Autism spectrum disorder and Li-Fraumeni syndrome: purely coincidental or mechanistically associated?

Por Kuhlen, Michaela, Taeubner, Julia, Wieczorek, Dagmar, Borkhardt, Arndt
Publicado no Mol Cell Pediatr (2017)

Genetic predisposition in children with cancer – affected families' acceptance of Trio-WES

Por Brozou, Triantafyllia, Taeubner, Julia, Velleuer, Eunike, Dugas, Martin, Wieczorek, Dagmar, Borkhardt, Arndt, Kuhlen, Michaela
Publicado no Eur J Pediatr (2017)

Congenital embryonal rhabdomyosarcoma caused by heterozygous concomitant PTCH1 and PTCH2 germline mutations

Por Taeubner, Julia, Brozou, Triantafyllia, Qin, Nan, Bartl, Jasmin, Ginzel, Sebastian, Schaper, Joerg, Felsberg, Joerg, Fulda, Simone, Vokuhl, Christian, Borkhardt, Arndt, Kuhlen, Michaela
Publicado no Eur J Hum Genet (2017)

Diagnostic challenges in a child with early onset desmoplastic medulloblastoma and homozygous variants in MSH2 and MSH6

Por Taeubner, Julia, Wimmer, Katharina, Muleris, Martine, Lascols, Olivier, Colas, Chrystelle, Fauth, Christine, Brozou, Triantafyllia, Felsberg, Joerg, Riemer, Jasmin, Gombert, Michael, Ginzel, Sebastian, Hoell, Jessica I., Borkhardt, Arndt, Kuhlen, Michaela
Publicado no Eur J Hum Genet (2018)