Denise Horn
Ärztin
Werke:
- Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability, short stature, microcephaly and Dent disease: a case report
- A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH
- Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively - coincidence within one family
- Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes