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    Article

    An approach to recognising and identifying metabolic presentations in the paediatric Irish Traveller population

    The Irish Traveller population are an endogamous, traditionally nomadic, Irish population. Irish Travellers practice consanguinity in the majority of marriages, thus resulting in a higher rate of rare autosoma...

    E. B. Forman, S. A. Lynch, I. Knerr, A. Monavari… in European Journal of Pediatrics (2023)

  2. Article

    1094 BöRjeson - Forssman - Lehmann Syndrome: A Rare But Important Cause of Obesity

    Background & Aims: Börjeson - Forssman - Lehmann Syndrome (BFLS) is a rare X-linked condition characterized by obesity and developmental delay. Only nineteen unrelated cases of BFLS, with confirmed PHF6 mutati...

    A Carroll, A -M Murphy, H Hoey, S -A Lynch, N P Murphy in Pediatric Research (2010)

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