Mosaic embryo transfer—first report of a live born with nonmosaic partial aneuploidy and uniparental disomy 15

por Schlade-Bartusiak, Kamilla, Strong, Emma, Zhu, Olive, Mackie, Jessica, Salema, Diane, Volodarsky, Michael, Roberts, Jeffrey, Steinraths, Michelle
Publicado 2022

Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis

por Harlalka, Gaurav V., Lehman, Anna, Chioza, Barry, Baple, Emma L., Maroofian, Reza, Cross, Harold, Sreekantan-Nair, Ajith, Priestman, David A., Al-Turki, Saeed, McEntagart, Meriel E., Proukakis, Christos, Royle, Louise, Kozak, Radoslaw P., Bastaki, Laila, Patton, Michael, Wagner, Karin, Coblentz, Roselyn, Price, Joy, Mezei, Michelle, Schlade-Bartusiak, Kamilla, Platt, Frances M., Hurles, Matthew E., Crosby, Andrew H.
Publicado 2013