Showing 1 - 2 results of 2 for search 'Filipa M. Lopes', query time: 0.01s Refine Results
  1. 1
    Case Report: Prolonged survival in Schinzel–Giedion syndrome featuring megaureter and de novo SETBP1 mutation

    Case Report: Prolonged survival in Schinzel–Giedion syndrome featuring megaureter and de novo SETBP1 mutation by Glenda M. Beaman, Glenda M. Beaman, Benjamin W. Jarvis, Anju Goyal, David J. B. Keene, Max Cervellione, Filipa M. Lopes, Kay A. Metcalfe, Adrian S. Woolf, William G. Newman, William G. Newman

    Published 2025-03-01
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  2. 2
    Haploinsufficiency of ABL1 is associated with dominant isolated omphalocele

    Haploinsufficiency of ABL1 is associated with dominant isolated omphalocele by Caroline M. Kolvenbach, Caroline M. Kolvenbach, Caroline M. Kolvenbach, Öznur Yilmaz, Filipa M. Lopes, Jeshurun C. Kalanithy, Jeshurun C. Kalanithy, Katharina Lemberg, Katharina Lemberg, Vineeta Sharma, Amar J. Majmundar, Matthias Geyer, Adrian S. Woolf, Friedhelm Hildebrandt, Benjamin Odermatt, Benjamin Odermatt, Heiko Reutter

    Published 2025-08-01
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