Found: 4
Select item for more details and to access through your institution.
Unlocking the potential of the UK 100,000 Genomes Project—lessons learned from analysis of the "Congenital Malformations caused by Ciliopathies" cohort.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 1, p. 5, doi. 10.1002/ajmg.c.31965
- By:
- Publication type:
- Article
Interpreting ciliopathy-associated missense variants of uncertain significance (VUS) in Caenorhabditis elegans.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 10, p. 1574, doi. 10.1093/hmg/ddab344
- By:
- Publication type:
- Article
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100 000 genomes project.
- Published in:
- 2022
- By:
- Publication type:
- Abstract
Promises, pitfalls and practicalities of prenatal whole exome sequencing.
- Published in:
- 2018
- By:
- Publication type:
- journal article