Skip to main content

2 Result(s)

within Article Remove this filter Nathalie Fieremans Remove this filter English Remove this filter

and

  1. No Access

    Article

    De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation

    Xq28 microduplications of MECP2 are a prominent cause of a severe syndromic form of intellectual disability (ID) in males. Females are usually unaffected through near to complete X-inactivation of the aberrant X ...

    Nathalie Fieremans, Marijke Bauters, Stefanie Belet, Jelle Verbeeck… in Human Genetics (2014)

  2. No Access

    Article

    The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability

    Loss-of-function mutations in several different neuronal pathways have been related to intellectual disability (ID). Such mutations often are found on the X chromosome in males since they result in functional ...

    Joke Vandewalle, Marijke Bauters, Hilde Van Esch, Stefanie Belet… in Human Genetics (2013)