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Your search keyword '"Donkervoort, Sandra"' showing total 22 results

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22 results on '"Donkervoort, Sandra"'

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1. Cross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With SMCHD1 Variants

2. Association of Initial Maximal Motor Ability with Long-term Functional Outcome in Patients with COL6-related Dystrophies

3. The clinical, histological, and genotypic spectrum of SEPN1-related myopathy: A case series

4. Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies

5. Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies

6. Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G

8. Anti-HMGCR myopathy may resemble limb-girdle muscular dystrophy

9. Electrical impedance myography in individuals with collagen 6 and laminin α‐2 congenital muscular dystrophy: a cross‐sectional and 2‐year analysis

13. Mutation-Specific Effects on Thin Filament Length in Thin Filament Myopathy

14. Mosaicism for Dominant Collagen 6 Mutations as a Cause for Intrafamilial Phenotypic Variability

16. A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome

18. Genotype–phenotype analysis of 4q deletion syndrome: Proposal of a critical region

20. Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

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