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1 Ergebnisse
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Improvement of diagnostic yield in carbamoylphosphate synth..:
Isler, Jasmine
;
Rüfenacht, Véronique
;
Gemperle, Corinne
..
JIMD Reports. 52 (2020) 1 - p. 28-34 , 2020
Link:
https://doi.org/10.1002/jmd2.12091
RT Journal T1
Improvement of diagnostic yield in carbamoylphosphate synthetase 1 (CPS1) molecular genetic investigation by RNA sequencing
UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_jmd2.12091&Exemplar=1&LAN=DE A1 Isler, Jasmine A1 Rüfenacht, Véronique A1 Gemperle, Corinne A1 Allegri, Gabriella A1 Häberle, Johannes PB Wiley YR 2020 SN 2192-8312 SN 2192-8312 JF JIMD Reports VO 52 IS 1 SP 28 OP 34 LK http://dx.doi.org/https://doi.org/10.1002/jmd2.12091 DO https://doi.org/10.1002/jmd2.12091 SF ELIB - SuUB Bremen
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