检索结果 - Jonna Komulainen‐Ebrahim

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  1. 1
    A novel pathogenic SLC12A5 missense variant in epilepsy of infancy with migrating focal seizures causes impaired KCC2 chloride extrusion

    A novel pathogenic SLC12A5 missense variant in epilepsy of infancy with migrating focal seizures causes impaired KCC2 chloride extrusion 由 Viivi Järvelä, Mira Hamze, Jonna Komulainen‐Ebrahim, Elisa Rahikkala, Johanna Piispala, Mika Kallio, Salla M. Kangas, Tereza Nickl, Marko Huttula, Reetta Hinttala, Johanna Uusimaa, Igor Medina, Esa‐Ville Immonen

    出版 2024
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  2. 2
    Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms

    Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms 由 Bianca Tesi, Josef Davidsson, Matthias Voß, Elisa Rahikkala, Tim D. Holmes, Samuel C. C. Chiang, Jonna Komulainen‐Ebrahim, Sorina Gorcenco, A. Nilsson, Tim Ripperger, Hannaleena Kokkonen, David Bryder, Thoas Fioretos, Jan‐Inge Henter, Merja Möttönen, Riitta Niinimäki, Lars Nilsson, Cornelis Jan Pronk, Andreas Puschmann, Hong Qian, Johanna Uusimaa, Jukka S. Moilanen, Ulf Tedgård, Jörg Cammenga, Yenan T. Bryceson

    出版 2017
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    Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland

    Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland 由 Mitja Kurki, Elmo Saarentaus, Olli Pietiläinen, Padhraig Gormley, Dennis Lal, Sini Kerminen, Minna Torniainen‐Holm, Eija Hämäläinen, Elisa Rahikkala, Riikka Keski‐Filppula, Merja Rauhala, Satu Korpi-Heikkilä, Jonna Komulainen‐Ebrahim, Heli Helander, Päivi Vieira, Minna Männikkö, Markku Peltonen, Aki S. Havulinna, Veikko Salomaa, Matti Pirinen, Jaana Suvisaari, Jukka S. Moilanen, Jarmo Körkkö, Outi Kuismin, Mark J. Daly, Aarno Palotie

    出版 2019
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