Showing 1 - 2 results of 2 for search 'N. D. Linhares', query time: 0.02s Refine Results
  1. 1
    Uniparental disomy screen of Irish rare disorder cohort unmasks homozygous variants of clinical significance in the TMCO1 and PRKRA genes

    Uniparental disomy screen of Irish rare disorder cohort unmasks homozygous variants of clinical significance in the TMCO1 and PRKRA genes by B. Molloy, E. R. Jones, N. D. Linhares, P. G. Buckley, T. R. Leahy, T. R. Leahy, B. Lynch, B. Lynch, I. Knerr, I. Knerr, M. D. King, M. D. King, K. M. Gorman, K. M. Gorman

    Published 2022-09-01
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  2. 2
    A human immunodeficiency syndrome caused by mutations in CARMIL2

    A human immunodeficiency syndrome caused by mutations in CARMIL2 by T. Schober, T. Magg, M. Laschinger, M. Rohlfs, N. D. Linhares, J. Puchalka, T. Weisser, K. Fehlner, J. Mautner, C. Walz, K. Hussein, G. Jaeger, B. Kammer, I. Schmid, M. Bahia, S. D. Pena, U. Behrends, B. H. Belohradsky, C. Klein, F. Hauck

    Published 2017-01-01
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