List of works - Agnieszka Charzewska - Paulina

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List of works by Agnieszka Charzewska

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Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis.

scientific article published on 9 January 2018

Variants in CUL4B are associated with cerebral malformations

scientific article

Hypomyelinating leukodystrophies - a molecular insight into the white matter pathology.

scientific article published on 28 May 2016

Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features

scientific article

The power of the Mediator complex-Expanding the genetic architecture and phenotypic spectrum of MED12 -related disorders

scientific article published on 09 August 2018

PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics

scientific article published on 12 April 2019

Expanding the phenotype associated with missense mutations of the ARX gene

scientific article published on 08 May 2013

Novel Mutations in the IRF6 Gene on the Background of Known Polymorphisms in Polish Patients With Orofacial Clefting

scientific article published on 9 December 2014

Familial ataxia, tremor, and dementia in a polish family with a novel mutation in the CCDC88C gene

article

SCN3A-related neurodevelopmental disorder: A spectrum of epilepsy and brain malformation

scientific article published on 08 June 2020

Characterization of Glycosylphosphatidylinositol Biosynthesis Defects by Clinical Features, Flow Cytometry, and Automated Image Analysis