يعرض 1 - 20 نتائج من 25 نتيجة بحث عن '"Kosińska, J"', وقت الاستعلام: 0.45s تنقيح النتائج
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    مصطلحات موضوعية: Function and Dysfunction of the Nervous System

    Relation: Neurodevelopmental disorder associated with IRF2BPL gene mutation: expanding the phenotype? Skorvanek, M. and Dusek, P. and Rydzanicz, M. and Walczak, A. and Kosinska, J. and Kostrzewa, G. and Rydzanicz, M. and Han, V. and Dosekova, P. and Gdovinova, Z. and Lehotska, Z. and Lisowski, P. and Ploski, R. Parkinsonism & Related Disorders 62 : 239-241. 24 January 2019

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    Academic Journal
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    Academic Journal

    Relation: Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expression. Rydzanicz, M. and Wachowska, M. and Cook, E.C. and Lisowski, P. and Kuźniewska, B. and Szymańska, K. and Diecke, S. and Prigione, A. and Szczałuba, K. and Szybińska, A. and Koppolu, A. and Murcia Pienkowski, V. and Kosińska, J. and Wiweger, M. and Kostrzewa, G. and Brzozowska, M. and Domańska-Pakieła, D. and Jurkiewicz, E. and Stawiński, P. and Gromadka, A. and Zielenkiewicz, P. and Demkow, U. and Dziembowska, M. and Kuźnicki, J. and Creamer, T.P. and Płoski, R. European Journal of Human Genetics 27 (1): 61-69. January 2019

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    Conference
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    Periodical
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    Academic Journal