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Comprehensive clinically oriented workflow for nucleotide level resolution and interpretation in prenatal diagnosis of de novo apparently balanced chromosomal translocations in their genomic landscape
We present a comprehensive clinically oriented workflow for large-insert genome sequencing (liGS)-based nucleotide level resolution and interpretation of de novo (dn) apparently balanced chromosomalExpand
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Molecular pathogenesis of a malformation syndrome associated with a pericentric chromosome 2 inversion
Tese de mestrado em Biologia Humana e do Ambiente, apresentada a Universidade de Lisboa, atraves da Faculdade de Ciencias, 2017