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Genetic Profile of Left Ventricular Noncompaction Cardiomyopathy in Children—A Single Reference Center Experience.
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- Genes, 2022, v. 13, n. 8, p. 1334, doi. 10.3390/genes13081334
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- Article
Clinical Presentation of Left Ventricular Noncompaction Cardiomyopathy and Bradycardia in Three Families Carrying HCN4 Pathogenic Variants.
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- Genes, 2022, v. 13, n. 3, p. 477, doi. 10.3390/genes13030477
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- Article
Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant.
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- Biomedical Papers of the Medical Faculty of Palacky University in Olomouc, 2016, v. 160, n. 1, p. 161, doi. 10.5507/bp.2016.006
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- Article
Coexistence of bilateral macular edema and pale optic disc in the patient with Cohen syndrome.
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- Open Medicine, 2021, v. 16, n. 1, p. 1, doi. 10.1515/med-2021-0208
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- Article
Pierwotna hiperoksaluria typu 1 jako wskazanie do jednoczasowego przeszczepienia wątroby i nerki.
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- Contemporary Pediatrics, Gastroenterology, Hepatology & Child Feeding / Pediatria Wspolczesna, Gastroenterologia, Heptologia i Zywienie Dziecka, 2012, v. 14, n. 3, p. 127
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- Article
Patologie w&acedil;troby w przebiegu autosomalnej recesywnej wielotorbielowatości nerek.
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- Contemporary Pediatrics, Gastroenterology, Hepatology & Child Feeding / Pediatria Wspolczesna, Gastroenterologia, Heptologia i Zywienie Dziecka, 2012, v. 14, n. 2, p. 96
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- Article
Abnormalities of the biliary tract in patients with autosomal recessive polycystic kidney disease (ARPKD).
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- Polish Journal of Pediatrics / Pediatria Polska, 2020, v. 95, n. 4, p. 207, doi. 10.5114/POLP.2020.103463
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- Article
Breakpoint Mapping of Symptomatic Balanced Translocations Links the EPHA6, KLF13 and UBR3 Genes to Novel Disease Phenotype.
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- Journal of Clinical Medicine, 2020, v. 9, n. 5, p. 1245, doi. 10.3390/jcm9051245
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- Article