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  1. TitleEIF2S3 mutations associated with severe X-Linked intellectual disability syndrome MEHMO
    Author Škopková Martina SAVBIOMED - Biomedicínske centrum SAV
    Co-authors Hennig Friederike
    Shin Byung-Sik
    Turner Clesson E.
    Staníková Daniela 1984 SAVBIOMED - Biomedicínske centrum SAV
    Brennerová Katarína
    Staník Juraj SAVBIOMED - Biomedicínske centrum SAV
    Fischer Ute
    Henden Lyndal
    Muller Ulrich
    Steinberger Daniela
    Leshinsky-Silver Esther
    Bottani Armand
    Kurdiová Timea SAVBIOMED - Biomedicínske centrum SAV
    Ukropec Jozef SAVBIOMED - Biomedicínske centrum SAV
    Nyitrayova Olga
    Kolníková Miriam
    Klimeš Iwar SAVBIOMED - Biomedicínske centrum SAV
    Borck Guntram
    Bahlo Melanie
    Haas Stefan A.
    Kim Joo-Ran
    Lotspeich-Cole Leda E.
    Gašperíková Daniela SAVBIOMED - Biomedicínske centrum SAV
    Dever Thomas E.
    Kalscheuer Vera M.
    Action TRANSENDOGEN. ITMS 26240220051
    APVV-0187-12. Identifikácia nových aspektov monogénových endokrinopatií metódou sekvenovania novej generácie : 2013-2017 : BMC-UEE
    VEGA 2/0166/14 : UEE
    Source document Human Mutation. Vol. 38, no. 4 (2017) p. 409-425
    CategoryADCA - Scientific papers in foreign journals registered in Current Contents Connect with IF (impacted)
    Category of document (from 2022)V3 - Vedecký výstup publikačnej činnosti z časopisu
    Type of documentčlánok
    Year2017
    DOI 10.1002/humu.23170
    File nameAccessSizeDownloadedTypeLicense
    EIF2S3 mutations associated with severe X-Linked intellectual disability syndrome MEHMO.pdfNeprístupný/archív2.2 MB3Author's preprint
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