Balanced chromosomal rearrangement in a partner revealed after Preimplantation Genetic Testing for Aneuploidies (PGT-A)

por Ceschin, Ianaê, Ali, Taccyanna M., Carvalho, Cristina V., Martins, Caique, Bos-Mikich, Adriana, Andrade, Gabriella M., Frantz, Nilo
Publicado 2023

Inherited unbalanced reciprocal translocation with 3q duplication and 5p deletion in a foetus revealed by cell-free foetal DNA (cffDNA) testing: a case report

por Ali, Taccyanna M., Mateu-Brull, Emilia, Balaguer, Nuria, Dantas, Camila, Borges, Haline Risso, de Oliveira, Mariana Quintans Guerra, Rodrigo, Lorena, Campos-Galindo, Inmaculada, Navarro, Roser, Milán, Miguel
Publicado 2021

Childhood Hypophosphatasia Associated with a Novel Biallelic ALPL Variant at the TNSALP Dimer Interface

por Martins, Luciane, Lessa, Luis Gustavo F., Ali, Taccyanna M., Lazar, Monize, Kim, Chong A., Kantovitz, Kamila R., Santamaria, Mauro P., Araújo, Cássia F., Ramos, Carolina J., Foster, Brian L., Franco, José Francisco S., Bertola, Débora, Nociti, Francisco H.
Publicado 2022