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Publications by Rafał Płoski

Mild Phenotype of Glutaric Aciduria Type 1 in Polish Patients – Novel Data From a Group of 13 Cases

Metabolic Brain Disease
BiochemistryMolecular NeuroscienceNeurologyCellular
2018English

AP4B1-associated Hereditary Spastic Paraplegia: Expansion of Phenotypic Spectrum Related to Homozygous p.Thr387fs Variant

Journal of Applied Genetics
MedicineGenetics
2020English

Coincidence of Andersen-Tawil Syndrome and Marfan Syndrome: A Case Report

Annals of Noninvasive Electrocardiology
MedicineCardiovascular MedicinePhysiologyCardiology
2019English

Lamin a/C Mutations in Dilated Cardiomyopathy

Cardiology Journal
MedicineCardiovascular MedicineCardiology
2014English

Bilateral Striatal Necrosis Caused by ADAR Mutations in Two Siblings With Dystonia and Freckles-Like Skin Changes That Should Be Differentiated From Leigh Syndrome

Folia Neuropathologica
Forensic MedicinePathologyNeurology
2016English

No Evidence for Association of SCO2 Heterozygosity With High-Grade Myopia or Other Diseases With Possible Mitochondrial Dysfunction

JIMD Reports
Internal MedicineGeneticsMolecular BiologyBiochemistryEndocrinologyMetabolismDiabetes
2015English

NullHap - A Versatile Application to Estimate Haplotype Frequencies From Unphased Genotypes in the Presence of Null Alleles

BMC Bioinformatics
BiochemistryApplied MathematicsComputer Science ApplicationsStructural BiologyMolecular Biology
2008English

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