Multiple occurrence of psychomotor retardation and recurrent miscarriages in a family with a submicroscopic reciprocal translocation t(7;17)(p22;p13.2)

Por Pasińska, Magdalena, Łazarczyk, Ewelina, Jułga, Katarzyna, Bartnik-Głaska, Magdalena, Nowakowska, Beata, Haus, Olga
Publicado no BMC Med Genomics (2018)

Diagnostic implications of genetic copy number variation in epilepsy plus

Por Coppola, Antonietta, Cellini, Elena, Stamberger, Hannah, Saarentaus, Elmo, Cetica, Valentina, Lal, Dennis, Djémié, Tania, Bartnik‐Glaska, Magdalena, Ceulemans, Berten, Helen Cross, J., Deconinck, Tine, Masi, Salvatore De, Dorn, Thomas, Guerrini, Renzo, Hoffman‐Zacharska, Dorotha, Kooy, Frank, Lagae, Lieven, Lench, Nicholas, Lemke, Johannes R., Lucenteforte, Ersilia, Madia, Francesca, Mefford, Heather C., Morrogh, Deborah, Nuernberg, Peter, Palotie, Aarno, Schoonjans, An‐Sofie, Striano, Pasquale, Szczepanik, Elzbieta, Tostevin, Anna, Vermeesch, Joris R., Van Esch, Hilde, Van Paesschen, Wim, Waters, Jonathan J, Weckhuysen, Sarah, Zara, Federico, Jonghe, Peter De, Sisodiya, Sanjay M., Marini, Carla
Publicado no Epilepsia (2019)