PuSH - Publication Server of Helmholtz Zentrum München

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1.
Reynhout, S.* et al.: De novo mutations affecting the catalytic Cα subunit of PP2A (PPP2CA) cause syndromic intellectual disability resembling other PP2A-related neurodevelopmental disorders. Am. J. Hum. Genet. 104, 139-156 (2019)
2.
Iuso, A. et al.: Mutations in PPCS, encoding phosphopantothenoylcysteine synthetase, cause autosomal-recessive dilated cardiomyopathy. Am. J. Hum. Genet. 102, 1018-1030 (2018)