AON-based degradation of c.151C>T mutant COCH transcripts associated with dominantly inherited hearing impairment DFNA9

por de Vrieze, Erik, Cañas Martín, Jorge, Peijnenborg, Jolien, Martens, Aniek, Oostrik, Jaap, van den Heuvel, Simone, Neveling, Kornelia, Pennings, Ronald, Kremer, Hannie, van Wijk, Erwin
Publicado 2021

Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications

por Schobers, Gaby, Schieving, Jolanda H., Yntema, Helger G., Pennings, Maartje, Pfundt, Rolph, Derks, Ronny, Hofste, Tom, de Wijs, Ilse, Wieskamp, Nienke, van den Heuvel, Simone, Galbany, Jordi Corominas, Gilissen, Christian, Nelen, Marcel, Brunner, Han G., Kleefstra, Tjitske, Kamsteeg, Erik-Jan, Willemsen, Michèl A. A. P., Vissers, Lisenka E. L. M.
Publicado 2022