Found: 4
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Profiling complex repeat expansions in RFC1 in Parkinson's disease.
- Published in:
- NPJ Parkinson's Disease, 2024, v. 10, n. 1, p. 1, doi. 10.1038/s41531-024-00723-0
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- Publication type:
- Article
Diagnosis of Menke‐Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).
- Published in:
- Prenatal Diagnosis, 2023, v. 43, n. 6, p. 734, doi. 10.1002/pd.6340
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- Publication type:
- Article
Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder.
- Published in:
- Clinical Genetics, 2022, v. 101, n. 3, p. 364, doi. 10.1111/cge.14099
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- Publication type:
- Article