Deletion of protein tyrosine phosphatase, non-receptor type 4 (PTPN4) in twins with a Rett syndrome-like phenotype

por Williamson, Sarah L, Ellaway, Carolyn J, Peters, Greg B, Pelka, Gregory J, Tam, Patrick PL, Christodoulou, John
Publicado 2015

ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data

por Minoche, Andre E., Lundie, Ben, Peters, Greg B., Ohnesorg, Thomas, Pinese, Mark, Thomas, David M., Zankl, Andreas, Roscioli, Tony, Schonrock, Nicole, Kummerfeld, Sarah, Burnett, Leslie, Dinger, Marcel E., Cowley, Mark J.
Publicado 2021