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Diagnosis of Menke‐Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs.
- Published in:
- 2023
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- Publication type:
- Case Study
Knowledge, acceptability and personal attitude toward pre-implantation 1 genetic testing (PGT) and pre-natal diagnosis (PND) for females carrying BRCA pathogenic variant according to fertility preservation experience.
- Published in:
- Journal of Assisted Reproduction & Genetics, 2023, v. 40, n. 6, p. 1381, doi. 10.1007/s10815-023-02798-9
- By:
- Publication type:
- Article
Parental mosaicism is a pitfall in preimplantation genetic diagnosis of dominant disorders.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 5, p. 711, doi. 10.1038/ejhg.2013.164
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- Publication type:
- Article