0041-1728641
    https://www.thieme-connect.de/products/ejournals/abstract/10.1055/s-0041-1728641

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  3. 3
    Academic Journal
    The role of Protocadherin 19 (PCDH19) in neurodevelopment and in the pathophysiology of early infantile epileptic encephalopathy-9 (EIEE9)

    المؤلفون: Gerosa, Laura, Francolini, Maura, Bassani, Silvia, Passafaro, Maria

    المساهمون: L. Gerosa, M. Francolini, S. Bassani, M. Passafaro

    مصطلحات موضوعية: EIEE9, PCDH19, autism spectrum disorder, epilepsy, intellectual disability, Settore BIO/13 - Biologia Applicata

    Relation: info:eu-repo/semantics/altIdentifier/pmid/30431232; info:eu-repo/semantics/altIdentifier/wos/WOS:000456599600007; volume:79; issue:1; firstpage:75; lastpage:84; numberofpages:10; journal:DEVELOPMENTAL NEUROBIOLOGY; http://hdl.handle.net/2434/602680; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85059832645

    الاتاحة: http://hdl.handle.net/2434/602680
    https://doi.org/10.1002/dneu.22654

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