TY  - JOUR
U1  - Zeitschriftenartikel, wissenschaftlich - begutachtet (reviewed)
A1  - Hoell, J. I.
A1  - Gombert, M.
A1  - Ginzel, S.
A1  - Loth, S.
A1  - Landgraf, P.
A1  - Käfer, V.
A1  - Streiter, M.
A1  - Prokop, A.
A1  - Weiss, M.
A1  - Thiele, R.
A1  - Borkhardt, A.
T1  - Constitutional Mismatch Repair-deficiency and Whole-exome Sequencing as the Means of the Rapid Detection of the Causative MSH6 Defect
JF  - Klinische Pädiatrie
KW  - childhood cancer syndrome
KW  - constitutional mismatch repair syndrome
KW  - whole-exome sequencing
KW  - genetic testing
KW  - erbliche Krebssyndrome
KW  - Gesamt-Exom-Sequenzierung
KW  - genetische Testung
SN  - 0300-8630
SS  - 0300-8630
U6  - https://doi.org/10.1055/s-0034-1389905
DO  - https://doi.org/10.1055/s-0034-1389905
PM  - 25431869
N1  - This work was supported by the Elterninitiative Kinderkrebsklinik e.V. Dusseldorf.
VL  - 226
IS  - 06/07
SP  - 357
EP  - 361
PB  - Georg Thieme Verlag
CY  - Stuttgart, New York
ER  -