Search filters

Authors whose works are in public domain in at least one jurisdiction

List of works by Paweł Sztromwasser

A cross-sectional study of patients referred for HNF1B-MODY genetic testing due to cystic kidneys and diabetes

scientific article published on 11 December 2019

A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis

scientific article published on 16 March 2015

ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?

scientific article published on 23 April 2016

Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration

scientific article published on 23 December 2015

High myopia-excavated optic disc anomaly associated with a frameshift mutation in the MYC-binding protein 2 gene (MYCBP2).

scientific article published on 26 January 2015

Impact of processing method on donated human breast milk microRNA content

scientific article published on 15 July 2020

Meta-analysis of whole-exome sequencing data from two independent cohorts finds no evidence for rare variant enrichment in Parkinson disease associated loci

scientific article published on 01 October 2020

No evidence for rare TRAP1 mutations influencing the risk of idiopathic Parkinson's disease

scientific article published on 24 January 2018

Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy

scientific article

PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema.

scientific article published on 10 May 2016

Rare genetic variation in mitochondrial pathways influences the risk for Parkinson's disease.

scientific article published on 5 September 2018

RareVariantVis: new tool for visualization of causative variants in rare monogenic disorders using whole genome sequencing data

scientific article

The Thousand Polish Genomes—A Database of Polish Variant Allele Frequencies

scientific article published in 2022

Validation of HER2 Status in Whole Genome Sequencing Data of Breast Cancers with the Ploidy-Corrected Copy Number Approach

scientific article published on 21 December 2021

Paulina is supported by:

About Paulina

Help