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14 results on '"Burnyte B"'

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1. Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.

2. Identification of 27 Novel Variants in Genes COL4A3, COL4A4, and COL4A5 in Lithuanian Families With Alport Syndrome.

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3. Genetic landscape of paediatric acute liver failure

4. Genetic landscape of paediatric acute liver failure.

6. Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis.

7. Unraveling the Pathogenetic Mechanisms Underlying the Association between Specific Mitochondrial DNA Haplogroups and Parkinson's Disease.

8. Genotype-phenotype spectrum and prognosis of early-onset Marfan syndrome.

9. Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.

10. Cerebellar Ataxia and Peripheral Neuropathy in a Family With PNPLA8 -Associated Disease.

11. HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling.

12. CAPN3 c.1746-20C>G variant is hypomorphic for LGMD R1 calpain 3-related.

13. Identification of 27 Novel Variants in Genes COL4A3, COL4A4 , and COL4A5 in Lithuanian Families With Alport Syndrome.

14. Urine Biomarkers Combined With Ultrasound for the Diagnosis of Obstruction in Pediatric Hydronephrosis.