publicações selecionadas
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artigo académico
- A Novel Frameshift CHD4 Variant Leading to Sifrim-Hitz-Weiss Syndrome in a Proband with a Subclinical Familial t(17;19) and a Large Dup(2)(q14.3q21.1). Biomedicine. 2022
- Congenital diaphragmatic hernia in a patient with tetrasomy 9p. Journal of Pediatric Surgery. 2005