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A human immunodeficiency syndrome caused by mutations in CARMIL2.
Published in:
Nature Communications, 2017, v. 8, n. 1, p. 14209, doi. 10.1038/ncomms14209
By:
- Schober, T.;
- Magg, T.;
- Laschinger, M.;
- Rohlfs, M.;
- Linhares, N. D.;
- Puchalka, J.;
- Weisser, T.;
- Fehlner, K.;
- Mautner, J.;
- Walz, C.;
- Hussein, K.;
- Jaeger, G.;
- Kammer, B.;
- Schmid, I.;
- Bahia, M.;
- Pena, S. D.;
- Behrends, U.;
- Belohradsky, B. H.;
- Klein, C.;
- Hauck, F.
Publication type:
Article
Uniparental disomy screen of Irish rare disorder cohort unmasks homozygous variants of clinical significance in the TMCO1 and PRKRA genes.
Published in:
Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.945296
By:
- Molloy, B.;
- Jones, E. R.;
- Linhares, N. D.;
- Buckley, P. G.;
- Leahy, T. R.;
- Lynch, B.;
- Knerr, I.;
- King, M. D.;
- Gorman, K. M.
Publication type:
Article