Agnieszka Pollak
0000-0002-2847-1782
6 papers found
Refreshing results…
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
Overinterpretation of high throughput sequencing data in medical genetics: first evidence against TMPRSS3/GJB2 digenic inheritance of hearing loss
Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss
Missing publications? Search for publications with a matching author name.