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1 Ergebnisse
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The value of whole exome sequencing for genetic diagnosis i..:
Cottrell, E.
;
Ladha, T.
;
Borysewicz-Sańczyk, H.
...
Journal of Endocrinological Investigation. 44 (2020) 6 - p. 1331-1334 , 2020
Link:
https://doi.org/10.1007/s40618-020-01433-z
RT Journal T1 <Title>The value of whole exome sequencing for genetic diagnosis in a patient with Bloom syndrome</Title> UL https://suche.suub.uni-bremen.de/peid=cr-10.1007_s40618-020-01433-z&Exemplar=1&LAN=DE A1 Cottrell, E. A1 Ladha, T. A1 Borysewicz-Sańczyk, H. A1 Sawicka, B. A1 Savage, M. O. A1 Bossowski, A. T. A1 Storr, H. L. PB Springer Science and Business Media LLC YR 2020 SN 1720-8386 JF Journal of Endocrinological Investigation VO 44 IS 6 SP 1331 OP 1334 LK http://dx.doi.org/https://doi.org/10.1007/s40618-020-01433-z DO https://doi.org/10.1007/s40618-020-01433-z SF ELIB - SuUB Bremen
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