Found: 15
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Rare genetic variation in mitochondrial pathways influences the risk for Parkinson's disease.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Targeted next-generation sequencing reveals MODY in up to 6.5% of antibody-negative diabetes cases listed in the Norwegian Childhood Diabetes Registry.
- Published in:
- Diabetologia, 2017, v. 60, n. 4, p. 625, doi. 10.1007/s00125-016-4167-1
- By:
- Publication type:
- Article
No evidence for rare TRAP1 mutations influencing the risk of idiopathic Parkinson's disease.
- Published in:
- 2018
- By:
- Publication type:
- letter
Beyond GWAS—Could Genetic Differentiation within the Allograft Rejection Pathway Shape Natural Immunity to COVID-19?
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 11, p. 6272, doi. 10.3390/ijms23116272
- By:
- Publication type:
- Article
A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis.
- Published in:
- Nature Genetics, 2015, v. 47, n. 5, p. 518, doi. 10.1038/ng.3249
- By:
- Publication type:
- Article
Remus: A Web Application for Prioritization of Regulatory Regions and Variants in Monogenic Diseases.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.638960
- By:
- Publication type:
- Article
The First Report of Biallelic Missense Mutations in the SFRP4 Gene Causing Pyle Disease in Two Siblings.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.593407
- By:
- Publication type:
- Article
Better safe than sorry—Whole-genome sequencing indicates that missense variants are significant in susceptibility to COVID-19.
- Published in:
- PLoS ONE, 2023, v. 17, n. 1, p. 1, doi. 10.1371/journal.pone.0279356
- By:
- Publication type:
- Article
Corrigendum: Occurrence and Characterization of mcr-1 -Positive Escherichia coli Isolated From Food-Producing Animals in Poland, 2011–2016.
- Published in:
- 2019
- By:
- Publication type:
- Correction Notice
Occurrence and Characterization of mcr-1 -Positive Escherichia coli Isolated From Food-Producing Animals in Poland, 2011–2016.
- Published in:
- Frontiers in Microbiology, 2019, p. 1, doi. 10.3389/fmicb.2019.01753
- By:
- Publication type:
- Article
Compound heterozygous GLI3 variants in siblings with thyroid hemiagenesis.
- Published in:
- Endocrine (1355008X), 2021, v. 71, n. 2, p. 514, doi. 10.1007/s12020-020-02422-1
- By:
- Publication type:
- Article
PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema.
- Published in:
- Cerebellum, 2017, v. 16, n. 1, p. 272, doi. 10.1007/s12311-016-0784-y
- By:
- Publication type:
- Article
Meta-analysis of whole-exome sequencing data from two independent cohorts finds no evidence for rare variant enrichment in Parkinson disease associated loci.
- Published in:
- PLoS ONE, 2020, v. 15, n. 10, p. 1, doi. 10.1371/journal.pone.0239824
- By:
- Publication type:
- Article
A cross‐sectional study of patients referred for HNF1B‐MODY genetic testing due to cystic kidneys and diabetes.
- Published in:
- Pediatric Diabetes, 2020, v. 21, n. 3, p. 422, doi. 10.1111/pedi.12959
- By:
- Publication type:
- Article
Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy.
- Published in:
- PLoS ONE, 2016, v. 11, n. 2, p. 1, doi. 10.1371/journal.pone.0149055
- By:
- Publication type:
- Article