Works by Kokkonen, Hannaleena

Results: 8
    1

    Infantile onset encephalomyopathy, retinopathy, optic atrophy, and mitochondrial DNA depletion associated with a novel pathogenic DHX16 variant.

    Published in:
    Clinical Genetics, 2023, v. 104, n. 6, p. 686, doi. 10.1111/cge.14416
    By:
    • Hautakangas, Milla‐Riikka;
    • Widgren, Paula;
    • Korpelainen, Paavo;
    • Kangas, Salla M.;
    • Komulainen, Tuomas;
    • Vieira, Päivi;
    • Rahikkala, Elisa;
    • Pylkäs, Katri;
    • Tuominen, Hannu;
    • Kokkonen, Hannaleena;
    • Miinalainen, Ilkka;
    • Nadaf, Javad;
    • Majewski, Jacek;
    • Hinttala, Reetta;
    • Uusimaa, Johanna
    Publication type:
    Article
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    7

    More invasive procedures are done to detect each case of Down's syndrome in younger women.

    Published in:
    Acta Obstetricia et Gynecologica Scandinavica, 2011, v. 90, n. 6, p. 642, doi. 10.1111/j.1600-0412.2011.01113.x
    By:
    • MARTTALA, JAANA;
    • RANTA, JENNI K.;
    • KAIJOMAA, MARJA;
    • NIEMINEN, PENTTI;
    • LAITINEN, PAIVI;
    • KOKKONEN, HANNALEENA;
    • ROMPPANEN, JARKKO;
    • HAMALAINEN, ESA;
    • KULTTI, JOHANNA;
    • TEKAY, AYDIN;
    • ULANDER, VELI-MATTI;
    • HONKASALO, TIMPPA;
    • RYYNANEN, MARKKU
    Publication type:
    Article
    8

    Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland.

    Published in:
    Human Genetics, 2021, v. 140, n. 7, p. 1011, doi. 10.1007/s00439-021-02268-1
    By:
    • Järvelä, Irma;
    • Määttä, Tuomo;
    • Acharya, Anushree;
    • Leppälä, Juha;
    • Jhangiani, Shalini N.;
    • Arvio, Maria;
    • Siren, Auli;
    • Kankuri-Tammilehto, Minna;
    • Kokkonen, Hannaleena;
    • Palomäki, Maarit;
    • Varilo, Teppo;
    • Fang, Mary;
    • Hadley, Trevor D.;
    • Jolly, Angad;
    • Linnankivi, Tarja;
    • Paetau, Ritva;
    • Saarela, Anni;
    • Kälviäinen, Reetta;
    • Olme, Jan;
    • Nouel-Saied, Liz M.
    Publication type:
    Article