Found: 9
Select item for more details and to access through your institution.
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
- Published in:
- Genome Biology, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s13059-020-02053-9
- By:
- Publication type:
- Article
Confirming the recessive inheritance of PERP‐related erythrokeratoderma.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 4, p. 661, doi. 10.1111/cge.13699
- By:
- Publication type:
- Article
Biallelic variants in CTU2 cause DREAM‐PL syndrome and impair thiolation of tRNA wobble U34.
- Published in:
- Human Mutation, 2019, v. 40, n. 11, p. 2108, doi. 10.1002/humu.23870
- By:
- Publication type:
- Article
NUP214 deficiency causes severe encephalopathy and microcephaly in humans.
- Published in:
- Human Genetics, 2019, v. 138, n. 3, p. 221, doi. 10.1007/s00439-019-01979-w
- By:
- Publication type:
- Article
PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly.
- Published in:
- Human Genetics, 2019, v. 138, n. 3, p. 231, doi. 10.1007/s00439-019-01980-3
- By:
- Publication type:
- Article
The many faces of peroxisomal disorders: Lessons from a large Arab cohort.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 2, p. 310, doi. 10.1111/cge.13481
- By:
- Publication type:
- Article
A novel mechanism for variable phenotypic expressivity in Mendelian diseases uncovered by an AU-rich element (ARE)- creating mutation.
- Published in:
- Genome Biology, 2017, v. 18, p. 1, doi. 10.1186/s13059-017-1274-3
- By:
- Publication type:
- Article
The genetic landscape of familial congenital hydrocephalus.
- Published in:
- 2017
- By:
- Publication type:
- journal article
A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition.
- Published in:
- Human Genetics, 2016, v. 135, n. 7, p. 707, doi. 10.1007/s00439-016-1665-7
- By:
- Publication type:
- Article