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3. De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus

11. 5162Novel insights into desminopathy in the era of next generation sequencing

12. Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency

14. Oral D-galactose supplementation in PGM1-CDG

16. TMEM70 deficiency: long-term outcome of 48 patients

18. Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model

19. Changes in Transcription Pattern Lead to a Marked Decrease in COX, CS and SQR Activity After the Developmental Point of the 22nd Gestational Week.

20. Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency

21. B33 Non-neural Mitochondrial Impairment In Huntington's Disease Patients And Minipigs Transgenic For The N-terminal Part Of Human Mutated Huntingtin

22. Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I

24. A new case of ALG8 deficiency (CDG Ih)

30. Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation

35. Biogenesis of Eukaryotic Cytochrome c Oxidase.

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