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Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence

The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F09%3A5649" target="_blank" >RIV/00064203:_____/09:5649 - isvavai.cz</a>

  • Alternative codes found

    RIV/00216208:11130/09:5649

  • Result on the web

  • DOI - Digital Object Identifier

Alternative languages

  • Result language

    angličtina

  • Original language name

    Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence

  • Original language description

    Noonan syndrome (NS) and related disorders are caused by mutations in various genes encoding molecules involved in the RAS-MAPK signalling cascade.

  • Czech name

  • Czech description

Classification

  • Type

    J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

  • CEP classification

    EB - Genetics and molecular biology

  • OECD FORD branch

Result continuities

  • Project

    <a href="/en/project/NR9457" target="_blank" >NR9457: Optimising molecular cytogenetic and molecular genetic diagnostics of chromosomal aberrations in patients with mental retardation</a><br>

  • Continuities

    P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Others

  • Publication year

    2009

  • Confidentiality

    S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Data specific for result type

  • Name of the periodical

    European Journal of Medical Genetics

  • ISSN

    1769-7212

  • e-ISSN

  • Volume of the periodical

    52

  • Issue of the periodical within the volume

    5

  • Country of publishing house

    NL - THE KINGDOM OF THE NETHERLANDS

  • Number of pages

    4

  • Pages from-to

  • UT code for WoS article

    000270124300012

  • EID of the result in the Scopus database