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Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Patients' choices and opinions on chorionic villous sampling and non‐invasive alternatives for prenatal testing following preimplantation genetic testing for hereditary disorders: A cross‐sectional questionnaire study.
- Published in:
- Prenatal Diagnosis, 2022, v. 42, n. 2, p. 212, doi. 10.1002/pd.6088
- By:
- Publication type:
- Article
A systematic review on concurrent aneuploidy screening and preimplantation genetic testing for hereditary disorders: What is the prevalence of aneuploidy and is there a clinical effect from aneuploidy screening?
- Published in:
- 2020
- By:
- Publication type:
- journal article
Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 4, p. 523, doi. 10.1093/hmg/ddab257
- By:
- Publication type:
- Article