Hereditary hearing loss SNP-microarray pilot study

Por Vona, Barbara, Hofrichter, Michaela A. H., Schröder, Jörg, Shehata-Dieler, Wafaa, Nanda, Indrajit, Haaf, Thomas
Publicado no BMC Res Notes (2018)

A Novel de novo Mutation in CEACAM16 Associated with Postlingual Hearing Impairment

Por Hofrichter, Michaela A.H., Nanda, Indrajit, Gräf, Jens, Schröder, Jörg, Shehata-Dieler, Wafaa, Vona, Barbara, Haaf, Thomas
Publicado no Mol Syndromol (2015)

The conserved p.Arg108 residue in S1PR2 (DFNB68) is fundamental for proper hearing: evidence from a consanguineous Iranian family

Por Hofrichter, Michaela A. H., Mojarad, Majid, Doll, Julia, Grimm, Clemens, Eslahi, Atiye, Hosseini, Neda Sadat, Rajati, Mohsen, Müller, Tobias, Dittrich, Marcus, Maroofian, Reza, Haaf, Thomas, Vona, Barbara
Publicado no BMC Med Genet (2018)

Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations

Por Vona, Barbara, Müller, Tobias, Nanda, Indrajit, Neuner, Cordula, Hofrichter, Michaela A. H., Schröder, Jörg, Bartsch, Oliver, Läßig, Anne, Keilmann, Annerose, Schraven, Sebastian, Kraus, Fabian, Shehata-Dieler, Wafaa, Haaf, Thomas
Publicado no Genet Med (2014)