The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dyspl...

Por Fonseca, Ana Carolina S, Bonaldi, Adriano, Bertola, Débora R, Kim, Chong A, Otto, Paulo A, Vianna-Morgante, Angela M
Publicado em 2013

The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation

Por Fonseca, Ana Carolina S., Bonaldi, Adriano, Fonseca, Simone A. S., Otto, Paulo A., Kok, Fernando, Bak, Mads, Tommerup, Niels, Vianna-Morgante, Angela M.
Publicado no Mol Cytogenet (2015)