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List of works by Monika Kugaudo

Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome

scientific article published on 12 May 2021

Four novel RSK2 mutations in females with Coffin-Lowry syndrome.

scientific article published on 15 July 2010

Is diagnosing cardio-facio-cutaneous (CFC) syndrome still a challenge? Delineation of the phenotype in 15 Polish patients with proven mutations, including novel mutations in the BRAF1 gene.

scientific article published on 11 November 2014

Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant

scientific article published on 29 February 2016

Novel pathogenic variant in the HRAS gene with lethal outcome and a broad phenotypic spectrum among Polish patients with Costello syndrome

scientific article published on 23 December 2016

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