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Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction.
Published in:
Clinical Genetics, 2020, v. 97, n. 4, p. 556, doi. 10.1111/cge.13706
By:
- Panneman, Daan M.;
- Wortmann, Saskia B.;
- Haaxma, Charlotte A.;
- Hasselt, Peter M.;
- Wolf, Nicole I.;
- Hendriks, Yvonne;
- Küsters, Benno;
- Emst‐de Vries, Sjenet;
- Westerlo, Els;
- Koopman, Werner J.H.;
- Wintjes, Liesbeth;
- Brandt, Frans;
- Vries, Maaike;
- Lefeber, Dirk J.;
- Smeitink, Jan A.M.;
- Rodenburg, Richard J.
Publication type:
Article
Quantifying small molecule phenotypic effects using mitochondrial morpho-functional fingerprinting and machine learning.
Published in:
Scientific Reports, 2015, p. 8035, doi. 10.1038/srep08035
By:
- Blanchet, Lionel;
- Smeitink, Jan A. M.;
- van Emst - de Vries, Sjenet E.;
- Vogels, Caroline;
- Pellegrini, Mina;
- Jonckheere, An I.;
- Rodenburg, Richard J. T.;
- Buydens, Lutgarde M. C.;
- Beyrath, Julien;
- Willems, Peter H. G. M.;
- Koopman, Werner J. H.
Publication type:
Article