Found: 14
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Elevated cerebrospinal fluid protein in POLG‐related epilepsy: Diagnostic and prognostic implications.
- Published in:
- Epilepsia (Series 4), 2018, v. 59, n. 8, p. 1595, doi. 10.1111/epi.14459
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- Publication type:
- Article
Erratum to: The presence of anaemia negatively influences survival in patients with POLG disease.
- Published in:
- 2018
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- Publication type:
- Erratum
The presence of anaemia negatively influences survival in patients with POLG disease.
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 6, p. 861, doi. 10.1007/s10545-017-0084-9
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- Publication type:
- Article
Prolonged intestinal transit and diarrhea in patients with an activating GUCY2C mutation.
- Published in:
- PLoS ONE, 2017, v. 12, n. 9, p. 1, doi. 10.1371/journal.pone.0185496
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- Publication type:
- Article
RareVariantVis: new tool for visualization of causative variants in rare monogenic disorders using whole genome sequencing data.
- Published in:
- Bioinformatics, 2016, v. 32, n. 19, p. 3018, doi. 10.1093/bioinformatics/btw359
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- Publication type:
- Article
Syndromic X-linked intellectual disability segregating with a missense variant in RLIM.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1652, doi. 10.1038/ejhg.2015.30
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- Publication type:
- Article
Diagnostisk suksess med fallgruver.
- Published in:
- Journal of the Norwegian Medical Association / Tidsskrift for Den Norske Laegeforening, 2015, v. 135, n. 20, p. 1812, doi. 10.4045/tidsskr.15.1062
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- Publication type:
- Article
Friedreich ataxia in Norway - an epidemiological, molecular and clinical study.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0328-4
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- Publication type:
- Article
Friedreich ataxia in Norway -- an epidemiological, molecular and clinical study.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0328-4
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- Publication type:
- Article
STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 2, doi. 10.1186/s13023-014-0146-0
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- Publication type:
- Article
STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity.
- Published in:
- 2014
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- Publication type:
- journal article
Tre søsken med økende pustevansker som spedbarn.
- Published in:
- Journal of the Norwegian Medical Association / Tidsskrift for Den Norske Laegeforening, 2013, n. 14, p. 1459, doi. 10.4045/tidsskr.12.0844
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- Publication type:
- Article
Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis.
- Published in:
- Nature Genetics, 2009, v. 41, n. 1, p. 95, doi. 10.1038/ng.270
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- Publication type:
- Article
Response of the methionine synthase system to short-term culture with homocysteine and nitrous oxide and its relation to methionine dependence.
- Published in:
- International Journal of Cancer, 1997, v. 72, n. 2, p. 301, doi. 10.1002/(SICI)1097-0215(19970717)72:2<301::AID-IJC17>3.0.CO;2-I
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- Publication type:
- Article