Search Results - Sally Ann Lynch

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    A novel NAA10 p.(R83H) variant with impaired acetyltransferase activity identified in two boys with ID and microcephaly by Rasmus Ree, Anni Sofie Geithus, Pernille Mathiesen Tørring, Kristina Pilekær Sørensen, Mads Damkjær, DDD study, Sally Ann Lynch, Thomas Arnesen

    Published 2019
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    Barriers and Considerations for Diagnosing Rare Diseases in Indigenous Populations by Carla S. D'Angelo, Azure Hermes, Christopher R. McMaster, Elissa Prichep, Étienne Richer, Francois H. van der Westhuizen, Gabriela M. Repetto, Gong Mengchun, Helen Malherbe, Helen Malherbe, Juergen K. V. Reichardt, Laura Arbour, Maui Hudson, Kelly du Plessis, Melissa Haendel, Phillip Wilcox, Sally Ann Lynch, Sally Ann Lynch, Shamir Rind, Simon Easteal, Xavier Estivill, Yarlalu Thomas, Gareth Baynam, Gareth Baynam, Gareth Baynam, Gareth Baynam, Gareth Baynam, Gareth Baynam, Gareth Baynam, Gareth Baynam

    Published 2020
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