Found: 3
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First replication that biallelic variants in FITM2 cause a complex deafness-dystonia syndrome.
- Published in:
- 2018
- By:
- Publication type:
- case study
De novo variants in neurodevelopmental disorders—experiences from a tertiary care center.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 1, p. 14, doi. 10.1111/cge.13946
- By:
- Publication type:
- Article
Lessons from exome sequencing in prenatally diagnosed heart defects: A basis for prenatal testing.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 5, p. 582, doi. 10.1111/cge.13536
- By:
- Publication type:
- Article