Agnieszka Pollak
0000-0002-2847-1782
4 papers found
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Postzygotic mosaicism of a novel PTPN11 mutation in monozygotic twins discordant for metachondromatosis
A recurrent de novo variant supports KCNC2 involvement in the pathogenesis of developmental and epileptic encephalopathy
De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy
AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant
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