Dominika Szczesniak
Warsaw, MZ 02954, Poland
Last Updated: 09/26/2026
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Found 10 publications
LZTR1: c.1260+1del Variant as a Significant Predictor of Early-Age Breast Cancer Development: Case Report Combined with In Silico Analysis.
Journal: International journal of molecular sciences
Published: June 13, 2025
Autosomal dominant myopathy caused by a novel ISCU variant.
Journal: Frontiers in genetics
Published: April 03, 2025
Lipoprotein lipase deficiency: heterozygotes match homozygotes in severity.
Journal: Archives of medical science : AMS
Published: August 31, 2024
Whole exome sequencing-based testing of adult epilepsy in a Polish population.
Journal: Neurologia i neurochirurgia polska
Published: August 11, 2024
Next generation sequencing panel as an effective approach to genetic testing in patients with a highly variable phenotype of neuromuscular disorders.
Journal: Neurogenetics
Published: March 19, 2024
Deterioration of visual quality and acuity as the first sign of ceroid lipofuscinosis type 3 (CLN3), a rare neurometabolic disease.
Journal: Metabolic brain disease
Published: October 21, 2022
The role of ultrasound and genetic counsel in prenatal diagnosis of split hand/foot malformation with long bone deficiency.
Journal: Taiwanese journal of obstetrics & gynecology
Published: January 03, 2019
Genetic polymorphisms and serum concentrations of adiponectin and resistin in anorexia nervosa and healthy controls - pilot study.
Journal: Neuro endocrinology letters
Published: April 18, 2017
Showing 1-10 of 10
Last Updated: 09/26/2026