19 results on '"Donkervoort, Sandra"'
Search Results
2. Electrophysiological Characterization of aMYH7Variant With Tremor Phenotype
3. The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment
4. FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability
5. Biallelic loss of function variants inSYT2cause a treatable congenital onset presynaptic myasthenic syndrome
6. GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome
7. Dominant collagen XII mutations cause a distal myopathy
8. Dominant collagen XII mutations cause a distal myopathy
9. Novel SPEG mutations in congenital myopathies: Genotype–phenotype correlations
10. Congenital Titinopathy: Comprehensive characterization and pathogenic insights
11. Anti-3-hydroxy-3-methylglutaryl-coenzyme a reductase necrotizing myopathy masquerading as a muscular dystrophy in a child
12. Electrical impedance myography in individuals with collagen 6 and laminin α‐2 congenital muscular dystrophy: a cross‐sectional and 2‐year analysis
13. Comparison of sitting and supine forced vital capacity in collagen VI‐related dystrophy and laminin α2‐related dystrophy
14. Mutation-specific effects on thin filament length in thin filament myopathy
15. TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype
16. Psychological Impact of Predictive Genetic Testing in VCP Inclusion Body Myopathy, Paget Disease of Bone and Frontotemporal Dementia
17. Genotype–phenotype analysis of 4q deletion syndrome: Proposal of a critical region
18. Single and Combined Diagnostic Value of Clinical Features and Laboratory Tests in Acute Appendicitis
19. Electrophysiological Characterization of a MYH7 Variant with Tremor Phenotype.
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.