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Henzi, Bettina C; Lava, Sebastiano A G; Spagnuolo, Carlos; Putananickal, Niveditha; Donner, Birgit C; Pfluger, Marc; Burkhardt, Barbara; Fischer, Dirk (2024). Tamoxifen may contribute to preserve cardiac function in Duchenne muscular dystrophy. European journal of pediatrics, 183(9), pp. 4057-4062. 10.1007/s00431-024-05670-9
Jackson, Christopher; Huemer, Martina; Bolognini, Ramona; Martin, Franck; Szinnai, Gabor; Donner, Birgit C; Richter, Uwe; Battersby, Brendan J; Nuoffer, Jean-Marc; Suomalainen, Anu; Schaller, André (2019). A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement. Human molecular genetics, 28(4), pp. 639-649. Oxford University Press 10.1093/hmg/ddy374