Showing 1 - 4 results of 4 for search 'Kati Kämpjärvi', query time: 0.03s Refine Results
  1. 1
    Characterization of MED12, HMGA2, and FH alterations reveals molecular variability in uterine smooth muscle tumors

    Characterization of MED12, HMGA2, and FH alterations reveals molecular variability in uterine smooth muscle tumors by Netta Mäkinen, Kati Kämpjärvi, Norma Frizzell, Ralf Bützow, Pia Vahteristo

    Published 2017-06-01
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  2. 2
    P626: Clinical utility of structural variant calling using breakpoint analysis method for targeted NGS gene panels

    P626: Clinical utility of structural variant calling using breakpoint analysis method for targeted NGS gene panels by Lotta Koskinen, Margarita Andreevskaya, Mikko Muona, Tuuli Pietila, Janica Djupsjöbacka, Ville Kytölä, Kati Kämpjärvi, Samuel Myllykangas, Pertteli Salmenperä, Juha Koskenvuo, Miko Valori

    Published 2024-01-01
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  3. 3
    Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability

    Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability by Zelia Corradi, Mubeen Khan, Rebekkah Hitti-Malin, Ketan Mishra, Laura Whelan, Stéphanie S. Cornelis, Carel B. Hoyng, Kati Kämpjärvi, Caroline C.W. Klaver, Petra Liskova, Heidi Stöhr, Bernhard H.F. Weber, Sandro Banfi, G. Jane Farrar, Dror Sharon, Jana Zernant, Rando Allikmets, Claire-Marie Dhaenens, Frans P.M. Cremers

    Published 2023-10-01
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  4. 4
    Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes

    Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes by Rebekkah J. Hitti-Malin, Daan M. Panneman, Zelia Corradi, Erica G. M. Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard H. F. Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Sandro Banfi, Tamar Ben-Yosef, Damjan Glavač, G. Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P. Szaflik, Anna Matynia, Michael B. Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfride De Baere, Carel B. Hoyng, Catherina H. Z. Li, Caroline C. W. Klaver, Chris F. Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L. Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L. Vincent, Lisa Roberts, Raj Ramesar, Giovanna Sartor, Elena Luppi, Susan M. Downes, L. Ingeborgh van den Born, Terri L. McLaren, John N. De Roach, Tina M. Lamey, Jennifer A. Thompson, Fred K. Chen, Anna M. Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J. Bolz, Hülya Kayserili, Susanne Roosing, Frans P. M. Cremers

    Published 2024-03-01
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