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Publications by Rafal Ploski
Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease
American Journal of Human Genetics
Genetics
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder
American Journal of Human Genetics
Genetics
CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder
American Journal of Human Genetics
Genetics
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder
American Journal of Human Genetics
Genetics
A Novel CDC42 Mutation in an 11-Year Old Child Manifesting as Syndromic Immunodeficiency, Autoinflammation, Hemophagocytic Lymphohistiocytosis, and Malignancy: A Case Report
Frontiers in Immunology
Allergy
Immunology
Differences in Gene-Gene Interactions in Graves’ Disease Patients Stratified by Age of Onset
PLoS ONE
Multidisciplinary
Titin Truncating Variants in Dilated Cardiomyopathy – Prevalence and Genotype-Phenotype Correlations
PLoS ONE
Multidisciplinary
Phenotypic Variability of Patients Homozygous for the GJB2 Mutation 35delG Cannot Be Explained by the Influence of One Major Modifier Gene
European Journal of Human Genetics
Genetics
