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20 results on '"Bjørgo, K"'

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1. Suicidal ideation in a European Huntington's disease population

2. The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients

3. Observing Huntington's disease: the European Huntington's Disease Network's REGISTRY

4. NMDA receptor gene variations as modifiers in Huntington disease: a replication study

5. Observing Huntington's Disease: the European Huntington's Disease Network's REGISTRY

6. Normal and mutant HTT interact to affect clinical severity and progression in Huntington disease

7. β-Defensin Genomic Copy Number Does Not Influence the Age of Onset in Huntington's Disease

8. Discrepancies in reporting the CAG repeat lengths for Huntington's disease

9. NMDA receptor gene variations as modifiers in Huntington disease

10. Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin‐binding dynamics

11. Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics.

12. Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics

13. A mild skeletal phenotype with overlapping features of Miller syndrome and functional characterisation of two new variants of human dihydroorotate dehydrogenase.

14. Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease.

15. A family with cytotoxic T-lymphocyte-associated protein 4 haploinsufficiency presenting with aplastic anaemia.

16. Severe persistent pulmonary hypertension of the newborn and dysmorphic features in neonate with a deletion involving TWIST1 and PHF14: a case report.

17. Biochemical and genetic characterization of an unusual mild PEX3-related Zellweger spectrum disorder.

18. Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome.

19. A de novo 6p interstitial deletion and a complex translocation involving chromosomes 2, 6, and 14 in a mildly developmentally delayed patient.

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